From 730f0afca36e331d0dbaf7c0eaeeaff541e6ca58 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Mon, 1 Jul 2024 13:52:56 +0300 Subject: [PATCH] Remove mesh xrefs from HPO The Mesh-HPO mappings are now outsourced to MedGen, see https://github.com/obophenotype/human-phenotype-ontology/issues/9750. They can be found here: https://obophenotype.github.io/human-phenotype-ontology/developers/mappings/ --- src/ontology/hp-edit.owl | 2157 -------------------------------------- 1 file changed, 2157 deletions(-) diff --git a/src/ontology/hp-edit.owl b/src/ontology/hp-edit.owl index f89f014fe..c9715d1e9 100644 --- a/src/ontology/hp-edit.owl +++ b/src/ontology/hp-edit.owl @@ -19468,7 +19468,6 @@ SubClassOf( ) "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.") AnnotationAssertion( "HP:0004715") -AnnotationAssertion( "MSH:D021782") AnnotationAssertion( "SNOMEDCT_US:204962002") AnnotationAssertion( "SNOMEDCT_US:82525005") AnnotationAssertion( "UMLS:C3714581") @@ -19576,7 +19575,6 @@ SubClassOf( (Neurogenic bladder) AnnotationAssertion(Annotation( ) Annotation( "PMID:18095004") Annotation( "PMID:22400020") "A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.") -AnnotationAssertion( "MSH:D001750") AnnotationAssertion( "SNOMEDCT_US:397732007") AnnotationAssertion( "SNOMEDCT_US:398064005") AnnotationAssertion( "UMLS:C0005697") @@ -19630,7 +19628,6 @@ SubClassOf( (Bladder diverticulum) AnnotationAssertion(Annotation( ) "Diverticulum (sac or pouch) in the wall of the urinary bladder.") -AnnotationAssertion( "MSH:C562406") AnnotationAssertion( "SNOMEDCT_US:197866008") AnnotationAssertion( "UMLS:C0156273") AnnotationAssertion(Annotation( ) "Bladder diverticula") @@ -19642,7 +19639,6 @@ SubClassOf( (Urinary retention) AnnotationAssertion(Annotation( ) "Inability to completely empty the urinary bladder during the process of urination.") -AnnotationAssertion( "MSH:D016055") AnnotationAssertion( "SNOMEDCT_US:130951007") AnnotationAssertion( "SNOMEDCT_US:267064002") AnnotationAssertion( "SNOMEDCT_US:449491000124101") @@ -19656,7 +19652,6 @@ SubClassOf( (Nocturia) AnnotationAssertion(Annotation( ) "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.") -AnnotationAssertion( "MSH:D053158") AnnotationAssertion( "SNOMEDCT_US:139394000") AnnotationAssertion( "UMLS:C0028734") AnnotationAssertion(Annotation( ) "Nycturia") @@ -19680,7 +19675,6 @@ SubClassOf( ) Annotation( "PMID:12559262") "Loss of the ability to control the urinary bladder leading to involuntary urination.") AnnotationAssertion( "HP:0006942") AnnotationAssertion( "HP:0008681") -AnnotationAssertion( "MSH:D014549") AnnotationAssertion( "SNOMEDCT_US:165232002") AnnotationAssertion( "UMLS:C0042024") AnnotationAssertion( "Bladder incontinence") @@ -19695,7 +19689,6 @@ SubClassOf( ) "Dilatation of the bladder postnatally.") AnnotationAssertion( "HP:0002838") -AnnotationAssertion( "MSH:C536139") AnnotationAssertion( "UMLS:C1855311") AnnotationAssertion( "HP:0000021") AnnotationAssertion(rdfs:label "Megacystis") @@ -19717,7 +19710,6 @@ SubClassOf( ) "Protrusion of the contents of the abdominal cavity through the inguinal canal.") AnnotationAssertion(Annotation(rdfs:label "Inguinal hernia") "MEDDRA:10022016") -AnnotationAssertion( "MSH:D006552") AnnotationAssertion( "SNOMEDCT_US:396232000") AnnotationAssertion( "UMLS:C0019294") AnnotationAssertion( "HP:0000023") @@ -19730,7 +19722,6 @@ SubClassOf( (Prostatitis) AnnotationAssertion(Annotation( ) "The presence of inflammation of the prostate.") -AnnotationAssertion( "MSH:D011472") AnnotationAssertion( "SNOMEDCT_US:9713002") AnnotationAssertion( "UMLS:C0033581") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the prostate") @@ -19752,7 +19743,6 @@ SubClassOf( ) "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.") AnnotationAssertion( "HP:0008649") -AnnotationAssertion( "MSH:D005058") AnnotationAssertion( "SNOMEDCT_US:48723006") AnnotationAssertion( "UMLS:C0151721") AnnotationAssertion(Annotation( ) Annotation( ) "Decreased function of male gonad") @@ -19765,7 +19755,6 @@ SubClassOf( (Azoospermia) AnnotationAssertion(Annotation( ) Annotation( "PMID:20514278") "Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.") -AnnotationAssertion( "MSH:D053713") AnnotationAssertion( "SNOMEDCT_US:425558002") AnnotationAssertion( "SNOMEDCT_US:48188009") AnnotationAssertion( "UMLS:C0004509") @@ -19780,7 +19769,6 @@ SubClassOf( ) Annotation( "PMID:23650202") "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.") AnnotationAssertion( "HP:0000797") AnnotationAssertion( "Fyler:4493") -AnnotationAssertion( "MSH:D003456") AnnotationAssertion( "SNOMEDCT_US:204878001") AnnotationAssertion( "UMLS:C0010417") AnnotationAssertion(Annotation( ) "Cryptorchism") @@ -19817,7 +19805,6 @@ SubClassOf( (Epididymitis) AnnotationAssertion(Annotation( ) "The presence of inflammation of the epididymis.") -AnnotationAssertion( "MSH:D004823") AnnotationAssertion( "SNOMEDCT_US:31070006") AnnotationAssertion( "UMLS:C0014534") AnnotationAssertion( "HP:0000031") @@ -19852,7 +19839,6 @@ SubClassOf( "PMID:32644551") "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.") AnnotationAssertion( "Hydrocele") -AnnotationAssertion( "MSH:D006848") AnnotationAssertion( "SNOMEDCT_US:26614003") AnnotationAssertion( "SNOMEDCT_US:386152007") AnnotationAssertion( "SNOMEDCT_US:55434001") @@ -19888,7 +19874,6 @@ SubClassOf( (Male pseudohermaphroditism) AnnotationAssertion(Annotation( ) "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.") -AnnotationAssertion( "MSH:D058490") AnnotationAssertion( "SNOMEDCT_US:111332007") AnnotationAssertion( "UMLS:C0238395") AnnotationAssertion( "HP:0000037") @@ -19945,7 +19930,6 @@ SubClassOf( ) Annotation( "PMID:23503957") "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).") AnnotationAssertion( "HP:0003335") AnnotationAssertion( "HP:0008224") -AnnotationAssertion( "MSH:D007006") AnnotationAssertion( "SNOMEDCT_US:33927004") AnnotationAssertion( "UMLS:C0271623") AnnotationAssertion( "UMLS:C3489396") @@ -20162,7 +20146,6 @@ SubClassOf( ) Annotation( "PMID:15102623") "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.") AnnotationAssertion( "HP:0008685") AnnotationAssertion( "HP:0008693") -AnnotationAssertion( "MSH:D012734") AnnotationAssertion( "SNOMEDCT_US:21321009") AnnotationAssertion( "UMLS:C0266362") AnnotationAssertion(Annotation( ) "Ambiguous external genitalia") @@ -20253,7 +20236,6 @@ SubClassOf( (Ureterocele) AnnotationAssertion(Annotation( "eMedicine:453993") "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.") -AnnotationAssertion( "MSH:D014518") AnnotationAssertion( "SNOMEDCT_US:12818004") AnnotationAssertion( "UMLS:C0041960") AnnotationAssertion( "HP:0000070") @@ -20304,7 +20286,6 @@ SubClassOf( (Ureteropelvic junction obstruction) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:Eurenomics_ewuehl") "Blockage of urine flow from the renal pelvis to the proximal ureter.") -AnnotationAssertion( "MSH:C537373") AnnotationAssertion( "SNOMEDCT_US:95575002") AnnotationAssertion( "UMLS:C0521619") AnnotationAssertion( "Pelviureteric junction obstruction") @@ -20334,7 +20315,6 @@ AnnotationAssertion( "HP:0006002") AnnotationAssertion( "HP:0008667") AnnotationAssertion( "Fyler:4510") -AnnotationAssertion( "MSH:D014718") AnnotationAssertion( "SNOMEDCT_US:197811007") AnnotationAssertion( "UMLS:C0042580") AnnotationAssertion( "Ureteral reflux") @@ -20349,7 +20329,6 @@ SubClassOf( (Abnormality of the kidney) AnnotationAssertion(Annotation( ) "An abnormality of the kidney.") -AnnotationAssertion( "MSH:D007674") AnnotationAssertion( "SNOMEDCT_US:44513007") AnnotationAssertion( "SNOMEDCT_US:90708001") AnnotationAssertion( "UMLS:C0022658") @@ -20424,7 +20403,6 @@ SubClassOf( ) "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.") AnnotationAssertion( "HP:0000084") AnnotationAssertion( "HP:0004723") -AnnotationAssertion( "MSH:D051437") AnnotationAssertion( "SNOMEDCT_US:236423003") AnnotationAssertion( "SNOMEDCT_US:42399005") AnnotationAssertion( "UMLS:C0035078") @@ -20442,7 +20420,6 @@ SubClassOf( ) "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.") AnnotationAssertion( "Fused kidneys") AnnotationAssertion( "Fyler:4507") -AnnotationAssertion( "MSH:D000069337") AnnotationAssertion( "SNOMEDCT_US:41729002") AnnotationAssertion( "UMLS:C0221353") AnnotationAssertion(Annotation( ) "Horseshoe kidney") @@ -20524,7 +20501,6 @@ SubClassOf( (Proteinuria) AnnotationAssertion(Annotation( ) "Increased levels of protein in the urine.") -AnnotationAssertion( "MSH:D011507") AnnotationAssertion( "SNOMEDCT_US:29738008") AnnotationAssertion( "UMLS:C0033687") AnnotationAssertion(Annotation( ) Annotation( ) "High urine protein levels") @@ -20565,7 +20541,6 @@ SubClassOf( "HPO_CONTRIBUTOR:Eurenomics_fschaefer") Annotation( "PMID:16164633") "Segmental accumulation of scar tissue in individual (but not all) glomeruli.") AnnotationAssertion( "HP:0004747") -AnnotationAssertion( "MSH:D005923") AnnotationAssertion( "SNOMEDCT_US:236403004") AnnotationAssertion( "SNOMEDCT_US:25821008") AnnotationAssertion( "UMLS:C0017668") @@ -20599,7 +20574,6 @@ SubClassOf( (Glomerulonephritis) AnnotationAssertion(Annotation( ) "Inflammation of the renal glomeruli.") -AnnotationAssertion( "MSH:D005921") AnnotationAssertion( "SNOMEDCT_US:36171008") AnnotationAssertion( "UMLS:C0017658") AnnotationAssertion( "Glomerular nephritis") @@ -20616,7 +20590,6 @@ AnnotationAssertion( "HP:0004718") AnnotationAssertion( "HP:0008638") AnnotationAssertion( "HP:0008727") -AnnotationAssertion( "MSH:D009404") AnnotationAssertion( "SNOMEDCT_US:52254009") AnnotationAssertion( "UMLS:C0027726") AnnotationAssertion( "Nephrosis") @@ -20629,7 +20602,6 @@ SubClassOf( ) "An increased rate of urine production.") AnnotationAssertion( "HP:0200060") -AnnotationAssertion( "MSH:D011141") AnnotationAssertion( "SNOMEDCT_US:28442001") AnnotationAssertion( "SNOMEDCT_US:56574000") AnnotationAssertion( "SNOMEDCT_US:718402002") @@ -20680,7 +20652,6 @@ SubClassOf( "HPO_CONTRIBUTOR:Eurenomics_fschaefer") "A fluid filled sac in the kidney.") AnnotationAssertion( "HP:0000088") AnnotationAssertion( "HP:0000109") -AnnotationAssertion( "MSH:D052177") AnnotationAssertion( "UMLS:C0022679") AnnotationAssertion( "UMLS:C3887499") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Kidney cyst") @@ -20709,7 +20680,6 @@ SubClassOf( ) "The presence of developmental dysplasia of the kidney.") AnnotationAssertion( "HP:0000116") AnnotationAssertion( "HP:0004721") -AnnotationAssertion( "MSH:C563261") AnnotationAssertion( "SNOMEDCT_US:204949001") AnnotationAssertion( "UMLS:C1619700") AnnotationAssertion( "UMLS:C3536714") @@ -20733,7 +20703,6 @@ SubClassOf( ) "A nonspecific term referring to disease or damage of the kidneys.") AnnotationAssertion(Annotation( ) Annotation( ) "Kidney damage") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Kidney disease") -AnnotationAssertion( "MSH:D007674") AnnotationAssertion( "SNOMEDCT_US:90708001") AnnotationAssertion( "UMLS:C0022658") AnnotationAssertion( "UMLS:C1408258") @@ -20751,7 +20720,6 @@ AnnotationAssertion( "HP:0008673") AnnotationAssertion( "HP:0008699") AnnotationAssertion( "Fyler:4508") -AnnotationAssertion( "MSH:D007690") AnnotationAssertion( "SNOMEDCT_US:82525005") AnnotationAssertion( "UMLS:C0022680") AnnotationAssertion( "UMLS:C1567435") @@ -20806,7 +20774,6 @@ AnnotationAssertion( "HP:0008688") AnnotationAssertion( "HP:0008704") AnnotationAssertion( "HP:0008713") -AnnotationAssertion( "MSH:D014564") AnnotationAssertion( "SNOMEDCT_US:287085006") AnnotationAssertion( "SNOMEDCT_US:42030000") AnnotationAssertion( "UMLS:C0042063") @@ -20828,7 +20795,6 @@ SubClassOf( (Nephrocalcinosis) AnnotationAssertion(Annotation( ) "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.") -AnnotationAssertion( "MSH:D009397") AnnotationAssertion( "SNOMEDCT_US:48638002") AnnotationAssertion( "UMLS:C0027709") AnnotationAssertion( "UMLS:C4280679") @@ -20859,7 +20825,6 @@ SubClassOf( ) "The presence of inflammation affecting the kidney.") AnnotationAssertion( "HP:0008634") -AnnotationAssertion( "MSH:D009393") AnnotationAssertion( "SNOMEDCT_US:52845002") AnnotationAssertion( "UMLS:C0027697") AnnotationAssertion(Annotation( ) Annotation( ) "Kidney inflammation") @@ -20896,7 +20861,6 @@ SubClassOf( ) "Severe distention of the kidney with dilation of the renal pelvis and calices.") AnnotationAssertion( "Fyler:4502") -AnnotationAssertion( "MSH:D006869") AnnotationAssertion( "SNOMEDCT_US:43064006") AnnotationAssertion( "UMLS:C0020295") AnnotationAssertion( "HP:0000126") @@ -20931,7 +20895,6 @@ SubClassOf( ) "An abnormality of the uterus.") AnnotationAssertion( "HP:0008630") AnnotationAssertion( "HP:0008692") -AnnotationAssertion( "MSH:C562565") AnnotationAssertion( "SNOMEDCT_US:37849005") AnnotationAssertion( "UMLS:C0266383") AnnotationAssertion(Annotation( ) "Abnormality of the uterus") @@ -20946,7 +20909,6 @@ SubClassOf( ) "The presence of a leiomyoma of the uterus.") AnnotationAssertion( "HP:0008642") -AnnotationAssertion( "MSH:D007889") AnnotationAssertion( "NCIT:C3157") AnnotationAssertion( "SNOMEDCT_US:146801000119103") AnnotationAssertion( "SNOMEDCT_US:44598004") @@ -20963,7 +20925,6 @@ SubClassOf( ) Annotation( "PMID:22594864") "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.") AnnotationAssertion( "HP:0100609") -AnnotationAssertion( "MSH:D008595") AnnotationAssertion( "SNOMEDCT_US:386692008") AnnotationAssertion( "UMLS:C0025323") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally heavy bleeding during menstruation") @@ -20977,8 +20938,6 @@ SubClassOf( (Gonadal dysgenesis) AnnotationAssertion( "HP:0003243") -AnnotationAssertion( "MSH:D006059") -AnnotationAssertion( "MSH:D006060") AnnotationAssertion( "SNOMEDCT_US:205681004") AnnotationAssertion( "SNOMEDCT_US:38804009") AnnotationAssertion( "SNOMEDCT_US:83579008") @@ -21008,7 +20967,6 @@ SubClassOf( (Hypogonadism) AnnotationAssertion(Annotation( ) "A decreased functionality of the gonad.") -AnnotationAssertion( "MSH:D007006") AnnotationAssertion( "SNOMEDCT_US:48130008") AnnotationAssertion( "UMLS:C0020619") AnnotationAssertion(Annotation( ) Annotation( ) "Decreased activity of gonads") @@ -21032,7 +20990,6 @@ SubClassOf( (Abnormality of the ovary) AnnotationAssertion(Annotation( ) "An abnormality of the ovary.") -AnnotationAssertion( "MSH:D010049") AnnotationAssertion( "SNOMEDCT_US:5552004") AnnotationAssertion( "UMLS:C0029928") AnnotationAssertion( "UMLS:C4021818") @@ -21048,7 +21005,6 @@ SubClassOf( ) "The presence of one or more cysts of the ovary.") AnnotationAssertion( "HP:0000146") -AnnotationAssertion( "MSH:D010048") AnnotationAssertion( "SNOMEDCT_US:79883001") AnnotationAssertion( "UMLS:C0029927") AnnotationAssertion( "Cystic abnormalities of the ovaries") @@ -21064,7 +21020,6 @@ SubClassOf( ) "The presence of prolapse of the uterus.") AnnotationAssertion( "HP:0100824") -AnnotationAssertion( "MSH:D014596") AnnotationAssertion( "SNOMEDCT_US:24976005") AnnotationAssertion( "UMLS:C0042140") AnnotationAssertion(Annotation( ) Annotation( ) "Sagging uterus") @@ -21112,7 +21067,6 @@ SubClassOf( ) "The presence of a fistula between the vagina and the rectum.") AnnotationAssertion(Annotation(rdfs:label "Rectovaginal fistula") "MEDDRA:10051097") -AnnotationAssertion( "MSH:D012006") AnnotationAssertion( "SNOMEDCT_US:65619001") AnnotationAssertion( "UMLS:C0034895") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal connection between rectum and vagina") @@ -21145,7 +21099,6 @@ SubClassOf( "HP:0008644") AnnotationAssertion( "HP:0008657") -AnnotationAssertion( "MSH:D011085") AnnotationAssertion( "SNOMEDCT_US:69878008") AnnotationAssertion( "UMLS:C0032460") AnnotationAssertion( "UMLS:C1136382") @@ -21186,7 +21139,6 @@ SubClassOf( ) "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.") AnnotationAssertion( "HP:0006745") -AnnotationAssertion( "MSH:D018238") AnnotationAssertion( "NCIT:C3754") AnnotationAssertion( "SNOMEDCT_US:74751003") AnnotationAssertion( "UMLS:C0206661") @@ -21221,7 +21173,6 @@ SubClassOf( (Abnormality of the mouth) AnnotationAssertion(Annotation( ) "An abnormality of the mouth.") -AnnotationAssertion( "MSH:D009056") AnnotationAssertion( "SNOMEDCT_US:128334002") AnnotationAssertion( "UMLS:C0026633") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal mouth") @@ -21237,7 +21188,6 @@ SubClassOf( "PMID:19125428") "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).") AnnotationAssertion( "HP:0000181") AnnotationAssertion( "HP:0002052") -AnnotationAssertion( "MSH:D008265") AnnotationAssertion( "SNOMEDCT_US:40159009") AnnotationAssertion( "UMLS:C0024433") AnnotationAssertion(Annotation( ) "Broad mouth") @@ -21256,7 +21206,6 @@ SubClassOf( ) "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.") AnnotationAssertion(Annotation( ) Annotation( ) "Mouth sore") -AnnotationAssertion( "MSH:D019226") AnnotationAssertion( "SNOMEDCT_US:26284000") AnnotationAssertion( "UMLS:C0149745") AnnotationAssertion(Annotation( ) Annotation( ) "Mouth ulcer") @@ -21288,7 +21237,6 @@ AnnotationAssertion( ) "Glossal hypertrophy") AnnotationAssertion(Annotation( ) "Lingual hyperplasia") AnnotationAssertion(Annotation( ) "Lingual hypertrophy") -AnnotationAssertion( "MSH:D008260") AnnotationAssertion( "SNOMEDCT_US:25273001") AnnotationAssertion( "UMLS:C0024421") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally large tongue") @@ -21326,7 +21274,6 @@ AnnotationAssertion(Annotation( "HP:0002261") AnnotationAssertion( "HP:0009095") AnnotationAssertion( "HP:0009096") -AnnotationAssertion( "MSH:D008865") AnnotationAssertion( "SNOMEDCT_US:14582003") AnnotationAssertion( "UMLS:C0026034") AnnotationAssertion( "Microstomia") @@ -21356,7 +21303,6 @@ SubClassOf( ) Annotation( "PMID:19125428") "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.") AnnotationAssertion(Annotation( ) "Posterior displacement of the tongue") -AnnotationAssertion( "MSH:D065710") AnnotationAssertion( "SNOMEDCT_US:3639002") AnnotationAssertion( "UMLS:C0267048") AnnotationAssertion( "UMLS:C4280678") @@ -21385,7 +21331,6 @@ AnnotationAssertion(Annotation( "HP:0001567") AnnotationAssertion( "HP:0006296") AnnotationAssertion( "HP:0006348") -AnnotationAssertion( "MSH:D014071") AnnotationAssertion( "SNOMEDCT_US:422775003") AnnotationAssertion( "UMLS:C0040427") AnnotationAssertion( "UMLS:C0262444") @@ -21433,8 +21378,6 @@ SubClassOf( (Gingival fibromatosis) AnnotationAssertion(Annotation( ) "The presence of fibrosis of the gingiva.") -AnnotationAssertion( "MSH:C562884") -AnnotationAssertion( "MSH:D005351") AnnotationAssertion( "NCIT:C3041") AnnotationAssertion( "SNOMEDCT_US:109620006") AnnotationAssertion( "SNOMEDCT_US:58569000") @@ -21457,7 +21400,6 @@ SubClassOf( "PMID:19125428") "Decreased length and width of the tongue.") AnnotationAssertion( "HP:0000226") AnnotationAssertion( "HP:0009079") -AnnotationAssertion( "MSH:D014060") AnnotationAssertion( "SNOMEDCT_US:249380003") AnnotationAssertion( "SNOMEDCT_US:32614006") AnnotationAssertion( "UMLS:C0025988") @@ -21510,7 +21452,6 @@ AnnotationAssertion(Annotation( "HP:0410004") AnnotationAssertion( "Cleft secondary palate") AnnotationAssertion( "Fyler:4876") -AnnotationAssertion( "MSH:D002972") AnnotationAssertion( "SNOMEDCT_US:63567004") AnnotationAssertion( "SNOMEDCT_US:87979003") AnnotationAssertion( "UMLS:C0008925") @@ -21638,7 +21579,6 @@ SubClassOf( (Cleft soft palate) AnnotationAssertion(Annotation( ) "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.") -AnnotationAssertion( "MSH:C562950") AnnotationAssertion( "SNOMEDCT_US:253997002") AnnotationAssertion( "UMLS:C0432098") AnnotationAssertion(Annotation( ) "Cleft muscular palate") @@ -21829,7 +21769,6 @@ SubClassOf( (Pierre-Robin sequence) AnnotationAssertion(Annotation( ) "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.") -AnnotationAssertion( "MSH:D010855") AnnotationAssertion( "SNOMEDCT_US:4602007") AnnotationAssertion( "UMLS:C0031900") AnnotationAssertion( "Pierre Robin sequence") @@ -21863,7 +21802,6 @@ SubClassOf( ) "A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.") AnnotationAssertion( "Fyler:4875") -AnnotationAssertion( "MSH:D002971") AnnotationAssertion( "SNOMEDCT_US:80281008") AnnotationAssertion( "UMLS:C0008924") AnnotationAssertion(Annotation( ) "Cheiloschisis of upper lip") @@ -21889,7 +21827,6 @@ SubClassOf( (Glossitis) AnnotationAssertion(Annotation( ) "Inflammation of the tongue.") -AnnotationAssertion( "MSH:D005928") AnnotationAssertion( "SNOMEDCT_US:45534005") AnnotationAssertion( "UMLS:C0017675") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the tongue") @@ -21927,7 +21864,6 @@ AnnotationAssertion(Annotation( ) "Limited mandibular mobility") AnnotationAssertion(Annotation( ) "Limited mandibular opening") AnnotationAssertion(Annotation( ) "Limited mouth opening") -AnnotationAssertion( "MSH:D014313") AnnotationAssertion( "SNOMEDCT_US:87866006") AnnotationAssertion( "UMLS:C0041105") AnnotationAssertion( "UMLS:C1848474") @@ -21943,9 +21879,6 @@ SubClassOf( "PMID:19125428") "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.") AnnotationAssertion( "HP:0000195") -AnnotationAssertion( "MSH:D005885") -AnnotationAssertion( "MSH:D005886") -AnnotationAssertion( "MSH:D019214") AnnotationAssertion( "SNOMEDCT_US:441787004") AnnotationAssertion( "SNOMEDCT_US:441798003") AnnotationAssertion( "SNOMEDCT_US:54711002") @@ -22022,7 +21955,6 @@ AnnotationAssertion(Annotation( "HP:0002709") AnnotationAssertion( "HP:0100756") AnnotationAssertion(Annotation( ) Annotation( ) "Decreased salivary flow") -AnnotationAssertion( "MSH:D014987") AnnotationAssertion( "SNOMEDCT_US:300268000") AnnotationAssertion( "SNOMEDCT_US:56893005") AnnotationAssertion( "SNOMEDCT_US:87715008") @@ -22085,7 +22017,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_jhurst") "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.") AnnotationAssertion(Annotation( ) "Velopharyngeal dysfunction") -AnnotationAssertion( "MSH:D014681") AnnotationAssertion( "SNOMEDCT_US:229727006") AnnotationAssertion( "SNOMEDCT_US:232416001") AnnotationAssertion( "SNOMEDCT_US:278714002") @@ -22099,7 +22030,6 @@ SubClassOf( (Furrowed tongue) AnnotationAssertion(Annotation( "PMID:19125428") "Accentuation of the grooves on the dorsal surface of the tongue.") -AnnotationAssertion( "MSH:D014063") AnnotationAssertion( "SNOMEDCT_US:52368004") AnnotationAssertion( "UMLS:C0040412") AnnotationAssertion(Annotation( ) "Fissured tongue") @@ -22141,7 +22071,6 @@ SubClassOf( (Hypogeusia) AnnotationAssertion( "A decreased ability to perceive flavor.") -AnnotationAssertion( "MSH:D000370") AnnotationAssertion( "SNOMEDCT_US:697990000") AnnotationAssertion( "UMLS:C0151934") AnnotationAssertion(Annotation( ) "Decreased taste") @@ -22154,7 +22083,6 @@ SubClassOf( ) "Hemorrhage affecting the gingiva.") AnnotationAssertion( "HP:0000167") -AnnotationAssertion( "MSH:D005884") AnnotationAssertion( "SNOMEDCT_US:86276007") AnnotationAssertion( "UMLS:C0017565") AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding gums") @@ -22200,7 +22128,6 @@ SubClassOf( (Gingivitis) AnnotationAssertion(Annotation( ) "Inflammation of the gingiva.") -AnnotationAssertion( "MSH:D005891") AnnotationAssertion( "SNOMEDCT_US:66383009") AnnotationAssertion( "UMLS:C0017574") AnnotationAssertion(Annotation( ) "Gingival inflammation") @@ -22301,7 +22228,6 @@ SubClassOf( ) Annotation( "PMID:18211712") Annotation( "PMID:19410151") "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.") AnnotationAssertion( "HP:0007189") AnnotationAssertion( "HP:0008503") -AnnotationAssertion( "MSH:D006849") AnnotationAssertion( "SNOMEDCT_US:230745008") AnnotationAssertion( "UMLS:C0020255") AnnotationAssertion( "Hydrocephaly") @@ -22367,7 +22293,6 @@ SubClassOf( "PMID:19125436") "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.") AnnotationAssertion(Annotation( ) Annotation( ) "Triangular head shape") AnnotationAssertion(Annotation( ) Annotation( ) "Wedge shaped head") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:28740008") AnnotationAssertion( "UMLS:C0265535") AnnotationAssertion( "UMLS:C4280665") @@ -22412,8 +22337,6 @@ SubClassOf( ) "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.") AnnotationAssertion(Annotation( ) "Sinus infection") -AnnotationAssertion( "MSH:D010254") -AnnotationAssertion( "MSH:D012852") AnnotationAssertion( "SNOMEDCT_US:36971009") AnnotationAssertion( "SNOMEDCT_US:7393007") AnnotationAssertion( "UMLS:C0030469") @@ -22439,7 +22362,6 @@ AnnotationAssertion(Annotation( ) "Wide cranium shape") AnnotationAssertion(Annotation( ) Annotation( ) "Wide head shape") AnnotationAssertion(Annotation( ) Annotation( ) "Wide skull shape") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:13649004") AnnotationAssertion( "UMLS:C0221356") AnnotationAssertion( "UMLS:C4072823") @@ -22571,7 +22493,6 @@ SubClassOf( "PMID:19125436") "Tall head relative to width and length.") AnnotationAssertion( "HP:0001356") AnnotationAssertion(Annotation( ) Annotation( ) "Tall shaped head") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:48069004") AnnotationAssertion( "UMLS:C0030044") AnnotationAssertion(Annotation( ) "Tall shaped cranium") @@ -22588,7 +22509,6 @@ SubClassOf( (Oxycephaly) AnnotationAssertion(Annotation( ) "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "Acrocephaly") AnnotationAssertion( "HP:0000263") AnnotationAssertion(rdfs:label "Oxycephaly") @@ -22608,7 +22528,6 @@ SubClassOf( (Mastoiditis) -AnnotationAssertion( "MSH:D008417") AnnotationAssertion( "SNOMEDCT_US:52404001") AnnotationAssertion( "UMLS:C0024904") AnnotationAssertion( "HP:0000265") @@ -22866,7 +22785,6 @@ SubClassOf( ) "An abnormality in which the mandible is mislocalised posteriorly.") AnnotationAssertion( "HP:0002053") AnnotationAssertion( "HP:0002954") -AnnotationAssertion( "MSH:D063173") AnnotationAssertion( "UMLS:C3494422") AnnotationAssertion( "Lower jaw retrognathia") AnnotationAssertion(Annotation( ) "Receding chin") @@ -23171,7 +23089,6 @@ AnnotationAssertion( "HP:0008514") AnnotationAssertion(Annotation( ) "Hypertrophy of lower jaw") AnnotationAssertion(Annotation( ) "Hypertrophy of mandible") -AnnotationAssertion( "MSH:D008313") AnnotationAssertion( "SNOMEDCT_US:109504005") AnnotationAssertion( "SNOMEDCT_US:22810007") AnnotationAssertion( "UMLS:C0302501") @@ -23311,7 +23228,6 @@ AnnotationAssertion( "HP:0002001") AnnotationAssertion( "HP:0004657") AnnotationAssertion( "HP:0007871") -AnnotationAssertion( "MSH:D006972") AnnotationAssertion( "SNOMEDCT_US:194021007") AnnotationAssertion( "SNOMEDCT_US:22006008") AnnotationAssertion( "UMLS:C0020534") @@ -23333,7 +23249,6 @@ SubClassOf( ) "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).") AnnotationAssertion( "HP:0004651") -AnnotationAssertion( "MSH:D005155") AnnotationAssertion( "SNOMEDCT_US:1070000") AnnotationAssertion( "UMLS:C0270871") AnnotationAssertion( "Involuntary facial contraction") @@ -23403,7 +23318,6 @@ SubClassOf( ) "An abnormal difference between the left and right sides of the face.") AnnotationAssertion( "HP:0003775") -AnnotationAssertion( "MSH:D005146") AnnotationAssertion( "SNOMEDCT_US:15253005") AnnotationAssertion( "UMLS:C1306710") AnnotationAssertion( "Asymmetric facies") @@ -23675,7 +23589,6 @@ AnnotationAssertion( "HP:0005470") AnnotationAssertion(Annotation( ) "Deficiency of lower jaw") AnnotationAssertion( "Fyler:4163") -AnnotationAssertion( "MSH:D008844") AnnotationAssertion( "SNOMEDCT_US:32958008") AnnotationAssertion( "UMLS:C0025990") AnnotationAssertion( "UMLS:C0240295") @@ -23829,7 +23742,6 @@ SubClassOf( (Tinnitus) AnnotationAssertion( "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.") -AnnotationAssertion( "MSH:D014012") AnnotationAssertion( "SNOMEDCT_US:162349004") AnnotationAssertion( "SNOMEDCT_US:162352007") AnnotationAssertion( "SNOMEDCT_US:60862001") @@ -23851,7 +23763,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Otosclerosis) AnnotationAssertion(Annotation( ) Annotation( "PMID:15931303") "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.") -AnnotationAssertion( "MSH:D010040") AnnotationAssertion( "SNOMEDCT_US:11543004") AnnotationAssertion( "UMLS:C0029899") AnnotationAssertion( "HP:0000362") @@ -23899,8 +23810,6 @@ AnnotationAssertion( "HP:0008560") AnnotationAssertion( "HP:0008563") AnnotationAssertion( "Fyler:4868") -AnnotationAssertion( "MSH:D003638") -AnnotationAssertion( "MSH:D034381") AnnotationAssertion( "SNOMEDCT_US:103276001") AnnotationAssertion( "SNOMEDCT_US:15188001") AnnotationAssertion( "SNOMEDCT_US:343087000") @@ -24160,7 +24069,6 @@ SubClassOf( (Otitis media) AnnotationAssertion(Annotation( ) "Inflammation or infection of the middle ear.") -AnnotationAssertion( "MSH:D010033") AnnotationAssertion( "SNOMEDCT_US:65363002") AnnotationAssertion( "UMLS:C0029882") AnnotationAssertion(Annotation( ) Annotation( ) "Middle ear infection") @@ -24316,7 +24224,6 @@ SubClassOf( ) "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.") AnnotationAssertion( "HP:0000367") AnnotationAssertion( "HP:0008581") -AnnotationAssertion( "MSH:D006314") AnnotationAssertion( "SNOMEDCT_US:44057004") AnnotationAssertion( "UMLS:C0018777") AnnotationAssertion( "Conduction deafness") @@ -24344,7 +24251,6 @@ AnnotationAssertion( "HP:0008611") AnnotationAssertion( "HP:0008613") AnnotationAssertion( "HP:0008614") -AnnotationAssertion( "MSH:D006319") AnnotationAssertion( "SNOMEDCT_US:60700002") AnnotationAssertion( "UMLS:C0018784") AnnotationAssertion(Annotation( ) "Hearing loss, sensorineural") @@ -24382,7 +24288,6 @@ SubClassOf( (Mixed hearing impairment) AnnotationAssertion(Annotation( ) "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.") -AnnotationAssertion( "MSH:D046089") AnnotationAssertion( "SNOMEDCT_US:77507001") AnnotationAssertion( "UMLS:C0155552") AnnotationAssertion(Annotation( ) Annotation( ) "Hearing loss, mixed") @@ -24441,7 +24346,6 @@ SubClassOf( "PMID:19152422") "Increased volume and globular shape of the anteroinferior aspect of the nose.") AnnotationAssertion( "HP:0000443") -AnnotationAssertion( "MSH:C538354") AnnotationAssertion( "UMLS:C0240543") AnnotationAssertion( "UMLS:C1834118") AnnotationAssertion( "UMLS:C1855751") @@ -24528,7 +24432,6 @@ AnnotationAssertion( "EFO:0003895") AnnotationAssertion( "ICD10:R04.0") AnnotationAssertion( "ICD9:784.7") -AnnotationAssertion( "MSH:D004844") AnnotationAssertion( "NCIT:C26766") AnnotationAssertion( "SNOMEDCT_US:12441001") AnnotationAssertion( "SNOMEDCT_US:249366005") @@ -24861,7 +24764,6 @@ AnnotationAssertion( "HP:0004496") AnnotationAssertion( "HP:0004503") AnnotationAssertion( "Fyler:4203") -AnnotationAssertion( "MSH:D002754") AnnotationAssertion( "SNOMEDCT_US:204508009") AnnotationAssertion( "UMLS:C0008297") AnnotationAssertion(Annotation( ) Annotation( ) "Blockage of the rear opening of the nasal cavity") @@ -24950,7 +24852,6 @@ SubClassOf( (Anosmia) AnnotationAssertion(Annotation( ) "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.") -AnnotationAssertion( "MSH:D000857") AnnotationAssertion( "SNOMEDCT_US:44169009") AnnotationAssertion( "UMLS:C0003126") AnnotationAssertion( "Loss of smell") @@ -25111,7 +25012,6 @@ SubClassOf( (Torticollis) AnnotationAssertion(Annotation( ) "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.") -AnnotationAssertion( "MSH:D014103") AnnotationAssertion( "SNOMEDCT_US:270476009") AnnotationAssertion( "SNOMEDCT_US:70070008") AnnotationAssertion( "SNOMEDCT_US:74333002") @@ -25165,7 +25065,6 @@ SubClassOf( (Cystic hygroma) AnnotationAssertion(Annotation( ) "A cystic lymphatic lesion of the neck.") -AnnotationAssertion( "MSH:D018191") AnnotationAssertion( "NCIT:C8965") AnnotationAssertion( "SNOMEDCT_US:399882002") AnnotationAssertion( "SNOMEDCT_US:40225001") @@ -25180,8 +25079,6 @@ SubClassOf( (Abnormality of the eye) AnnotationAssertion(Annotation( ) "Any abnormality of the eye, including location, spacing, and intraocular abnormalities.") -AnnotationAssertion( "MSH:D005124") -AnnotationAssertion( "MSH:D005128") AnnotationAssertion( "SNOMEDCT_US:19416009") AnnotationAssertion( "SNOMEDCT_US:371405004") AnnotationAssertion( "SNOMEDCT_US:371409005") @@ -25200,7 +25097,6 @@ SubClassOf( ) "A structural abnormality of the retina.") AnnotationAssertion( "HP:0007938") -AnnotationAssertion( "MSH:D012164") AnnotationAssertion( "SNOMEDCT_US:29555009") AnnotationAssertion( "UMLS:C0035300") AnnotationAssertion( "UMLS:C0035309") @@ -25264,7 +25160,6 @@ SubClassOf( (Astigmatism) AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "HPO_CONTRIBUTOR:DDD_ncarter") "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.") -AnnotationAssertion( "MSH:D001251") AnnotationAssertion( "SNOMEDCT_US:82649003") AnnotationAssertion( "UMLS:C0004106") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal curving of the cornea or lens of the eye") @@ -25290,7 +25185,6 @@ SubClassOf( ) "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.") AnnotationAssertion( "HP:0007660") -AnnotationAssertion( "MSH:C562829") AnnotationAssertion( "SNOMEDCT_US:204118005") AnnotationAssertion( "SNOMEDCT_US:268158009") AnnotationAssertion( "UMLS:C0344530") @@ -25309,7 +25203,6 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:26319345") "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.") AnnotationAssertion( "HP:0000487") -AnnotationAssertion( "MSH:D013285") AnnotationAssertion( "SNOMEDCT_US:128602000") AnnotationAssertion( "SNOMEDCT_US:22066006") AnnotationAssertion( "UMLS:C0038379") @@ -25332,7 +25225,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Retinopathy) AnnotationAssertion(Annotation( ) "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.") -AnnotationAssertion( "MSH:D012164") AnnotationAssertion( "SNOMEDCT_US:29555009") AnnotationAssertion( "UMLS:C0035309") AnnotationAssertion(Annotation( ) Annotation( ) "Noninflammatory retina disease") @@ -25354,7 +25246,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "PMID:19125427") "An eye that is more deeply recessed into the plane of the face than is typical.") AnnotationAssertion( "HP:0000663") -AnnotationAssertion( "MSH:D015841") AnnotationAssertion( "SNOMEDCT_US:246923005") AnnotationAssertion( "SNOMEDCT_US:80093006") AnnotationAssertion( "UMLS:C0014306") @@ -25376,7 +25267,6 @@ SubClassOf( (Keratitis) AnnotationAssertion(Annotation( ) "Inflammation of the cornea.") -AnnotationAssertion( "MSH:D007634") AnnotationAssertion( "SNOMEDCT_US:5888003") AnnotationAssertion( "UMLS:C0022568") AnnotationAssertion(Annotation( ) Annotation( ) "Corneal inflammation") @@ -25443,7 +25333,6 @@ SubClassOf( ) "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.") AnnotationAssertion( "HP:0007674") AnnotationAssertion( "HP:0007749") -AnnotationAssertion( "MSH:D003320") AnnotationAssertion( "SNOMEDCT_US:2055003") AnnotationAssertion( "SNOMEDCT_US:91514001") AnnotationAssertion( "UMLS:C0010043") @@ -25493,7 +25382,6 @@ SubClassOf( (Blepharitis) AnnotationAssertion(Annotation( ) "Inflammation of the eyelids.") -AnnotationAssertion( "MSH:D001762") AnnotationAssertion( "SNOMEDCT_US:231796003") AnnotationAssertion( "SNOMEDCT_US:41446000") AnnotationAssertion( "UMLS:C0005741") @@ -25525,7 +25413,6 @@ SubClassOf( (Glaucoma) AnnotationAssertion(Annotation( ) Annotation( "PMID:11815354") "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.") -AnnotationAssertion( "MSH:D005901") AnnotationAssertion( "SNOMEDCT_US:23986001") AnnotationAssertion( "UMLS:C0017601") AnnotationAssertion( "HP:0000501") @@ -25574,8 +25461,6 @@ AnnotationAssertion( "HP:0007758") AnnotationAssertion( "HP:0007860") AnnotationAssertion( "HP:0007983") -AnnotationAssertion( "MSH:D014786") -AnnotationAssertion( "MSH:D015354") AnnotationAssertion( "SNOMEDCT_US:246635007") AnnotationAssertion( "SNOMEDCT_US:397540003") AnnotationAssertion( "SNOMEDCT_US:7973008") @@ -25594,7 +25479,6 @@ SubClassOf( (Telecanthus) AnnotationAssertion(Annotation( ) "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.") -AnnotationAssertion( "MSH:C562941") AnnotationAssertion( "SNOMEDCT_US:246803005") AnnotationAssertion( "UMLS:C0423113") AnnotationAssertion(Annotation( ) Annotation( ) "Corners of eye widely separated") @@ -25611,7 +25495,6 @@ SubClassOf( (Ptosis) AnnotationAssertion(Annotation( "PMID:19125427") "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).") -AnnotationAssertion( "MSH:D001763") AnnotationAssertion( "SNOMEDCT_US:11934000") AnnotationAssertion( "UMLS:C0005745") AnnotationAssertion( "Blepharoptosis") @@ -25628,7 +25511,6 @@ SubClassOf( (Conjunctivitis) AnnotationAssertion(Annotation( ) "Inflammation of the conjunctiva.") -AnnotationAssertion( "MSH:D003231") AnnotationAssertion( "SNOMEDCT_US:9826008") AnnotationAssertion( "UMLS:C0009763") AnnotationAssertion( "UMLS:C1864156") @@ -25654,7 +25536,6 @@ AnnotationAssertion( "HP:0007826") AnnotationAssertion( "HP:0007927") AnnotationAssertion( "HP:0008036") -AnnotationAssertion( "MSH:D012174") AnnotationAssertion( "SNOMEDCT_US:28835009") AnnotationAssertion( "UMLS:C0035334") AnnotationAssertion( "Retinitis pigmentosa") @@ -25711,7 +25592,6 @@ SubClassOf( (Abnormal lens morphology) AnnotationAssertion(Annotation( ) "An abnormality of the lens.") -AnnotationAssertion( "MSH:D007905") AnnotationAssertion( "SNOMEDCT_US:10810001") AnnotationAssertion( "UMLS:C0023308") AnnotationAssertion( "UMLS:C0549651") @@ -25730,7 +25610,6 @@ AnnotationAssertion( "HP:0007825") AnnotationAssertion( "HP:0010700") AnnotationAssertion( "Fyler:4865") -AnnotationAssertion( "MSH:D002386") AnnotationAssertion( "SNOMEDCT_US:128306009") AnnotationAssertion( "SNOMEDCT_US:193570009") AnnotationAssertion( "SNOMEDCT_US:247053007") @@ -25781,7 +25660,6 @@ AnnotationAssertion( "HP:0000645") AnnotationAssertion( "HP:0007711") AnnotationAssertion( "HP:0007870") -AnnotationAssertion( "MSH:D005094") AnnotationAssertion( "SNOMEDCT_US:18265008") AnnotationAssertion( "UMLS:C0015300") AnnotationAssertion( "UMLS:C1837760") @@ -25807,7 +25685,6 @@ SubClassOf( (Alacrima) AnnotationAssertion(Annotation( ) "Absence of tear secretion.") -AnnotationAssertion( "MSH:C562827") AnnotationAssertion( "SNOMEDCT_US:253215004") AnnotationAssertion( "UMLS:C0344505") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Absence of tears in the eyes") @@ -25864,7 +25741,6 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:24138039") Annotation( "PMID:25313118") Annotation( "PMID:29850208") "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.") AnnotationAssertion( "HP:0011498") -AnnotationAssertion( "MSH:D015783") AnnotationAssertion( "SNOMEDCT_US:69278003") AnnotationAssertion( "UMLS:C0003076") AnnotationAssertion(Annotation( ) Annotation( ) "Absent iris") @@ -25897,7 +25773,6 @@ AnnotationAssertion(Annotation( "HP:0001485") AnnotationAssertion( "HP:0007664") AnnotationAssertion( "Fyler:4864") -AnnotationAssertion( "MSH:D000853") AnnotationAssertion( "SNOMEDCT_US:204099004") AnnotationAssertion( "SNOMEDCT_US:7183006") AnnotationAssertion( "UMLS:C0003119") @@ -26012,7 +25887,6 @@ SubClassOf( (Pseudopapilledema) AnnotationAssertion(Annotation( ) "Apparent optic disc swelling in the absence of increased intracranial pressure.") -AnnotationAssertion( "MSH:C562401") AnnotationAssertion( "SNOMEDCT_US:57138009") AnnotationAssertion( "UMLS:C0155300") AnnotationAssertion( "HP:0000538") @@ -26032,7 +25906,6 @@ SubClassOf( (Hypermetropia) AnnotationAssertion(Annotation( ) "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.") -AnnotationAssertion( "MSH:D006956") AnnotationAssertion( "SNOMEDCT_US:38101003") AnnotationAssertion( "UMLS:C0020490") AnnotationAssertion(Annotation( ) "Farsightedness") @@ -26049,7 +25922,6 @@ SubClassOf( ) "Separation of the inner layers of the retina (neural retina) from the pigment epithelium.") AnnotationAssertion( "HP:0007864") AnnotationAssertion( "HP:0008021") -AnnotationAssertion( "MSH:D012163") AnnotationAssertion( "SNOMEDCT_US:42059000") AnnotationAssertion( "UMLS:C0035305") AnnotationAssertion(Annotation( ) "Detached retina") @@ -26089,8 +25961,6 @@ SubClassOf( ) "Paralysis of the external ocular muscles.") AnnotationAssertion( "HP:0007762") -AnnotationAssertion( "MSH:D009886") -AnnotationAssertion( "MSH:D017246") AnnotationAssertion( "SNOMEDCT_US:19373007") AnnotationAssertion( "SNOMEDCT_US:46252003") AnnotationAssertion( "UMLS:C0162292") @@ -26111,7 +25981,6 @@ AnnotationAssertion(Annotation( "HP:0001110") AnnotationAssertion( "HP:0007847") AnnotationAssertion( "HP:0008012") -AnnotationAssertion( "MSH:D009216") AnnotationAssertion( "SNOMEDCT_US:57190000") AnnotationAssertion( "UMLS:C0027092") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Close sighted") @@ -26130,7 +25999,6 @@ AnnotationAssertion( "HP:0007790") AnnotationAssertion( "HP:0007863") AnnotationAssertion( "HP:0007893") -AnnotationAssertion( "MSH:D012162") AnnotationAssertion( "SNOMEDCT_US:95695004") AnnotationAssertion( "UMLS:C0035304") AnnotationAssertion(Annotation( ) Annotation( ) "Retina degeneration") @@ -26151,7 +26019,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Cone/cone-rod dystrophy) AnnotationAssertion( "HP:0008157") -AnnotationAssertion( "MSH:D012174") AnnotationAssertion( "Cone rod dystrophy") AnnotationAssertion( "Cone-rod retinal dystrophy") AnnotationAssertion( "HP:0000548") @@ -26185,7 +26052,6 @@ SubClassOf( (Color vision defect) AnnotationAssertion(Annotation( ) "An anomaly in the ability to discriminate between or recognize colors.") -AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:23289000") AnnotationAssertion( "SNOMEDCT_US:367469000") AnnotationAssertion( "UMLS:C0009398") @@ -26212,7 +26078,6 @@ SubClassOf( (Tritanomaly) AnnotationAssertion(Annotation( ) "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.") -AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:51886007") AnnotationAssertion( "SNOMEDCT_US:85049009") AnnotationAssertion( "UMLS:C0155017") @@ -26240,7 +26105,6 @@ SubClassOf( (Uveitis) AnnotationAssertion(Annotation( ) "Inflammation of one or all portions of the uveal tract.") -AnnotationAssertion( "MSH:D014605") AnnotationAssertion( "SNOMEDCT_US:128473001") AnnotationAssertion( "UMLS:C0042164") AnnotationAssertion( "HP:0000554") @@ -26270,7 +26134,6 @@ AnnotationAssertion( "HP:0007910") AnnotationAssertion( "HP:0007974") AnnotationAssertion( "HP:0007982") -AnnotationAssertion( "MSH:D058499") AnnotationAssertion( "SNOMEDCT_US:314407005") AnnotationAssertion( "UMLS:C0854723") AnnotationAssertion(Annotation( ) Annotation( ) "Breakdown of light-sensitive cells in back of eye") @@ -26282,7 +26145,6 @@ SubClassOf( (Buphthalmos) AnnotationAssertion( "Diffusely large eye (with megalocornea) associated with glaucoma.") -AnnotationAssertion( "MSH:D006871") AnnotationAssertion( "UMLS:C4551507") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/buphthalmos") Annotation( ) "Enlarged eyeball") AnnotationAssertion( "HP:0000557") @@ -26295,7 +26157,6 @@ SubClassOf( (Rieger anomaly) AnnotationAssertion(Annotation( ) "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.") -AnnotationAssertion( "MSH:C535679") AnnotationAssertion( "SNOMEDCT_US:47507006") AnnotationAssertion( "UMLS:C0265341") AnnotationAssertion( "HP:0000558") @@ -26305,7 +26166,6 @@ SubClassOf( (Corneal scarring) -AnnotationAssertion( "MSH:D065306") AnnotationAssertion( "SNOMEDCT_US:95726001") AnnotationAssertion( "UMLS:C0349702") AnnotationAssertion( "HP:0000559") @@ -26340,7 +26200,6 @@ SubClassOf( (Keratoconus) AnnotationAssertion(Annotation( ) Annotation( "PMID:7767020") "A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.") -AnnotationAssertion( "MSH:D007640") AnnotationAssertion( "SNOMEDCT_US:65636009") AnnotationAssertion( "UMLS:C0022578") AnnotationAssertion(Annotation( ) Annotation( ) "Bulging cornea") @@ -26369,7 +26228,6 @@ SubClassOf( (Esotropia) AnnotationAssertion(Annotation( ) "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.") -AnnotationAssertion( "MSH:D004948") AnnotationAssertion( "SNOMEDCT_US:16596007") AnnotationAssertion( "UMLS:C0014877") AnnotationAssertion(Annotation( ) Annotation( ) "Inward turning cross eyed") @@ -26407,7 +26265,6 @@ AnnotationAssertion( ) Annotation( ) "Decreased size of eyeball") AnnotationAssertion(Annotation( ) "Decreased size of globe of eye") AnnotationAssertion( "Fyler:4877") -AnnotationAssertion( "MSH:D008850") AnnotationAssertion( "SNOMEDCT_US:204108000") AnnotationAssertion( "SNOMEDCT_US:61142002") AnnotationAssertion( "UMLS:C0026010") @@ -26461,7 +26318,6 @@ SubClassOf( (Retinal hemorrhage) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "Hemorrhage occurring within the retina.") -AnnotationAssertion( "MSH:D012166") AnnotationAssertion( "SNOMEDCT_US:28998008") AnnotationAssertion( "UMLS:C0035317") AnnotationAssertion(Annotation( ) "Retinal bleeding") @@ -26501,8 +26357,6 @@ SubClassOf( ) "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.") AnnotationAssertion(Annotation( ) Annotation( ) "Blind spot") -AnnotationAssertion( "MSH:D009898") -AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:23388006") AnnotationAssertion( "SNOMEDCT_US:81016008") AnnotationAssertion( "UMLS:C0036454") @@ -26515,7 +26369,6 @@ SubClassOf( (Centrocecal scotoma) AnnotationAssertion(Annotation( ) "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.") -AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:33014001") AnnotationAssertion( "UMLS:C0271196") AnnotationAssertion( "HP:0000576") @@ -26526,7 +26379,6 @@ SubClassOf( ) "A form of strabismus with one or both eyes deviated outward.") AnnotationAssertion( "HP:0008033") -AnnotationAssertion( "MSH:D005099") AnnotationAssertion( "SNOMEDCT_US:399054005") AnnotationAssertion( "SNOMEDCT_US:399252000") AnnotationAssertion( "UMLS:C0015310") @@ -26540,7 +26392,6 @@ SubClassOf( (Nasolacrimal duct obstruction) AnnotationAssertion(Annotation( ) "Blockage of the lacrimal duct.") -AnnotationAssertion( "MSH:D007767") AnnotationAssertion( "SNOMEDCT_US:231841004") AnnotationAssertion( "SNOMEDCT_US:246865000") AnnotationAssertion( "SNOMEDCT_US:314022009") @@ -26566,7 +26417,6 @@ AnnotationAssertion( "HP:0007934") AnnotationAssertion( "HP:0007961") AnnotationAssertion( "HP:0008010") -AnnotationAssertion( "MSH:D012174") AnnotationAssertion( "SNOMEDCT_US:28835009") AnnotationAssertion( "UMLS:C0035334") AnnotationAssertion( "Pigmentary retinal deposits") @@ -26582,7 +26432,6 @@ SubClassOf( "PMID:19125427") "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.") AnnotationAssertion( "HP:0000507") AnnotationAssertion( "HP:0000513") -AnnotationAssertion( "MSH:D016569") AnnotationAssertion( "UMLS:C0005744") AnnotationAssertion(Annotation( ) "Decreased width of palpebral fissure") AnnotationAssertion(Annotation( ) Annotation( ) "Narrow opening between the eyelids") @@ -26620,7 +26469,6 @@ SubClassOf( (Band keratopathy) AnnotationAssertion(Annotation( ) "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.") -AnnotationAssertion( "MSH:C562399") AnnotationAssertion( "SNOMEDCT_US:35055000") AnnotationAssertion( "UMLS:C0155120") AnnotationAssertion( "Calcific band keratopathy") @@ -26662,7 +26510,6 @@ SubClassOf( ) Annotation( "PMID:16219745") "A cleft of the optic nerve that extends inferiorly.") AnnotationAssertion( "HP:0007997") -AnnotationAssertion( "MSH:C535970") AnnotationAssertion( "SNOMEDCT_US:17541006") AnnotationAssertion( "SNOMEDCT_US:44295002") AnnotationAssertion( "UMLS:C0155299") @@ -26683,7 +26530,6 @@ AnnotationAssertion(Annotation( "HP:0007767") AnnotationAssertion( "HP:0007995") AnnotationAssertion( "Fyler:4311") -AnnotationAssertion( "MSH:D003103") AnnotationAssertion( "SNOMEDCT_US:92828000") AnnotationAssertion( "SNOMEDCT_US:93390002") AnnotationAssertion( "UMLS:C0009363") @@ -26699,7 +26545,6 @@ SubClassOf( ) "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.") AnnotationAssertion( "HP:0000562") -AnnotationAssertion( "MSH:D017246") AnnotationAssertion( "SNOMEDCT_US:46252003") AnnotationAssertion( "UMLS:C0162674") AnnotationAssertion( "External ophthalmoplegia, progressive") @@ -26767,7 +26612,6 @@ SubClassOf( ) "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.") AnnotationAssertion( "HP:0007701") AnnotationAssertion( "HP:0008044") -AnnotationAssertion( "MSH:D009886") AnnotationAssertion( "UMLS:C0751401") AnnotationAssertion( "Extraocular muscle palsy") AnnotationAssertion( "Extraocular muscle paralysis") @@ -26837,7 +26681,6 @@ SubClassOf( (Ophthalmoplegia) AnnotationAssertion(Annotation( ) "Paralysis of one or more extraocular muscles that are responsible for eye movements.") -AnnotationAssertion( "MSH:D009886") AnnotationAssertion( "SNOMEDCT_US:16110005") AnnotationAssertion( "UMLS:C0029089") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Eye muscle paralysis") @@ -26851,7 +26694,6 @@ SubClassOf( ) "An area of depressed vision located at the point of fixation and that interferes with central vision.") AnnotationAssertion(Annotation( ) Annotation( ) "Blind spot located at fixation point") -AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:38950008") AnnotationAssertion( "UMLS:C0152191") AnnotationAssertion( "UMLS:C4280624") @@ -26933,7 +26775,6 @@ SubClassOf( ) "Any structural abnormality of the choroid.") AnnotationAssertion( "HP:0001122") -AnnotationAssertion( "MSH:D015862") AnnotationAssertion( "UMLS:C0008521") AnnotationAssertion( "UMLS:C4025836") AnnotationAssertion( "Abnormality of the choroid") @@ -26977,7 +26818,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D020795") AnnotationAssertion( "SNOMEDCT_US:246622003") AnnotationAssertion( "SNOMEDCT_US:409668002") AnnotationAssertion( "UMLS:C0085636") @@ -27025,7 +26865,6 @@ SubClassOf( (Miosis) AnnotationAssertion(Annotation( ) "Abnormal (non-physiological) constriction of the pupil.") -AnnotationAssertion( "MSH:D015877") AnnotationAssertion( "SNOMEDCT_US:63251006") AnnotationAssertion( "UMLS:C0026205") AnnotationAssertion(Annotation( ) Annotation( ) "Constricted pupils") @@ -27056,7 +26895,6 @@ SubClassOf( ) Annotation( "PMID:28779882") "Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.") AnnotationAssertion( "HP:0007839") AnnotationAssertion( "Fyler:4866") -AnnotationAssertion( "MSH:D001766") AnnotationAssertion( "SNOMEDCT_US:65956007") AnnotationAssertion( "UMLS:C0271215") AnnotationAssertion( "UMLS:C0456909") @@ -27073,7 +26911,6 @@ SubClassOf( (Impaired convergence) AnnotationAssertion(Annotation( ) "Reduced ability to turn the eyes inward in order to focus on a nearby object.") -AnnotationAssertion( "MSH:D015835") AnnotationAssertion( "SNOMEDCT_US:194131002") AnnotationAssertion( "UMLS:C0271379") AnnotationAssertion( "Convergence insufficiency") @@ -27085,7 +26922,6 @@ SubClassOf( (Dacryocystitis) AnnotationAssertion(Annotation( ) "Inflammation of the nasolacrimal sac.") -AnnotationAssertion( "MSH:D003607") AnnotationAssertion( "SNOMEDCT_US:85777005") AnnotationAssertion( "UMLS:C0010930") AnnotationAssertion( "Dacrocystitis") @@ -27099,7 +26935,6 @@ SubClassOf( ) Annotation( "PMID:19125427") "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.") AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid folded in") -AnnotationAssertion( "MSH:D004774") AnnotationAssertion( "SNOMEDCT_US:33168009") AnnotationAssertion( "UMLS:C0014390") AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid turned in") @@ -27275,7 +27110,6 @@ SubClassOf( (Nystagmus) AnnotationAssertion(Annotation( ) "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.") -AnnotationAssertion( "MSH:D009759") AnnotationAssertion( "SNOMEDCT_US:563001") AnnotationAssertion( "UMLS:C0028738") AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary, rapid, rhythmic eye movements") @@ -27288,7 +27122,6 @@ SubClassOf( (Gaze-evoked nystagmus) AnnotationAssertion(Annotation( ) "Nystagmus made apparent by looking to the right or to the left.") -AnnotationAssertion( "MSH:D009760") AnnotationAssertion( "SNOMEDCT_US:29356006") AnnotationAssertion( "UMLS:C0271390") AnnotationAssertion( "HP:0000640") @@ -27311,7 +27144,6 @@ SubClassOf( ) "Difficulty with discriminating red and green hues.") AnnotationAssertion( "HP:0007960") -AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:246674000") AnnotationAssertion( "SNOMEDCT_US:77479002") AnnotationAssertion( "UMLS:C0155016") @@ -27329,7 +27161,6 @@ SubClassOf( ) "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.") AnnotationAssertion( "HP:0007907") -AnnotationAssertion( "MSH:D001764") AnnotationAssertion( "SNOMEDCT_US:59026006") AnnotationAssertion( "UMLS:C0005747") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Eyelid spasm") @@ -27344,7 +27175,6 @@ SubClassOf( (Amblyopia) AnnotationAssertion(Annotation( ) "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.") -AnnotationAssertion( "MSH:D000550") AnnotationAssertion( "SNOMEDCT_US:387742006") AnnotationAssertion( "UMLS:C0002418") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Lazy eye") @@ -27359,7 +27189,6 @@ SubClassOf( (Sclerocornea) AnnotationAssertion(Annotation( ) "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.") -AnnotationAssertion( "MSH:C565209") AnnotationAssertion( "UMLS:C1853235") AnnotationAssertion(Annotation( ) Annotation( ) "Hardening of skin and connective tissue") AnnotationAssertion( "HP:0000647") @@ -27372,7 +27201,6 @@ SubClassOf( ) "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.") AnnotationAssertion( "HP:0007751") AnnotationAssertion( "HP:0007855") -AnnotationAssertion( "MSH:D009896") AnnotationAssertion( "SNOMEDCT_US:76976005") AnnotationAssertion( "UMLS:C0029124") AnnotationAssertion( "Optic nerve atrophy") @@ -27411,7 +27239,6 @@ SubClassOf( (Diplopia) AnnotationAssertion(Annotation( ) "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.") -AnnotationAssertion( "MSH:D004172") AnnotationAssertion( "SNOMEDCT_US:24982008") AnnotationAssertion( "UMLS:C0012569") AnnotationAssertion(Annotation( ) "Double vision") @@ -27489,7 +27316,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "PMID:19125427") "An outward turning (eversion) or rotation of the eyelid margin.") AnnotationAssertion(Annotation( ) Annotation( ) "Eyelid folded out") -AnnotationAssertion( "MSH:D004483") AnnotationAssertion( "SNOMEDCT_US:127559009") AnnotationAssertion( "SNOMEDCT_US:62909004") AnnotationAssertion( "UMLS:C0013592") @@ -27507,7 +27333,6 @@ SubClassOf( ) Annotation( "PMID:20615230") "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.") AnnotationAssertion( "HP:0000628") AnnotationAssertion( "HP:0007764") -AnnotationAssertion( "MSH:C537423") AnnotationAssertion( "SNOMEDCT_US:193662007") AnnotationAssertion( "UMLS:C3489733") AnnotationAssertion( "UMLS:C4020886") @@ -27534,7 +27359,6 @@ SubClassOf( (Peters anomaly) AnnotationAssertion(Annotation( ) "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.") -AnnotationAssertion( "MSH:C537884") AnnotationAssertion( "SNOMEDCT_US:204153003") AnnotationAssertion( "UMLS:C0344559") AnnotationAssertion( "HP:0000659") @@ -27566,7 +27390,6 @@ AnnotationAssertion( "HP:0007725") AnnotationAssertion( "HP:0007865") AnnotationAssertion( "HP:0007895") -AnnotationAssertion( "MSH:D009755") AnnotationAssertion( "SNOMEDCT_US:65194006") AnnotationAssertion( "UMLS:C0028077") AnnotationAssertion( "UMLS:C4020885") @@ -27597,7 +27420,6 @@ SubClassOf( (Horizontal nystagmus) AnnotationAssertion(Annotation( ) "Nystagmus consisting of horizontal to-and-fro eye movements.") -AnnotationAssertion( "MSH:D009759") AnnotationAssertion( "SNOMEDCT_US:81756001") AnnotationAssertion( "UMLS:C0271385") AnnotationAssertion( "Nystagmus, horizontal") @@ -27621,7 +27443,6 @@ SubClassOf( (Hypodontia) AnnotationAssertion(Annotation( ) Annotation( "PMID:31468724") "The absence of five or less teeth from the normal series by a failure to develop.") -AnnotationAssertion( "MSH:D000848") AnnotationAssertion( "SNOMEDCT_US:64969001") AnnotationAssertion( "UMLS:C0020608") AnnotationAssertion(Annotation( ) Annotation( ) "Failure of development of between one and six teeth") @@ -27637,7 +27458,6 @@ SubClassOf( ) "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.") AnnotationAssertion( "HP:0006295") AnnotationAssertion( "HP:0006306") -AnnotationAssertion( "MSH:D003731") AnnotationAssertion( "SNOMEDCT_US:80967001") AnnotationAssertion( "UMLS:C0011334") AnnotationAssertion( "UMLS:C4280623") @@ -27661,7 +27481,6 @@ SubClassOf( ) Annotation( "PMID:31468724") "The absence of all teeth from the normal series by a failure to develop.") AnnotationAssertion( "HP:0006484") -AnnotationAssertion( "MSH:D000848") AnnotationAssertion( "SNOMEDCT_US:16958000") AnnotationAssertion( "SNOMEDCT_US:26624006") AnnotationAssertion( "UMLS:C0399352") @@ -27734,7 +27553,6 @@ AnnotationAssertion(Annotation( ) "Inadequate arch length for tooth size") AnnotationAssertion(Annotation( ) "Tooth mass arch size discrepancy") AnnotationAssertion(Annotation( ) Annotation( ) "Tooth size discrepancy") -AnnotationAssertion( "MSH:D008310") AnnotationAssertion( "SNOMEDCT_US:12351004") AnnotationAssertion( "SNOMEDCT_US:699222000") AnnotationAssertion( "UMLS:C0040433") @@ -27755,7 +27573,6 @@ SubClassOf( (Taurodontia) AnnotationAssertion(Annotation( ) Annotation( "PMID:31468724") "Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.") -AnnotationAssertion( "MSH:C536946") AnnotationAssertion( "SNOMEDCT_US:51744007") AnnotationAssertion( "UMLS:C0266039") AnnotationAssertion( "UMLS:C4280616") @@ -27889,7 +27706,6 @@ SubClassOf( (Dental malocclusion) AnnotationAssertion(Annotation( "PMID:31468724") "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.") -AnnotationAssertion( "MSH:D008310") AnnotationAssertion( "SNOMEDCT_US:47944004") AnnotationAssertion( "SNOMEDCT_US:707598004") AnnotationAssertion( "UMLS:C0024636") @@ -27992,7 +27808,6 @@ SubClassOf( (Natal tooth) AnnotationAssertion(Annotation( "PMID:19125428") Annotation( "PMID:31468724") "A tooth present at birth or erupting within the first month of life.") -AnnotationAssertion( "MSH:D009306") AnnotationAssertion( "SNOMEDCT_US:21995002") AnnotationAssertion( "SNOMEDCT_US:58748004") AnnotationAssertion( "UMLS:C0027443") @@ -28046,7 +27861,6 @@ SubClassOf( "PMID:19125428") "Increased space between two adjacent teeth in the same dental arch.") AnnotationAssertion(Annotation( ) Annotation( ) "Gaps between teeth") -AnnotationAssertion( "MSH:D003970") AnnotationAssertion( "SNOMEDCT_US:35591002") AnnotationAssertion( "UMLS:C0011998") AnnotationAssertion(Annotation( ) "Dental diastasis") @@ -28063,8 +27877,6 @@ SubClassOf( (Periapical bone loss) AnnotationAssertion(Annotation( ) "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).") -AnnotationAssertion( "MSH:D010484") -AnnotationAssertion( "MSH:D011842") AnnotationAssertion( "SNOMEDCT_US:81407003") AnnotationAssertion( "SNOMEDCT_US:89988002") AnnotationAssertion( "UMLS:C0031029") @@ -28086,7 +27898,6 @@ SubClassOf( (Dentinogenesis imperfecta) AnnotationAssertion(Annotation( ) "Developmental dysplasia of dentin.") -AnnotationAssertion( "MSH:D003811") AnnotationAssertion( "SNOMEDCT_US:196286005") AnnotationAssertion( "UMLS:C0011436") AnnotationAssertion( "HP:0000703") @@ -28104,9 +27915,6 @@ AnnotationAssertion( "HP:0006301") AnnotationAssertion(Annotation( ) Annotation( ) "Gum disease") AnnotationAssertion( "Periodontal disease") -AnnotationAssertion( "MSH:D005882") -AnnotationAssertion( "MSH:D010510") -AnnotationAssertion( "MSH:D010518") AnnotationAssertion( "SNOMEDCT_US:18718003") AnnotationAssertion( "SNOMEDCT_US:2556008") AnnotationAssertion( "SNOMEDCT_US:41565005") @@ -28130,7 +27938,6 @@ AnnotationAssertion( "HP:0006325") AnnotationAssertion( "HP:0006327") AnnotationAssertion( "HP:0006331") -AnnotationAssertion( "MSH:D000567") AnnotationAssertion( "SNOMEDCT_US:78494001") AnnotationAssertion( "UMLS:C0002452") AnnotationAssertion( "HP:0000705") @@ -28161,7 +27968,6 @@ AnnotationAssertion(Annotation( "HP:0001333") AnnotationAssertion( "HP:0006987") AnnotationAssertion(Annotation( ) "Brain and/or spinal cord issue") -AnnotationAssertion( "MSH:D009421") AnnotationAssertion( "SNOMEDCT_US:88425004") AnnotationAssertion( "UMLS:C0497552") AnnotationAssertion(Annotation( ) "Abnormality of the nervous system") @@ -28184,8 +27990,6 @@ AnnotationAssertion(dcterms:contributor "HP:0000715") AnnotationAssertion( "HP:0002368") AnnotationAssertion( "HP:0002456") -AnnotationAssertion( "MSH:D000066553") -AnnotationAssertion( "MSH:D001526") AnnotationAssertion( "SNOMEDCT_US:25786006") AnnotationAssertion( "SNOMEDCT_US:277843001") AnnotationAssertion( "UMLS:C0004941") @@ -28223,7 +28027,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D011618") AnnotationAssertion( "SNOMEDCT_US:69322001") AnnotationAssertion( "UMLS:C0033975") AnnotationAssertion(Annotation( ) "Psychosis") @@ -28321,7 +28124,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D003866") AnnotationAssertion( "SNOMEDCT_US:21061000119107") AnnotationAssertion( "SNOMEDCT_US:35489007") AnnotationAssertion( "SNOMEDCT_US:78667006") @@ -28339,7 +28141,6 @@ SubClassOf( (Autism) AnnotationAssertion(Annotation( ) "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).") -AnnotationAssertion( "MSH:D001321") AnnotationAssertion( "SNOMEDCT_US:408856003") AnnotationAssertion( "SNOMEDCT_US:408857007") AnnotationAssertion( "SNOMEDCT_US:43614003") @@ -28358,7 +28159,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D000374") AnnotationAssertion( "SNOMEDCT_US:248004009") AnnotationAssertion( "SNOMEDCT_US:61372001") AnnotationAssertion( "UMLS:C0001807") @@ -28421,8 +28221,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D003192") -AnnotationAssertion( "MSH:D009771") AnnotationAssertion( "SNOMEDCT_US:12479006") AnnotationAssertion( "SNOMEDCT_US:191736004") AnnotationAssertion( "UMLS:C0028768") @@ -28475,7 +28273,6 @@ AnnotationAssertion( "HP:0007122") AnnotationAssertion( "HP:0007150") AnnotationAssertion( "HP:0007283") -AnnotationAssertion( "MSH:D003704") AnnotationAssertion( "SNOMEDCT_US:52448006") AnnotationAssertion( "UMLS:C0497327") AnnotationAssertion(Annotation( ) "Dementia") @@ -28506,7 +28303,6 @@ SubClassOf( (Autistic behavior) AnnotationAssertion(Annotation( ) Annotation( "PMID:28879490") "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.") -AnnotationAssertion( "MSH:D000067877") AnnotationAssertion( "UMLS:C0856975") AnnotationAssertion( "UMLS:C1510586") AnnotationAssertion(Annotation( ) "ASD") @@ -28544,8 +28340,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "HP:0008758") AnnotationAssertion( "HP:0008759") -AnnotationAssertion( "MSH:D013239") -AnnotationAssertion( "MSH:D019956") AnnotationAssertion( "SNOMEDCT_US:5507002") AnnotationAssertion( "SNOMEDCT_US:84328007") AnnotationAssertion( "UMLS:C0038271") @@ -28653,7 +28447,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D006212") AnnotationAssertion( "SNOMEDCT_US:7011001") AnnotationAssertion( "UMLS:C0018524") AnnotationAssertion( "UMLS:C0235153") @@ -28675,7 +28468,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D001007") AnnotationAssertion( "SNOMEDCT_US:48694002") AnnotationAssertion( "UMLS:C0003467") AnnotationAssertion( "UMLS:C4020884") @@ -28713,7 +28505,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D057565") AnnotationAssertion( "SNOMEDCT_US:20602000") AnnotationAssertion( "UMLS:C0085632") AnnotationAssertion(Annotation( ) Annotation( ) "Lack of feeling, emotion, interest") @@ -28734,7 +28525,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D012652") AnnotationAssertion( "SNOMEDCT_US:130968006") AnnotationAssertion( "UMLS:C0036601") AnnotationAssertion(Annotation( ) Annotation( ) "Deliberate self-harm") @@ -28801,7 +28591,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D003702") AnnotationAssertion( "SNOMEDCT_US:2073000") AnnotationAssertion( "UMLS:C0011253") AnnotationAssertion(Annotation( ) "Delusions") @@ -28847,7 +28636,6 @@ AnnotationAssertion( "HP:0007127") AnnotationAssertion( "HP:0007170") AnnotationAssertion( "HP:0007172") -AnnotationAssertion( "MSH:D007805") AnnotationAssertion( "SNOMEDCT_US:162294008") AnnotationAssertion( "SNOMEDCT_US:229721007") AnnotationAssertion( "SNOMEDCT_US:29164008") @@ -28917,7 +28705,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "HP:0008764") -AnnotationAssertion( "MSH:D006948") AnnotationAssertion( "SNOMEDCT_US:44548000") AnnotationAssertion( "UMLS:C0424295") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Hyperactive behavior") @@ -28947,7 +28734,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D000379") AnnotationAssertion( "SNOMEDCT_US:247830007") AnnotationAssertion( "SNOMEDCT_US:70691001") AnnotationAssertion( "UMLS:C0001818") @@ -28995,7 +28781,6 @@ SubClassOf( ) "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).") AnnotationAssertion( "HP:0003483") -AnnotationAssertion( "MSH:D010523") AnnotationAssertion( "SNOMEDCT_US:302226006") AnnotationAssertion( "SNOMEDCT_US:42658009") AnnotationAssertion( "UMLS:C0031117") @@ -29111,7 +28896,6 @@ SubClassOf( ) "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.") AnnotationAssertion( "HP:0006639") -AnnotationAssertion( "MSH:D066166") AnnotationAssertion( "SNOMEDCT_US:205101001") AnnotationAssertion( "UMLS:C0158731") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/pectus_carinatum") Annotation( ) "Pigeon chest") @@ -29136,7 +28920,6 @@ SubClassOf( ) "Abnormal development of large mammary glands in males resulting in breast enlargement.") AnnotationAssertion( "HP:0000770") -AnnotationAssertion( "MSH:D006177") AnnotationAssertion( "SNOMEDCT_US:4754008") AnnotationAssertion( "UMLS:C0018418") AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged male breast") @@ -29212,7 +28995,6 @@ SubClassOf( ) "The presence of a hernia of the diaphragm present at birth.") AnnotationAssertion( "HP:0006604") -AnnotationAssertion( "MSH:D065630") AnnotationAssertion( "SNOMEDCT_US:17190001") AnnotationAssertion( "UMLS:C0235833") AnnotationAssertion( "Diaphragmatic hernia") @@ -29273,7 +29055,6 @@ SubClassOf( ) "The presence of calculi (stones) in the kidneys.") AnnotationAssertion( "HP:0000102") -AnnotationAssertion( "MSH:D053040") AnnotationAssertion( "UMLS:C0392525") AnnotationAssertion(Annotation( ) "Kidney stones") AnnotationAssertion( "Renal calculi") @@ -29285,7 +29066,6 @@ SubClassOf( (Infertility) -AnnotationAssertion( "MSH:D007246") AnnotationAssertion( "SNOMEDCT_US:15296000") AnnotationAssertion( "SNOMEDCT_US:8619003") AnnotationAssertion( "UMLS:C0021359") @@ -29299,7 +29079,6 @@ SubClassOf( ) "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).") AnnotationAssertion(Annotation( ) "High urine occult blood") -AnnotationAssertion( "MSH:D006417") AnnotationAssertion( "SNOMEDCT_US:34436003") AnnotationAssertion( "SNOMEDCT_US:53298000") AnnotationAssertion( "UMLS:C0018965") @@ -29324,7 +29103,6 @@ SubClassOf( (Membranoproliferative glomerulonephritis) AnnotationAssertion(Annotation( "PMID:19908070") "A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity") -AnnotationAssertion( "MSH:D015432") AnnotationAssertion( "SNOMEDCT_US:80321008") AnnotationAssertion( "UMLS:C0017662") AnnotationAssertion(Annotation( ) "MPGN") @@ -29336,7 +29114,6 @@ SubClassOf( (IgA deposition in the glomerulus) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:Eurenomics_ewuehl") "The presence of immunoglobulin A deposits in the glomerulus.") -AnnotationAssertion( "MSH:D005922") AnnotationAssertion( "SNOMEDCT_US:236407003") AnnotationAssertion( "SNOMEDCT_US:68779003") AnnotationAssertion( "UMLS:C0017661") @@ -29359,7 +29136,6 @@ SubClassOf( (Urethral obstruction) AnnotationAssertion(Annotation( ) "Obstruction of the flow of urine through the urethra.") -AnnotationAssertion( "MSH:D014524") AnnotationAssertion( "SNOMEDCT_US:95588004") AnnotationAssertion( "UMLS:C0041972") AnnotationAssertion( "HP:0000796") @@ -29369,7 +29145,6 @@ SubClassOf( (Oligozoospermia) AnnotationAssertion(Annotation( ) "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.") -AnnotationAssertion( "MSH:D009845") AnnotationAssertion( "UMLS:C0028960") AnnotationAssertion(Annotation( ) Annotation( ) "Low sperm count") AnnotationAssertion( "Oligospermia") @@ -29401,7 +29176,6 @@ SubClassOf( (Impotence) AnnotationAssertion(Annotation( ) "Inability to develop or maintain an erection of the penis.") -AnnotationAssertion( "MSH:D007172") AnnotationAssertion( "SNOMEDCT_US:397803000") AnnotationAssertion( "UMLS:C0242350") AnnotationAssertion(Annotation( ) "Difficulty getting a full erection") @@ -29436,7 +29210,6 @@ SubClassOf( (Enuresis) AnnotationAssertion(Annotation( ) "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.") -AnnotationAssertion( "MSH:D004775") AnnotationAssertion( "SNOMEDCT_US:8009008") AnnotationAssertion( "UMLS:C0014394") AnnotationAssertion( "HP:0000805") @@ -29511,7 +29284,6 @@ SubClassOf( ) "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.") AnnotationAssertion( "HP:0008679") -AnnotationAssertion( "MSH:D007006") AnnotationAssertion( "SNOMEDCT_US:370999003") AnnotationAssertion( "UMLS:C0948896") AnnotationAssertion( "Hypergonadotrophic hypogonadism") @@ -29552,7 +29324,6 @@ SubClassOf( (Abnormality of the endocrine system) AnnotationAssertion(Annotation( ) "An abnormality of the endocrine system.") -AnnotationAssertion( "MSH:D004700") AnnotationAssertion( "SNOMEDCT_US:362969004") AnnotationAssertion( "UMLS:C0014130") AnnotationAssertion( "UMLS:C4025823") @@ -29570,7 +29341,6 @@ AnnotationAssertion( "HP:0008217") AnnotationAssertion( "HP:0008234") AnnotationAssertion( "HP:0008260") -AnnotationAssertion( "MSH:D003920") AnnotationAssertion( "SNOMEDCT_US:73211009") AnnotationAssertion( "UMLS:C0011849") AnnotationAssertion( "HP:0000819") @@ -29581,7 +29351,6 @@ SubClassOf( (Abnormality of the thyroid gland) AnnotationAssertion(Annotation( ) "An abnormality of the thyroid gland.") -AnnotationAssertion( "MSH:D013959") AnnotationAssertion( "SNOMEDCT_US:14304000") AnnotationAssertion( "UMLS:C0040128") AnnotationAssertion(Annotation( ) "Abnormality of the thyroid gland") @@ -29597,7 +29366,6 @@ SubClassOf( ) "Deficiency of thyroid hormone.") AnnotationAssertion( "HP:0003222") AnnotationAssertion( "HP:0008203") -AnnotationAssertion( "MSH:D007037") AnnotationAssertion( "SNOMEDCT_US:40930008") AnnotationAssertion( "UMLS:C0020676") AnnotationAssertion( "Low T4") @@ -29612,7 +29380,6 @@ SubClassOf( ) "The presence of chronic increased pressure in the systemic arterial system.") AnnotationAssertion( "HP:0004949") AnnotationAssertion( "HP:0005126") -AnnotationAssertion( "MSH:D006973") AnnotationAssertion( "SNOMEDCT_US:24184005") AnnotationAssertion( "SNOMEDCT_US:38341003") AnnotationAssertion( "UMLS:C0020538") @@ -29632,7 +29399,6 @@ AnnotationAssertion(Annotation( "HP:0008859") AnnotationAssertion( "HP:0010466") AnnotationAssertion( "HP:0010467") -AnnotationAssertion( "MSH:D011628") AnnotationAssertion( "SNOMEDCT_US:123526007") AnnotationAssertion( "SNOMEDCT_US:400003000") AnnotationAssertion( "UMLS:C0034012") @@ -29677,7 +29443,6 @@ SubClassOf( (Precocious puberty) AnnotationAssertion(Annotation( ) "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.") -AnnotationAssertion( "MSH:D011629") AnnotationAssertion( "SNOMEDCT_US:123527003") AnnotationAssertion( "SNOMEDCT_US:400179000") AnnotationAssertion( "UMLS:C0034013") @@ -29691,7 +29456,6 @@ SubClassOf( (Abnormality of the parathyroid gland) AnnotationAssertion(Annotation( ) "An abnormality of the parathyroid gland.") -AnnotationAssertion( "MSH:D010279") AnnotationAssertion( "SNOMEDCT_US:73132005") AnnotationAssertion( "UMLS:C0030517") AnnotationAssertion( "UMLS:C4025822") @@ -29707,7 +29471,6 @@ SubClassOf( ) "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.") AnnotationAssertion( "HP:0000856") AnnotationAssertion( "HP:0008292") -AnnotationAssertion( "MSH:D007011") AnnotationAssertion( "SNOMEDCT_US:36976004") AnnotationAssertion( "UMLS:C0020626") AnnotationAssertion(Annotation( ) Annotation( ) "Decreased parathyroid hormone secretion") @@ -29757,7 +29520,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Abnormality of the adrenal glands) AnnotationAssertion(Annotation( ) "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.") -AnnotationAssertion( "MSH:D000307") AnnotationAssertion( "SNOMEDCT_US:30171000") AnnotationAssertion( "UMLS:C0001621") AnnotationAssertion( "UMLS:C4021794") @@ -29771,7 +29533,6 @@ SubClassOf( (Adrenal hypoplasia) AnnotationAssertion(Annotation( ) "Developmental hypoplasia of the adrenal glands.") -AnnotationAssertion( "MSH:C538429") AnnotationAssertion( "SNOMEDCT_US:237774001") AnnotationAssertion( "UMLS:C0342491") AnnotationAssertion( "UMLS:C1846223") @@ -29788,7 +29549,6 @@ SubClassOf( ) "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).") AnnotationAssertion( "HP:0008241") -AnnotationAssertion( "MSH:D006980") AnnotationAssertion( "SNOMEDCT_US:34486009") AnnotationAssertion( "UMLS:C0020550") AnnotationAssertion(Annotation( ) Annotation( "http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986") Annotation( ) "Overactive thyroid") @@ -29815,7 +29575,6 @@ SubClassOf( (Pituitary dwarfism) AnnotationAssertion(Annotation( ) "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.") -AnnotationAssertion( "MSH:D004393") AnnotationAssertion( "SNOMEDCT_US:367460001") AnnotationAssertion( "SNOMEDCT_US:7530009") AnnotationAssertion( "UMLS:C0013338") @@ -29827,7 +29586,6 @@ SubClassOf( ) "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.") AnnotationAssertion( "HP:0001921") -AnnotationAssertion( "MSH:D047808") AnnotationAssertion( "SNOMEDCT_US:237751000") AnnotationAssertion( "SNOMEDCT_US:267395000") AnnotationAssertion( "SNOMEDCT_US:271077003") @@ -29851,7 +29609,6 @@ SubClassOf( (Hyperinsulinemia) AnnotationAssertion(Annotation( ) "An increased concentration of insulin in the blood.") -AnnotationAssertion( "MSH:D006946") AnnotationAssertion( "SNOMEDCT_US:83469008") AnnotationAssertion( "UMLS:C0020459") AnnotationAssertion( "Elevated insulin level") @@ -29864,7 +29621,6 @@ SubClassOf( (Hyperparathyroidism) AnnotationAssertion(Annotation( ) "Excessive production of parathyroid hormone (PTH) by the parathyroid glands.") -AnnotationAssertion( "MSH:D006961") AnnotationAssertion( "SNOMEDCT_US:66999008") AnnotationAssertion( "UMLS:C0020502") AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood parathyroid hormone level") @@ -29877,8 +29633,6 @@ SubClassOf( ) Annotation( ) "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.") AnnotationAssertion( "HP:0008856") -AnnotationAssertion( "MSH:C531600") -AnnotationAssertion( "MSH:D000172") AnnotationAssertion( "SNOMEDCT_US:74107003") AnnotationAssertion( "UMLS:C0001206") AnnotationAssertion( "UMLS:C0235986") @@ -29897,7 +29651,6 @@ SubClassOf( ) Annotation( "PMID:11443143") "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.") AnnotationAssertion( "HP:0000865") AnnotationAssertion( "HP:0008218") -AnnotationAssertion( "MSH:D000309") AnnotationAssertion( "SNOMEDCT_US:111563005") AnnotationAssertion( "SNOMEDCT_US:237785004") AnnotationAssertion( "SNOMEDCT_US:386584007") @@ -29947,7 +29700,6 @@ SubClassOf( (Congenital hypothyroidism) AnnotationAssertion(Annotation( ) "A type of hypothyroidism with congenital onset.") -AnnotationAssertion( "MSH:D003409") AnnotationAssertion( "SNOMEDCT_US:190268003") AnnotationAssertion( "SNOMEDCT_US:217710005") AnnotationAssertion( "UMLS:C0010308") @@ -29960,7 +29712,6 @@ SubClassOf( (Pseudohypoparathyroidism) AnnotationAssertion(Annotation( ) "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.") -AnnotationAssertion( "MSH:D011547") AnnotationAssertion( "SNOMEDCT_US:58976002") AnnotationAssertion( "UMLS:C0033806") AnnotationAssertion( "HP:0000852") @@ -29970,7 +29721,6 @@ SubClassOf( (Goiter) AnnotationAssertion(Annotation( ) "An enlargement of the thyroid gland.") -AnnotationAssertion( "MSH:D006042") AnnotationAssertion( "SNOMEDCT_US:3716002") AnnotationAssertion( "UMLS:C0018021") AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged thyroid gland in neck") @@ -29985,7 +29735,6 @@ SubClassOf( (Thyroid adenoma) AnnotationAssertion(Annotation( ) "The presence of a adenoma of the thyroid gland.") -AnnotationAssertion( "MSH:D013964") AnnotationAssertion( "NCIT:C2855") AnnotationAssertion( "SNOMEDCT_US:255033000") AnnotationAssertion( "SNOMEDCT_US:255034006") @@ -29997,7 +29746,6 @@ SubClassOf( (Insulin resistance) AnnotationAssertion(Annotation( ) "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.") -AnnotationAssertion( "MSH:D007333") AnnotationAssertion( "SNOMEDCT_US:48606007") AnnotationAssertion( "UMLS:C0021655") AnnotationAssertion(Annotation( ) Annotation( ) "Body fails to respond to insulin") @@ -30033,7 +29781,6 @@ SubClassOf( ) Annotation( ) "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.") AnnotationAssertion( "HP:0004318") AnnotationAssertion( "HP:0005975") -AnnotationAssertion( "MSH:D006929") AnnotationAssertion( "SNOMEDCT_US:88213004") AnnotationAssertion( "UMLS:C0020428") AnnotationAssertion(Annotation( ) "Elevated plasma aldosterone") @@ -30060,7 +29807,6 @@ SubClassOf( ) "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.") AnnotationAssertion( "HP:0008210") -AnnotationAssertion( "MSH:D020790") AnnotationAssertion( "SNOMEDCT_US:45369008") AnnotationAssertion( "UMLS:C0687720") AnnotationAssertion( "Neurohypophyseal diabetes insipidus") @@ -30090,7 +29836,6 @@ SubClassOf( (Secondary hyperparathyroidism) AnnotationAssertion(Annotation( ) Annotation( "PMID:19836494") "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.") -AnnotationAssertion( "MSH:D006962") AnnotationAssertion( "SNOMEDCT_US:91478007") AnnotationAssertion( "UMLS:C0020503") AnnotationAssertion( "HP:0000867") @@ -30119,7 +29864,6 @@ SubClassOf( (Increased circulating prolactin concentration) AnnotationAssertion(Annotation( ) Annotation( ) "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.") -AnnotationAssertion( "MSH:D006966") AnnotationAssertion( "SNOMEDCT_US:237662005") AnnotationAssertion( "UMLS:C0020514") AnnotationAssertion( "Hyperprolactinaemia") @@ -30133,7 +29877,6 @@ SubClassOf( (Panhypopituitarism) AnnotationAssertion(Annotation( ) Annotation( "PMID:12466332") "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).") -AnnotationAssertion( "MSH:C580003") AnnotationAssertion( "SNOMEDCT_US:32390006") AnnotationAssertion( "UMLS:C0242343") AnnotationAssertion( "HP:0000871") @@ -30144,7 +29887,6 @@ SubClassOf( (Hashimoto thyroiditis) AnnotationAssertion(Annotation( ) "A chronic, autoimmune type of thyroiditis associated with hypothyroidism.") -AnnotationAssertion( "MSH:D050031") AnnotationAssertion( "SNOMEDCT_US:21983002") AnnotationAssertion( "UMLS:C0677607") AnnotationAssertion( "Chronic lymphocytic thyroiditis") @@ -30157,7 +29899,6 @@ SubClassOf( (Diabetes insipidus) AnnotationAssertion(Annotation( ) "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).") -AnnotationAssertion( "MSH:D003919") AnnotationAssertion( "SNOMEDCT_US:15771004") AnnotationAssertion( "UMLS:C0011848") AnnotationAssertion( "HP:0000873") @@ -30175,7 +29916,6 @@ SubClassOf( (Oligomenorrhea) AnnotationAssertion(Annotation( ) Annotation( "PMID:22594864") "Infrequent menses (less than 6 per year or more than 35 days between cycles).") -AnnotationAssertion( "MSH:D009839") AnnotationAssertion( "SNOMEDCT_US:52073004") AnnotationAssertion( "UMLS:C0028949") AnnotationAssertion(Annotation( ) Annotation( ) "Light or infrequent menstrual periods") @@ -30335,7 +30075,6 @@ SubClassOf( (Cervical ribs) -AnnotationAssertion( "MSH:D057070") AnnotationAssertion( "SNOMEDCT_US:72535009") AnnotationAssertion( "UMLS:C0158779") AnnotationAssertion( "HP:0000891") @@ -30495,7 +30234,6 @@ SubClassOf( ) "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).") AnnotationAssertion( "HP:0006621") AnnotationAssertion(Annotation(rdfs:label "Congenital elevation of scapula") "MEDDRA:10010455") -AnnotationAssertion( "MSH:C535802") AnnotationAssertion( "SNOMEDCT_US:79120002") AnnotationAssertion( "UMLS:C0152438") AnnotationAssertion( "Congenital, upward displacement of the scapula") @@ -30748,7 +30486,6 @@ SubClassOf( (Chondrocalcinosis) AnnotationAssertion(Annotation( ) "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .") -AnnotationAssertion( "MSH:D002805") AnnotationAssertion( "SNOMEDCT_US:201637001") AnnotationAssertion( "SNOMEDCT_US:239832006") AnnotationAssertion( "SNOMEDCT_US:239838005") @@ -30779,7 +30516,6 @@ AnnotationAssertion(Annotation( "HP:0002768") AnnotationAssertion( "HP:0002799") AnnotationAssertion( "HP:0002800") -AnnotationAssertion( "MSH:D001851") AnnotationAssertion( "SNOMEDCT_US:312894000") AnnotationAssertion( "SNOMEDCT_US:78441005") AnnotationAssertion( "UMLS:C0029453") @@ -30796,7 +30532,6 @@ SubClassOf( ) Annotation( "PMID:28293453") "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).") AnnotationAssertion( "HP:0002774") -AnnotationAssertion( "MSH:D010024") AnnotationAssertion( "SNOMEDCT_US:64859006") AnnotationAssertion( "UMLS:C0029456") AnnotationAssertion( "HP:0000939") @@ -30834,7 +30569,6 @@ SubClassOf( (Dysostosis multiplex) AnnotationAssertion( "HP:0002760") -AnnotationAssertion( "MSH:D008059") AnnotationAssertion( "SNOMEDCT_US:254069004") AnnotationAssertion( "SNOMEDCT_US:65327002") AnnotationAssertion( "UMLS:C0086795") @@ -30892,8 +30626,6 @@ AnnotationAssertion( "HP:0006736") AnnotationAssertion( "HP:0007415") AnnotationAssertion( "HP:0007580") -AnnotationAssertion( "MSH:D012868") -AnnotationAssertion( "MSH:D012871") AnnotationAssertion( "SNOMEDCT_US:199879009") AnnotationAssertion( "SNOMEDCT_US:95320005") AnnotationAssertion( "UMLS:C0037268") @@ -30911,7 +30643,6 @@ SubClassOf( (Jaundice) AnnotationAssertion(Annotation( ) "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.") -AnnotationAssertion( "MSH:D007565") AnnotationAssertion( "SNOMEDCT_US:18165001") AnnotationAssertion( "UMLS:C0022346") AnnotationAssertion(Annotation( ) "Icterus") @@ -30927,7 +30658,6 @@ SubClassOf( ) "A darkening of the skin related to an increase in melanin production and deposition.") AnnotationAssertion( "HP:0007527") -AnnotationAssertion( "MSH:D017495") AnnotationAssertion( "SNOMEDCT_US:4830009") AnnotationAssertion( "SNOMEDCT_US:49765009") AnnotationAssertion( "UMLS:C0162834") @@ -30970,7 +30700,6 @@ AnnotationAssertion(Annotation( "HP:0007498") AnnotationAssertion( "HP:0007518") AnnotationAssertion( "HP:0007591") -AnnotationAssertion( "MSH:D000052") AnnotationAssertion( "SNOMEDCT_US:402599005") AnnotationAssertion( "SNOMEDCT_US:72129000") AnnotationAssertion( "UMLS:C0000889") @@ -30989,7 +30718,6 @@ AnnotationAssertion( "HP:0007454") AnnotationAssertion(Annotation( ) Annotation( ) "Birthmark") AnnotationAssertion(Annotation( ) "Flat light-brown mark on skin") -AnnotationAssertion( "MSH:D019080") AnnotationAssertion( "SNOMEDCT_US:201281002") AnnotationAssertion( "SNOMEDCT_US:51089004") AnnotationAssertion( "UMLS:C0221263") @@ -31035,7 +30763,6 @@ SubClassOf( (Cyanosis) AnnotationAssertion(Annotation( "PMID:25658213") "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.") -AnnotationAssertion( "MSH:D003490") AnnotationAssertion( "SNOMEDCT_US:119419001") AnnotationAssertion( "SNOMEDCT_US:3415004") AnnotationAssertion( "UMLS:C0010520") @@ -31078,7 +30805,6 @@ SubClassOf( ) Annotation( "PMID:32412211") "Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.") AnnotationAssertion( "HP:0000976") AnnotationAssertion( "HP:0001481") -AnnotationAssertion( "MSH:D004485") AnnotationAssertion( "SNOMEDCT_US:281104002") AnnotationAssertion( "SNOMEDCT_US:43116000") AnnotationAssertion( "UMLS:C0013595") @@ -31105,7 +30831,6 @@ AnnotationAssertion(Annotation( "HP:0007551") AnnotationAssertion( "HP:0007571") AnnotationAssertion(Annotation(rdfs:label "Hypohidrosis") "MEDDRA:10021013") -AnnotationAssertion( "MSH:D007007") AnnotationAssertion( "SNOMEDCT_US:45004005") AnnotationAssertion( "UMLS:C0020620") AnnotationAssertion(Annotation( ) "Decreased ability to sweat") @@ -31122,7 +30847,6 @@ SubClassOf( ) Annotation( "PMID:29493956") "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.") AnnotationAssertion(Annotation(rdfs:label "Petechiae") "MEDDRA:10034754") -AnnotationAssertion( "MSH:D011693") AnnotationAssertion( "SNOMEDCT_US:271813007") AnnotationAssertion( "SNOMEDCT_US:50091001") AnnotationAssertion( "UMLS:C0031256") @@ -31136,7 +30860,6 @@ SubClassOf( ) "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.") AnnotationAssertion( "HP:0007436") AnnotationAssertion( "HP:0007615") -AnnotationAssertion( "MSH:D004476") AnnotationAssertion( "SNOMEDCT_US:254154003") AnnotationAssertion( "SNOMEDCT_US:8654005") AnnotationAssertion( "UMLS:C0013575") @@ -31150,7 +30873,6 @@ SubClassOf( ) "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.") AnnotationAssertion( "HP:0000990") -AnnotationAssertion( "MSH:D004487") AnnotationAssertion( "SNOMEDCT_US:20741006") AnnotationAssertion( "SNOMEDCT_US:267038008") AnnotationAssertion( "SNOMEDCT_US:423666004") @@ -31171,7 +30893,6 @@ SubClassOf( ) "Inability to sweat.") AnnotationAssertion(Annotation(rdfs:label "Anhidrosis") "MEDDRA:10002512") -AnnotationAssertion( "MSH:D007007") AnnotationAssertion( "SNOMEDCT_US:14662005") AnnotationAssertion( "SNOMEDCT_US:39659002") AnnotationAssertion( "UMLS:C0003028") @@ -31187,7 +30908,6 @@ SubClassOf( (Abnormal sweat gland morphology) AnnotationAssertion(Annotation( ) "Any structural abnormality of the sweat gland.") -AnnotationAssertion( "MSH:D013543") AnnotationAssertion( "SNOMEDCT_US:88232005") AnnotationAssertion( "UMLS:C0038986") AnnotationAssertion( "UMLS:C0262643") @@ -31204,7 +30924,6 @@ SubClassOf( ) "Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.") AnnotationAssertion( "HP:0007548") -AnnotationAssertion( "MSH:D007645") AnnotationAssertion( "SNOMEDCT_US:706885006") AnnotationAssertion( "UMLS:C0022596") AnnotationAssertion( "Hyperkeratosis of palms and soles") @@ -31225,8 +30944,6 @@ SubClassOf( ) "Wrinkled, redundant, inelastic and sagging skin.") AnnotationAssertion(Annotation( ) Annotation( ) "Hanging skin") -AnnotationAssertion( "MSH:C531660") -AnnotationAssertion( "MSH:D003483") AnnotationAssertion( "SNOMEDCT_US:58588007") AnnotationAssertion( "UMLS:C0010495") AnnotationAssertion( "UMLS:C2930812") @@ -31274,8 +30991,6 @@ AnnotationAssertion( "HP:0001064") AnnotationAssertion( "HP:0007424") AnnotationAssertion(Annotation(rdfs:label "Hyperhidrosis") "MEDDRA:10020642") -AnnotationAssertion( "MSH:D006945") -AnnotationAssertion( "MSH:D013546") AnnotationAssertion( "SNOMEDCT_US:161857006") AnnotationAssertion( "SNOMEDCT_US:312230002") AnnotationAssertion( "SNOMEDCT_US:364538006") @@ -31325,7 +31040,6 @@ AnnotationAssertion(Annotation( "HP:0000959") AnnotationAssertion( "HP:0007433") AnnotationAssertion( "HP:0007472") -AnnotationAssertion( "MSH:D004438") AnnotationAssertion( "SNOMEDCT_US:302227002") AnnotationAssertion( "SNOMEDCT_US:424131007") AnnotationAssertion( "SNOMEDCT_US:425075004") @@ -31347,7 +31061,6 @@ SubClassOf( ) Annotation( "PMID:11515831") "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Blood spots") -AnnotationAssertion( "MSH:D011693") AnnotationAssertion( "SNOMEDCT_US:12393003") AnnotationAssertion( "SNOMEDCT_US:387778001") AnnotationAssertion( "SNOMEDCT_US:423902002") @@ -31362,7 +31075,6 @@ SubClassOf( (Pallor) AnnotationAssertion(Annotation( ) "Abnormally pale skin.") -AnnotationAssertion( "MSH:D010167") AnnotationAssertion( "SNOMEDCT_US:398979000") AnnotationAssertion( "UMLS:C0030232") AnnotationAssertion(Annotation( ) "Paleness") @@ -31375,7 +31087,6 @@ SubClassOf( (Palmoplantar keratoderma) AnnotationAssertion(Annotation( ) "Abnormal thickening of the skin of the palms of the hands and the soles of the feet.") -AnnotationAssertion( "MSH:D007645") AnnotationAssertion( "SNOMEDCT_US:706885006") AnnotationAssertion( "UMLS:C0022596") AnnotationAssertion( "Palmar and plantar keratoderma") @@ -31401,7 +31112,6 @@ SubClassOf( ) "A red eruption of the skin.") AnnotationAssertion(Annotation( ) "Rash") AnnotationAssertion(Annotation(rdfs:label "Rash") "MEDDRA:10037844") -AnnotationAssertion( "MSH:D005076") AnnotationAssertion( "SNOMEDCT_US:112625008") AnnotationAssertion( "SNOMEDCT_US:271807003") AnnotationAssertion( "UMLS:C0015230") @@ -31414,7 +31124,6 @@ SubClassOf( (Pruritus) AnnotationAssertion(Annotation( ) "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.") -AnnotationAssertion( "MSH:D011537") AnnotationAssertion( "SNOMEDCT_US:279333002") AnnotationAssertion( "SNOMEDCT_US:418290006") AnnotationAssertion( "SNOMEDCT_US:418363000") @@ -31431,7 +31140,6 @@ SubClassOf( (Xanthomatosis) AnnotationAssertion(Annotation( ) "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.") -AnnotationAssertion( "MSH:D014973") AnnotationAssertion( "SNOMEDCT_US:63103006") AnnotationAssertion( "UMLS:C0043325") AnnotationAssertion( "Xanthomata") @@ -31446,7 +31154,6 @@ AnnotationAssertion(Annotation( "HP:0005594") AnnotationAssertion( "HP:0006831") AnnotationAssertion( "HP:0007538") -AnnotationAssertion( "MSH:D010787") AnnotationAssertion( "SNOMEDCT_US:90128006") AnnotationAssertion( "UMLS:C0349506") AnnotationAssertion(Annotation( ) "Photosensitive skin") @@ -31474,7 +31181,6 @@ SubClassOf( ) "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.") AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous mole") -AnnotationAssertion( "MSH:D009508") AnnotationAssertion( "SNOMEDCT_US:21119008") AnnotationAssertion( "SNOMEDCT_US:400096001") AnnotationAssertion( "UMLS:C0027962") @@ -31515,7 +31221,6 @@ SubClassOf( ) "Hypertrichosis is increased hair growth that is abnormal in quantity or location.") AnnotationAssertion(Annotation( ) Annotation( ) "Excessive hair growth") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Increased hair growth on body") -AnnotationAssertion( "MSH:D006983") AnnotationAssertion( "SNOMEDCT_US:271607001") AnnotationAssertion( "SNOMEDCT_US:29966009") AnnotationAssertion( "UMLS:C0020555") @@ -31527,7 +31232,6 @@ SubClassOf( (Pyoderma) AnnotationAssertion(Annotation( ) "Any manifestation of a skin disease associated with the production of pus.") -AnnotationAssertion( "MSH:D011711") AnnotationAssertion( "SNOMEDCT_US:70759006") AnnotationAssertion( "UMLS:C0034212") AnnotationAssertion(Annotation( ) Annotation( ) "Pus-filled lesion") @@ -31591,7 +31295,6 @@ SubClassOf( ) "Localized fluid retention and tissue swelling caused by a compromised lymphatic system.") AnnotationAssertion( "HP:0003605") -AnnotationAssertion( "MSH:D008209") AnnotationAssertion( "SNOMEDCT_US:234097001") AnnotationAssertion( "SNOMEDCT_US:30213001") AnnotationAssertion( "UMLS:C0024236") @@ -31624,7 +31327,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Hirsutism) AnnotationAssertion(Annotation( ) "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).") -AnnotationAssertion( "MSH:D006628") AnnotationAssertion( "SNOMEDCT_US:399939002") AnnotationAssertion( "UMLS:C0019572") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Excessive hairiness") @@ -31644,7 +31346,6 @@ SubClassOf( ) "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.") AnnotationAssertion( "HP:0001079") -AnnotationAssertion( "MSH:D013684") AnnotationAssertion( "SNOMEDCT_US:112641009") AnnotationAssertion( "SNOMEDCT_US:247479008") AnnotationAssertion( "UMLS:C0039446") @@ -31662,7 +31363,6 @@ AnnotationAssertion(Annotation( "HP:0005589") AnnotationAssertion( "HP:0007604") AnnotationAssertion( "HP:0007622") -AnnotationAssertion( "MSH:D017496") AnnotationAssertion( "SNOMEDCT_US:18655006") AnnotationAssertion( "SNOMEDCT_US:201284005") AnnotationAssertion( "SNOMEDCT_US:23006000") @@ -31687,7 +31387,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Multiple lipomas) AnnotationAssertion(Annotation( ) "The presence of multiple lipomas (a type of benign tissue made of fatty tissue).") -AnnotationAssertion( "MSH:D008067") AnnotationAssertion( "NCIT:C3192") AnnotationAssertion( "SNOMEDCT_US:404062002") AnnotationAssertion( "SNOMEDCT_US:46720004") @@ -31715,7 +31414,6 @@ SubClassOf( (Angiokeratoma) AnnotationAssertion(Annotation( ) Annotation( "PMID:8993949") "Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.") -AnnotationAssertion( "MSH:D000794") AnnotationAssertion( "SNOMEDCT_US:26810009") AnnotationAssertion( "UMLS:C0002985") AnnotationAssertion( "Angiokeratomas") @@ -31760,7 +31458,6 @@ SubClassOf( ) "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.") AnnotationAssertion(Annotation( ) Annotation( ) "Red scaly skin caused by inflammatory skin disease") -AnnotationAssertion( "MSH:D003873") AnnotationAssertion( "SNOMEDCT_US:200948000") AnnotationAssertion( "SNOMEDCT_US:396349005") AnnotationAssertion( "SNOMEDCT_US:396350005") @@ -31779,7 +31476,6 @@ SubClassOf( (Albinism) AnnotationAssertion(Annotation( ) "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).") -AnnotationAssertion( "MSH:D000417") AnnotationAssertion( "SNOMEDCT_US:15890002") AnnotationAssertion( "SNOMEDCT_US:18064000") AnnotationAssertion( "UMLS:C0001916") @@ -31802,7 +31498,6 @@ SubClassOf( ) "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.") AnnotationAssertion(Annotation(rdfs:label "Urticaria") "MEDDRA:10046735") -AnnotationAssertion( "MSH:D014581") AnnotationAssertion( "SNOMEDCT_US:126485001") AnnotationAssertion( "SNOMEDCT_US:247472004") AnnotationAssertion( "SNOMEDCT_US:64305001") @@ -31834,7 +31529,6 @@ SubClassOf( ) "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).") AnnotationAssertion( "HP:0007444") -AnnotationAssertion( "MSH:D006391") AnnotationAssertion( "NCIT:C3085") AnnotationAssertion( "SNOMEDCT_US:2099007") AnnotationAssertion( "SNOMEDCT_US:253053003") @@ -31925,7 +31619,6 @@ SubClassOf( (Parakeratosis) AnnotationAssertion(Annotation( ) "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.") -AnnotationAssertion( "MSH:D010241") AnnotationAssertion( "SNOMEDCT_US:200766001") AnnotationAssertion( "SNOMEDCT_US:65068000") AnnotationAssertion( "UMLS:C0030436") @@ -31961,8 +31654,6 @@ SubClassOf( ) "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.") AnnotationAssertion( "HP:0001068") -AnnotationAssertion( "MSH:D001821") -AnnotationAssertion( "MSH:D012393") AnnotationAssertion( "SNOMEDCT_US:20255002") AnnotationAssertion( "SNOMEDCT_US:271811009") AnnotationAssertion( "SNOMEDCT_US:398909004") @@ -32000,7 +31691,6 @@ SubClassOf( (Vitiligo) -AnnotationAssertion( "MSH:D014820") AnnotationAssertion( "SNOMEDCT_US:56727007") AnnotationAssertion( "UMLS:C0042900") AnnotationAssertion(Annotation( ) Annotation( ) "Blotchy loss of skin color") @@ -32026,7 +31716,6 @@ SubClassOf( ) Annotation( "PMID:27904186") "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.") AnnotationAssertion( "HP:0007533") AnnotationAssertion( "HP:0007564") -AnnotationAssertion( "MSH:D003876") AnnotationAssertion( "SNOMEDCT_US:200775004") AnnotationAssertion( "SNOMEDCT_US:24079001") AnnotationAssertion( "UMLS:C0011615") @@ -32048,7 +31737,6 @@ SubClassOf( ) "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.") AnnotationAssertion(Annotation(rdfs:label "Haemangioma cavernous") "MEDDRA:10055899") -AnnotationAssertion( "MSH:D006392") AnnotationAssertion( "NCIT:C3086") AnnotationAssertion( "SNOMEDCT_US:33377007") AnnotationAssertion( "SNOMEDCT_US:416824008") @@ -32082,7 +31770,6 @@ SubClassOf( ) "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.") AnnotationAssertion( "HP:0007562") -AnnotationAssertion( "MSH:D012628") AnnotationAssertion( "SNOMEDCT_US:50563003") AnnotationAssertion( "SNOMEDCT_US:86708008") AnnotationAssertion( "UMLS:C0036508") @@ -32099,7 +31786,6 @@ SubClassOf( ) Annotation( "PMID:22483320") "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.") AnnotationAssertion(Annotation(rdfs:label "Naevus flammeus") "MEDDRA:10067193") -AnnotationAssertion( "MSH:D019339") AnnotationAssertion( "SNOMEDCT_US:254211001") AnnotationAssertion( "SNOMEDCT_US:416377005") AnnotationAssertion( "UMLS:C0235752") @@ -32135,8 +31821,6 @@ SubClassOf( ) "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.") AnnotationAssertion(Annotation(rdfs:label "Erysipelas") "MEDDRA:10015145") -AnnotationAssertion( "MSH:D004881") -AnnotationAssertion( "MSH:D004886") AnnotationAssertion( "SNOMEDCT_US:44653001") AnnotationAssertion( "SNOMEDCT_US:51510002") AnnotationAssertion( "UMLS:C0014714") @@ -32167,7 +31851,6 @@ SubClassOf( ) "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/aplasia_cutis_congenita") "Congenital scars") AnnotationAssertion(Annotation(rdfs:label "Aplasia cutis congenita") "MEDDRA:10002963") -AnnotationAssertion( "MSH:D004476") AnnotationAssertion( "SNOMEDCT_US:254237003") AnnotationAssertion( "SNOMEDCT_US:35484002") AnnotationAssertion( "SNOMEDCT_US:74223008") @@ -32194,7 +31877,6 @@ SubClassOf( (Pterygium) AnnotationAssertion(Annotation( ) "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.") -AnnotationAssertion( "MSH:D011625") AnnotationAssertion( "SNOMEDCT_US:77489003") AnnotationAssertion( "UMLS:C0033999") AnnotationAssertion(Annotation( ) "Pterygia") @@ -32230,7 +31912,6 @@ SubClassOf( (Atypical nevus) AnnotationAssertion(Annotation( ) "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.") -AnnotationAssertion( "MSH:D004416") AnnotationAssertion( "SNOMEDCT_US:254818000") AnnotationAssertion( "SNOMEDCT_US:61814002") AnnotationAssertion( "UMLS:C0205748") @@ -32260,7 +31941,6 @@ AnnotationAssertion( "HP:0001066") AnnotationAssertion( "HP:0100680") AnnotationAssertion(Annotation(rdfs:label "Skin striae") "MEDDRA:10040925") -AnnotationAssertion( "MSH:D057896") AnnotationAssertion( "SNOMEDCT_US:201066002") AnnotationAssertion( "SNOMEDCT_US:201067006") AnnotationAssertion( "SNOMEDCT_US:47212006") @@ -32283,7 +31963,6 @@ AnnotationAssertion( "HP:0007386") AnnotationAssertion( "HP:0007612") AnnotationAssertion( "HP:0009595") -AnnotationAssertion( "MSH:D017253") AnnotationAssertion( "NCIT:C3272") AnnotationAssertion( "SNOMEDCT_US:19133005") AnnotationAssertion( "SNOMEDCT_US:81669005") @@ -32323,7 +32002,6 @@ SubClassOf( (Angiokeratoma corporis diffusum) AnnotationAssertion( "Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.") -AnnotationAssertion( "MSH:D000795") AnnotationAssertion( "SNOMEDCT_US:124464003") AnnotationAssertion( "SNOMEDCT_US:16652001") AnnotationAssertion( "UMLS:C0002986") @@ -32397,7 +32075,6 @@ SubClassOf( (Biliary tract abnormality) AnnotationAssertion(Annotation( ) "An abnormality of the biliary tree.") -AnnotationAssertion( "MSH:D001660") AnnotationAssertion( "SNOMEDCT_US:105997008") AnnotationAssertion( "UMLS:C0005424") AnnotationAssertion( "UMLS:C0549613") @@ -32410,7 +32087,6 @@ SubClassOf( (Cholelithiasis) AnnotationAssertion(Annotation( ) "Hard, pebble-like deposits that form within the gallbladder.") -AnnotationAssertion( "MSH:D002769") AnnotationAssertion( "SNOMEDCT_US:266474003") AnnotationAssertion( "UMLS:C0008350") AnnotationAssertion(Annotation( ) "Gallstones") @@ -32422,7 +32098,6 @@ SubClassOf( (Cholecystitis) AnnotationAssertion(Annotation( ) "The presence of inflammatory changes in the gallbladder.") -AnnotationAssertion( "MSH:D002764") AnnotationAssertion( "SNOMEDCT_US:76581006") AnnotationAssertion( "UMLS:C0008325") AnnotationAssertion(Annotation( ) Annotation( ) "Gallbladder inflammation") @@ -32437,8 +32112,6 @@ AnnotationAssertion( "HP:0007637") AnnotationAssertion( "HP:0007882") AnnotationAssertion( "HP:0008016") -AnnotationAssertion( "MSH:D004479") -AnnotationAssertion( "MSH:D007906") AnnotationAssertion( "SNOMEDCT_US:74969002") AnnotationAssertion( "UMLS:C0013581") AnnotationAssertion( "UMLS:C0023309") @@ -32454,7 +32127,6 @@ SubClassOf( ) "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.") AnnotationAssertion( "HP:0100741") -AnnotationAssertion( "MSH:D001112") AnnotationAssertion( "SNOMEDCT_US:111522004") AnnotationAssertion( "SNOMEDCT_US:231924000") AnnotationAssertion( "SNOMEDCT_US:231925004") @@ -32475,7 +32147,6 @@ SubClassOf( ) "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.") AnnotationAssertion( "HP:0001130") -AnnotationAssertion( "MSH:D010211") AnnotationAssertion( "SNOMEDCT_US:248487006") AnnotationAssertion( "SNOMEDCT_US:423341008") AnnotationAssertion( "SNOMEDCT_US:73221001") @@ -32490,7 +32161,6 @@ SubClassOf( (Developmental glaucoma) AnnotationAssertion( "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.") -AnnotationAssertion( "MSH:D006871") AnnotationAssertion( "SNOMEDCT_US:204113001") AnnotationAssertion( "SNOMEDCT_US:413728006") AnnotationAssertion( "UMLS:C0020302") @@ -32552,7 +32222,6 @@ SubClassOf( "PMID:19125427") "No identifiable superior and/or inferior lacrimal punctum.") AnnotationAssertion( "HP:0007977") -AnnotationAssertion( "MSH:C566703") AnnotationAssertion( "SNOMEDCT_US:204208005") AnnotationAssertion( "SNOMEDCT_US:253217007") AnnotationAssertion( "UMLS:C0344509") @@ -32583,7 +32252,6 @@ SubClassOf( (Iridocyclitis) AnnotationAssertion(Annotation( ) "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.") -AnnotationAssertion( "MSH:D015863") AnnotationAssertion( "SNOMEDCT_US:77971008") AnnotationAssertion( "UMLS:C0022073") AnnotationAssertion( "HP:0001094") @@ -32592,7 +32260,6 @@ SubClassOf( (Hypertensive retinopathy) -AnnotationAssertion( "MSH:D058437") AnnotationAssertion( "SNOMEDCT_US:6962006") AnnotationAssertion( "UMLS:C0152132") AnnotationAssertion( "HP:0001095") @@ -32603,7 +32270,6 @@ SubClassOf( (Keratoconjunctivitis) AnnotationAssertion(Annotation( ) "Inflammation of the cornea and conjunctiva.") -AnnotationAssertion( "MSH:D007637") AnnotationAssertion( "SNOMEDCT_US:88151007") AnnotationAssertion( "UMLS:C0022573") AnnotationAssertion( "HP:0001096") @@ -32615,10 +32281,6 @@ SubClassOf( (Keratoconjunctivitis sicca) AnnotationAssertion(Annotation( ) "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.") -AnnotationAssertion( "MSH:C531719") -AnnotationAssertion( "MSH:D007638") -AnnotationAssertion( "MSH:D014985") -AnnotationAssertion( "MSH:D015352") AnnotationAssertion( "SNOMEDCT_US:302896008") AnnotationAssertion( "SNOMEDCT_US:363677007") AnnotationAssertion( "SNOMEDCT_US:46152009") @@ -32656,7 +32318,6 @@ SubClassOf( (Heterochromia iridis) AnnotationAssertion(Annotation( ) "Heterochromia iridis is a difference in the color of the iris in the two eyes.") -AnnotationAssertion( "MSH:C538115") AnnotationAssertion( "SNOMEDCT_US:247033008") AnnotationAssertion( "UMLS:C0423318") AnnotationAssertion(Annotation( ) Annotation( ) "Different colored eyes") @@ -32670,7 +32331,6 @@ SubClassOf( (Iritis) AnnotationAssertion(Annotation( ) "Inflammation of the iris.") -AnnotationAssertion( "MSH:D007500") AnnotationAssertion( "SNOMEDCT_US:65074000") AnnotationAssertion( "UMLS:C0022081") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of iris") @@ -32682,7 +32342,6 @@ SubClassOf( (Angioid streaks of the fundus) AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "PMID:30844178") "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.") -AnnotationAssertion( "MSH:D000793") AnnotationAssertion( "UMLS:C0002982") AnnotationAssertion( "Angioid streaks") AnnotationAssertion( "Angioid streaks of the retina") @@ -32722,7 +32381,6 @@ SubClassOf( (Retinal atrophy) AnnotationAssertion(Annotation( ) "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.") -AnnotationAssertion( "MSH:D012162") AnnotationAssertion( "SNOMEDCT_US:405722004") AnnotationAssertion( "SNOMEDCT_US:95695004") AnnotationAssertion( "UMLS:C0035304") @@ -32754,7 +32412,6 @@ SubClassOf( ) "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.") AnnotationAssertion( "HP:0007745") AnnotationAssertion( "HP:0007837") -AnnotationAssertion( "MSH:D016117") AnnotationAssertion( "SNOMEDCT_US:26399002") AnnotationAssertion( "UMLS:C0078917") AnnotationAssertion(Annotation( ) Annotation( ) "Absent pigmentation in the eye") @@ -32770,7 +32427,6 @@ SubClassOf( ) "Degeneration of retinal ganglion cells and their axons.") AnnotationAssertion( "HP:0001086") -AnnotationAssertion( "MSH:D029242") AnnotationAssertion( "SNOMEDCT_US:58610003") AnnotationAssertion( "UMLS:C0917796") AnnotationAssertion( "Leber optic atrophy features") @@ -32789,7 +32445,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Xanthelasma) AnnotationAssertion(Annotation( ) "The presence of xanthomata in the skin of the eyelid.") -AnnotationAssertion( "MSH:D014973") AnnotationAssertion( "SNOMEDCT_US:63103006") AnnotationAssertion( "SNOMEDCT_US:6400008") AnnotationAssertion( "SNOMEDCT_US:75594004") @@ -32822,7 +32477,6 @@ SubClassOf( (Macular coloboma) AnnotationAssertion(Annotation( ) Annotation( "PMID:15069441") "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.") -AnnotationAssertion( "MSH:C535968") AnnotationAssertion( "UMLS:C1852767") AnnotationAssertion( "Coloboma of the macula") AnnotationAssertion( "HP:0001116") @@ -32918,7 +32572,6 @@ SubClassOf( (Trichiasis) AnnotationAssertion(Annotation( ) "Inversion and rubbing of the eyelashes against the globe of the eye.") -AnnotationAssertion( "MSH:D058457") AnnotationAssertion( "SNOMEDCT_US:60332004") AnnotationAssertion( "UMLS:C0221259") AnnotationAssertion(Annotation( ) Annotation( ) "Ingrown eyelashes") @@ -32954,7 +32607,6 @@ SubClassOf( (Lens subluxation) AnnotationAssertion(Annotation( ) "Partial dislocation of the lens of the eye.") -AnnotationAssertion( "MSH:D007906") AnnotationAssertion( "SNOMEDCT_US:65814009") AnnotationAssertion( "UMLS:C0023316") AnnotationAssertion(Annotation( ) Annotation( ) "Partially dislocated lens") @@ -32985,7 +32637,6 @@ SubClassOf( (Anterior polar cataract) AnnotationAssertion(Annotation( ) "A polar cataract that affects the anterior pole of the lens.") -AnnotationAssertion( "MSH:C538282") AnnotationAssertion( "UMLS:C1855179") AnnotationAssertion( "Polar cataract, anterior") AnnotationAssertion( "HP:0001134") @@ -33037,7 +32688,6 @@ SubClassOf( (Choroideremia) -AnnotationAssertion( "MSH:D015794") AnnotationAssertion( "SNOMEDCT_US:75241009") AnnotationAssertion( "UMLS:C0008525") AnnotationAssertion( "HP:0001139") @@ -33132,7 +32782,6 @@ SubClassOf( (Lattice corneal dystrophy) AnnotationAssertion(Annotation( ) "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.") -AnnotationAssertion( "MSH:D028227") AnnotationAssertion( "SNOMEDCT_US:1192004") AnnotationAssertion( "SNOMEDCT_US:361199007") AnnotationAssertion( "UMLS:C0155127") @@ -33185,7 +32834,6 @@ SubClassOf( ) "An abnormality affecting one or both hands.") AnnotationAssertion( "HP:0005858") -AnnotationAssertion( "MSH:D006226") AnnotationAssertion( "SNOMEDCT_US:299033004") AnnotationAssertion( "UMLS:C0018564") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal hands") @@ -33209,7 +32857,6 @@ AnnotationAssertion( "HP:0006017") AnnotationAssertion( "HP:0006128") AnnotationAssertion( "HP:0100667") -AnnotationAssertion( "MSH:D059327") AnnotationAssertion( "SNOMEDCT_US:43476002") AnnotationAssertion( "UMLS:C0221357") AnnotationAssertion( "Brachydactyly syndrome") @@ -33224,7 +32871,6 @@ AnnotationAssertion(Annotation( "HP:0001206") AnnotationAssertion( "HP:0001236") AnnotationAssertion( "Fyler:4174") -AnnotationAssertion( "MSH:D013576") AnnotationAssertion( "SNOMEDCT_US:373413006") AnnotationAssertion( "UMLS:C0039075") AnnotationAssertion(Annotation( ) Annotation( ) "Webbed fingers or toes") @@ -33285,7 +32931,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Abnormally long and slender fingers (\"spider fingers\").") AnnotationAssertion( "HP:0001505") -AnnotationAssertion( "MSH:D054119") AnnotationAssertion( "SNOMEDCT_US:62250003") AnnotationAssertion( "UMLS:C0003706") AnnotationAssertion(Annotation( ) "Long slender fingers") @@ -33344,7 +32989,6 @@ SubClassOf( (Abnormal thumb morphology) AnnotationAssertion( "An abnormal structure of the first digit of the hand.") -AnnotationAssertion( "MSH:C536903") AnnotationAssertion( "SNOMEDCT_US:299130003") AnnotationAssertion( "UMLS:C0575897") AnnotationAssertion(Annotation( ) "Abnormality of the thumb") @@ -33377,7 +33021,6 @@ AnnotationAssertion( "HP:0005634") AnnotationAssertion( "HP:0006182") AnnotationAssertion( "HP:0009604") -AnnotationAssertion( "MSH:C536332") AnnotationAssertion( "SNOMEDCT_US:205135003") AnnotationAssertion( "SNOMEDCT_US:445216006") AnnotationAssertion( "UMLS:C1395852") @@ -33513,7 +33156,6 @@ SubClassOf( (Single umbilical artery) AnnotationAssertion(Annotation( ) "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.") -AnnotationAssertion( "MSH:D058529") AnnotationAssertion( "SNOMEDCT_US:204470001") AnnotationAssertion( "UMLS:C1384670") AnnotationAssertion(Annotation( ) "2 vessel cord") @@ -33558,7 +33200,6 @@ AnnotationAssertion( "HP:0006194") AnnotationAssertion( "HP:0009610") AnnotationAssertion( "HP:0009619") -AnnotationAssertion( "MSH:C573898") AnnotationAssertion( "SNOMEDCT_US:205308004") AnnotationAssertion( "UMLS:C0241397") AnnotationAssertion( "Accessory phalanx of the thumb") @@ -33881,7 +33522,6 @@ AnnotationAssertion( "HP:0007154") AnnotationAssertion( "HP:0007176") AnnotationAssertion( "HP:0007180") -AnnotationAssertion( "MSH:D008607") AnnotationAssertion( "SNOMEDCT_US:228156007") AnnotationAssertion( "SNOMEDCT_US:247578003") AnnotationAssertion( "SNOMEDCT_US:91138005") @@ -33930,8 +33570,6 @@ AnnotationAssertion( "HP:0002794") AnnotationAssertion( "HP:0006997") AnnotationAssertion( "HP:0010520") -AnnotationAssertion( "MSH:D004827") -AnnotationAssertion( "MSH:D012640") AnnotationAssertion( "SNOMEDCT_US:128613002") AnnotationAssertion( "SNOMEDCT_US:246545002") AnnotationAssertion( "SNOMEDCT_US:313307000") @@ -33954,7 +33592,6 @@ AnnotationAssertion( "HP:0002513") AnnotationAssertion( "HP:0007050") AnnotationAssertion( "HP:0007157") -AnnotationAssertion( "MSH:D002524") AnnotationAssertion( "SNOMEDCT_US:85102008") AnnotationAssertion( "UMLS:C0007758") AnnotationAssertion( "Cerebellar ataxia") @@ -33968,7 +33605,6 @@ SubClassOf( ) Annotation( "PMID:21418198") "Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.") AnnotationAssertion( "HP:0011398") -AnnotationAssertion( "MSH:D009123") AnnotationAssertion( "SNOMEDCT_US:398151007") AnnotationAssertion( "SNOMEDCT_US:398152000") AnnotationAssertion( "UMLS:C0026827") @@ -33993,7 +33629,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D053609") AnnotationAssertion( "SNOMEDCT_US:214264003") AnnotationAssertion( "UMLS:C0023380") AnnotationAssertion( "Dullness") @@ -34027,7 +33662,6 @@ SubClassOf( (Spasticity) AnnotationAssertion(Annotation( ) "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.") -AnnotationAssertion( "MSH:D009128") AnnotationAssertion( "SNOMEDCT_US:221360009") AnnotationAssertion( "SNOMEDCT_US:397790002") AnnotationAssertion( "UMLS:C0026838") @@ -34045,7 +33679,6 @@ AnnotationAssertion(Annotation( "HP:0007062") AnnotationAssertion( "HP:0007124") AnnotationAssertion( "HP:0007216") -AnnotationAssertion( "MSH:D010264") AnnotationAssertion( "SNOMEDCT_US:192967009") AnnotationAssertion( "UMLS:C0037772") AnnotationAssertion( "Spastic paraplegia, lower limb") @@ -34065,7 +33698,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(Annotation(rdfs:label "Coma, unspecified") "ICD-10:R40.2") -AnnotationAssertion( "MSH:D003128") AnnotationAssertion( "SNOMEDCT_US:371632003") AnnotationAssertion( "UMLS:C0009421") AnnotationAssertion(Annotation( ) "Coma") @@ -34082,7 +33714,6 @@ SubClassOf( ) "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.") AnnotationAssertion( "HP:0002327") -AnnotationAssertion( "MSH:D004401") AnnotationAssertion( "SNOMEDCT_US:8011004") AnnotationAssertion( "UMLS:C0013362") AnnotationAssertion(Annotation( ) "Difficulty articulating speech") @@ -34162,7 +33793,6 @@ SubClassOf( (Spastic diplegia) AnnotationAssertion(Annotation( ) "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.") -AnnotationAssertion( "MSH:D002547") AnnotationAssertion( "SNOMEDCT_US:281411007") AnnotationAssertion( "UMLS:C0023882") AnnotationAssertion( "Spastic diparesis") @@ -34209,7 +33839,6 @@ AnnotationAssertion( "HP:0007253") AnnotationAssertion( "HP:0007264") AnnotationAssertion( "HP:0007298") -AnnotationAssertion( "MSH:D060825") AnnotationAssertion( "UMLS:C0234985") AnnotationAssertion(Annotation( ) "Cognitive decline") AnnotationAssertion(Annotation( ) "Cognitive decline, progressive") @@ -34223,7 +33852,6 @@ SubClassOf( (Hemiparesis) AnnotationAssertion(Annotation( ) Annotation( "HPO_CONTRIBUTOR:UKB_tklockgether") "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.") -AnnotationAssertion( "MSH:D010291") AnnotationAssertion( "SNOMEDCT_US:127377003") AnnotationAssertion( "SNOMEDCT_US:20022000") AnnotationAssertion( "UMLS:C0018989") @@ -34265,8 +33893,6 @@ SubClassOf( ) "A generalized disorder of peripheral nerves.") AnnotationAssertion( "HP:0006941") AnnotationAssertion( "HP:0007287") -AnnotationAssertion( "MSH:D010523") -AnnotationAssertion( "MSH:D011115") AnnotationAssertion( "SNOMEDCT_US:302226006") AnnotationAssertion( "SNOMEDCT_US:42345000") AnnotationAssertion( "SNOMEDCT_US:42658009") @@ -34316,7 +33942,6 @@ SubClassOf( ) "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.") AnnotationAssertion( "HP:0006800") AnnotationAssertion( "Fyler:4321") -AnnotationAssertion( "MSH:D061085") AnnotationAssertion( "SNOMEDCT_US:5102002") AnnotationAssertion( "UMLS:C0175754") AnnotationAssertion( "Absence of corpus callosum") @@ -34334,7 +33959,6 @@ SubClassOf( ) "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.") AnnotationAssertion( "HP:0002388") -AnnotationAssertion( "MSH:D009122") AnnotationAssertion( "SNOMEDCT_US:41581000") AnnotationAssertion( "SNOMEDCT_US:56731001") AnnotationAssertion( "UMLS:C0026826") @@ -34353,7 +33977,6 @@ SubClassOf( ) "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.") AnnotationAssertion( "HP:0004932") AnnotationAssertion( "HP:0006700") -AnnotationAssertion( "MSH:D007024") AnnotationAssertion( "SNOMEDCT_US:28651003") AnnotationAssertion( "UMLS:C0020651") AnnotationAssertion(Annotation( ) Annotation( ) "Decrease in blood pressure upon standing up") @@ -34368,7 +33991,6 @@ SubClassOf( ) Annotation( "PMID:29255499") "Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-02-25T10:37:00Z") -AnnotationAssertion( "MSH:D013575") AnnotationAssertion( "SNOMEDCT_US:271594007") AnnotationAssertion( "SNOMEDCT_US:272030005") AnnotationAssertion( "SNOMEDCT_US:309585006") @@ -34381,7 +34003,6 @@ SubClassOf( (Tetany) AnnotationAssertion( "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.") -AnnotationAssertion( "MSH:D013746") AnnotationAssertion( "SNOMEDCT_US:10629009") AnnotationAssertion( "UMLS:C0039621") AnnotationAssertion(Annotation( ) Annotation( ) "Intermittent involuntary muscle spasm") @@ -34394,7 +34015,6 @@ SubClassOf( ) "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.") AnnotationAssertion( "HP:0003441") AnnotationAssertion( "HP:0003709") -AnnotationAssertion( "MSH:D010244") AnnotationAssertion( "SNOMEDCT_US:398432008") AnnotationAssertion( "UMLS:C1301959") AnnotationAssertion( "UMLS:C4082299") @@ -34411,7 +34031,6 @@ SubClassOf( ) "Absence of neurologic reflexes such as the knee-jerk reaction.") AnnotationAssertion( "HP:0001314") AnnotationAssertion(Annotation( ) "Absent reflexes") -AnnotationAssertion( "MSH:D012021") AnnotationAssertion( "SNOMEDCT_US:349006") AnnotationAssertion( "SNOMEDCT_US:37280007") AnnotationAssertion( "UMLS:C0234146") @@ -34442,7 +34061,6 @@ SubClassOf( (Meningitis) AnnotationAssertion(Annotation( ) "Inflammation of the meninges.") -AnnotationAssertion( "MSH:D008581") AnnotationAssertion( "SNOMEDCT_US:7180009") AnnotationAssertion( "UMLS:C0025289") AnnotationAssertion( "HP:0001287") @@ -34476,7 +34094,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "HP:0000731") -AnnotationAssertion( "MSH:D003221") AnnotationAssertion( "SNOMEDCT_US:286933003") AnnotationAssertion( "UMLS:C0009676") AnnotationAssertion(Annotation( ) "Confusion") @@ -34531,7 +34148,6 @@ SubClassOf( ) "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.") AnnotationAssertion( "HP:0002452") -AnnotationAssertion( "MSH:D020521") AnnotationAssertion( "SNOMEDCT_US:230690007") AnnotationAssertion( "UMLS:C0038454") AnnotationAssertion( "Cerebral vascular events") @@ -34545,7 +34161,6 @@ SubClassOf( (Encephalopathy) AnnotationAssertion(Annotation( ) Annotation( "HPO_CONTRIBUTOR:KI_phemming") "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.") -AnnotationAssertion( "MSH:D001927") AnnotationAssertion( "SNOMEDCT_US:81308009") AnnotationAssertion( "UMLS:C0085584") AnnotationAssertion( "HP:0001298") @@ -34556,7 +34171,6 @@ SubClassOf( (Parkinsonism) AnnotationAssertion(Annotation( ) "Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.") -AnnotationAssertion( "MSH:D020734") AnnotationAssertion( "SNOMEDCT_US:32798002") AnnotationAssertion( "UMLS:C0242422") AnnotationAssertion( "Parkinsonian disease") @@ -34575,7 +34189,6 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:22427329") "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.") AnnotationAssertion( "HP:0007227") -AnnotationAssertion( "MSH:D054082") AnnotationAssertion( "SNOMEDCT_US:23024003") AnnotationAssertion( "UMLS:C0266483") AnnotationAssertion( "Cerebral pachygyria") @@ -34588,7 +34201,6 @@ SubClassOf( (Torsion dystonia) AnnotationAssertion(Annotation( ) "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.") -AnnotationAssertion( "MSH:D004422") AnnotationAssertion( "SNOMEDCT_US:22451001") AnnotationAssertion( "SNOMEDCT_US:431034009") AnnotationAssertion( "UMLS:C0013423") @@ -34602,7 +34214,6 @@ SubClassOf( ) Annotation( "PMID:26246090") "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.") AnnotationAssertion( "HP:0001313") AnnotationAssertion( "HP:0006809") -AnnotationAssertion( "MSH:D003616") AnnotationAssertion( "SNOMEDCT_US:14447001") AnnotationAssertion( "UMLS:C0010964") AnnotationAssertion( "Dandy-Walker cyst") @@ -34619,7 +34230,6 @@ SubClassOf( ) "Fasciculations or fibrillation affecting the tongue muscle.") AnnotationAssertion( "HP:0003727") -AnnotationAssertion( "MSH:D005207") AnnotationAssertion( "SNOMEDCT_US:249878001") AnnotationAssertion( "UMLS:C0239548") AnnotationAssertion(Annotation( ) "Lingual fasciculations") @@ -34638,7 +34248,6 @@ SubClassOf( (Dysmetria) AnnotationAssertion(Annotation( ) "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.") -AnnotationAssertion( "MSH:D002524") AnnotationAssertion( "SNOMEDCT_US:32566006") AnnotationAssertion( "UMLS:C0234162") AnnotationAssertion(Annotation( ) Annotation( ) "Lack of coordination of movement") @@ -34714,7 +34323,6 @@ SubClassOf( ) "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.") AnnotationAssertion( "HP:0006830") AnnotationAssertion( "HP:0008976") -AnnotationAssertion( "MSH:D009123") AnnotationAssertion( "SNOMEDCT_US:205294008") AnnotationAssertion( "UMLS:C2267233") AnnotationAssertion( "Hypotonia, in neonatal onset") @@ -34745,7 +34353,6 @@ AnnotationAssertion( "HP:0006910") AnnotationAssertion( "HP:0007038") AnnotationAssertion( "HP:0007053") -AnnotationAssertion( "MSH:C562568") AnnotationAssertion( "SNOMEDCT_US:16026008") AnnotationAssertion( "UMLS:C0266470") AnnotationAssertion( "Congenital cerebellar hypoplasia") @@ -34773,7 +34380,6 @@ AnnotationAssertion( "HP:0008979") AnnotationAssertion( "HP:0009012") AnnotationAssertion( "HP:0009061") -AnnotationAssertion( "MSH:D018908") AnnotationAssertion( "SNOMEDCT_US:26544005") AnnotationAssertion( "UMLS:C0151786") AnnotationAssertion(Annotation( ) "Muscle weakness") @@ -34839,7 +34445,6 @@ SubClassOf( ) Annotation( "PMID:30725733") "Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.") AnnotationAssertion( "HP:0006969") -AnnotationAssertion( "MSH:C535562") AnnotationAssertion( "SNOMEDCT_US:253143001") AnnotationAssertion( "UMLS:C0431371") AnnotationAssertion( "Absence of septum pellucidum") @@ -34856,7 +34461,6 @@ SubClassOf( ) "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.") AnnotationAssertion( "HP:0002328") -AnnotationAssertion( "MSH:D004421") AnnotationAssertion( "UMLS:C0013421") AnnotationAssertion( "UMLS:C4020871") AnnotationAssertion( "Dystonic movements") @@ -34869,7 +34473,6 @@ SubClassOf( (Communicating hydrocephalus) AnnotationAssertion(Annotation( ) Annotation( "eMedicine:1135286") "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.") -AnnotationAssertion( "MSH:D006849") AnnotationAssertion( "SNOMEDCT_US:271569006") AnnotationAssertion( "UMLS:C0009451") AnnotationAssertion( "HP:0001334") @@ -34896,7 +34499,6 @@ AnnotationAssertion(Annotation( "HP:0002535") AnnotationAssertion( "HP:0007087") AnnotationAssertion(Annotation( ) "Jerking") -AnnotationAssertion( "MSH:D009207") AnnotationAssertion( "SNOMEDCT_US:127324008") AnnotationAssertion( "SNOMEDCT_US:17450006") AnnotationAssertion( "UMLS:C0027066") @@ -34914,7 +34516,6 @@ SubClassOf( ) Annotation( "PMID:16344298") Annotation( "PMID:20589866") "An unintentional, oscillating to-and-fro muscle movement about a joint axis.") AnnotationAssertion( "HP:0001295") AnnotationAssertion( "HP:0001309") -AnnotationAssertion( "MSH:D014202") AnnotationAssertion( "SNOMEDCT_US:26079004") AnnotationAssertion( "UMLS:C0040822") AnnotationAssertion(Annotation( ) "Tremor") @@ -34932,7 +34533,6 @@ AnnotationAssertion(Annotation( "HP:0006982") AnnotationAssertion( "HP:0007090") AnnotationAssertion( "HP:0007128") -AnnotationAssertion( "MSH:C536111") AnnotationAssertion( "SNOMEDCT_US:253140003") AnnotationAssertion( "UMLS:C0431368") AnnotationAssertion( "UMLS:C1857278") @@ -34952,7 +34552,6 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:28440899") "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.") AnnotationAssertion( "HP:0002537") -AnnotationAssertion( "MSH:D054082") AnnotationAssertion( "SNOMEDCT_US:204036008") AnnotationAssertion( "UMLS:C0266463") AnnotationAssertion( "UMLS:C1879312") @@ -34983,8 +34582,6 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "Hemorrhage into the parenchyma of the brain.") AnnotationAssertion( "HP:0002137") -AnnotationAssertion( "MSH:D002543") -AnnotationAssertion( "MSH:D020300") AnnotationAssertion( "SNOMEDCT_US:230706003") AnnotationAssertion( "SNOMEDCT_US:274100004") AnnotationAssertion( "UMLS:C0553692") @@ -35003,7 +34600,6 @@ SubClassOf( (Kernicterus) AnnotationAssertion(Annotation( ) "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.") -AnnotationAssertion( "MSH:D007647") AnnotationAssertion( "SNOMEDCT_US:50143004") AnnotationAssertion( "SNOMEDCT_US:74925009") AnnotationAssertion( "UMLS:C0022610") @@ -35052,7 +34648,6 @@ AnnotationAssertion( "HP:0006820") AnnotationAssertion( "HP:0007184") AnnotationAssertion( "HP:0007318") -AnnotationAssertion( "MSH:D012021") AnnotationAssertion( "SNOMEDCT_US:86854008") AnnotationAssertion( "UMLS:C0151889") AnnotationAssertion( "Increased deep tendon reflexes") @@ -35108,7 +34703,6 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:28658095") Annotation( "PMID:29594439") "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).") AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged brain") -AnnotationAssertion( "MSH:D058627") AnnotationAssertion( "SNOMEDCT_US:19410003") AnnotationAssertion( "UMLS:C0221355") AnnotationAssertion( "Macrencephaly") @@ -35126,8 +34720,6 @@ AnnotationAssertion(Annotation( ) Annotation( ) "Asymmetry of the posterior skull") AnnotationAssertion(Annotation( ) "Flat head") AnnotationAssertion(Annotation( ) Annotation( ) "Rhomboid shaped head") -AnnotationAssertion( "MSH:D049068") -AnnotationAssertion( "MSH:D059041") AnnotationAssertion( "SNOMEDCT_US:21850008") AnnotationAssertion( "SNOMEDCT_US:254024005") AnnotationAssertion( "UMLS:C0265529") @@ -35156,7 +34748,6 @@ SubClassOf( ) "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.") AnnotationAssertion( "HP:0009807") AnnotationAssertion( "Fyler:4338") -AnnotationAssertion( "MSH:D016142") AnnotationAssertion( "SNOMEDCT_US:30915001") AnnotationAssertion( "UMLS:C0079541") AnnotationAssertion( "Single brain ventricle") @@ -35198,7 +34789,6 @@ AnnotationAssertion( "HP:0008492") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/Craniosynostosis") Annotation( ) "Deformity of the skull") AnnotationAssertion( "Fyler:4336") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:57219006") AnnotationAssertion( "UMLS:C0010278") AnnotationAssertion( "UMLS:C0235942") @@ -35220,7 +34810,6 @@ SubClassOf( (Abnormal joint morphology) AnnotationAssertion(Annotation( ) "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.") -AnnotationAssertion( "MSH:D007592") AnnotationAssertion( "SNOMEDCT_US:399269003") AnnotationAssertion( "UMLS:C0022408") AnnotationAssertion( "UMLS:C0240083") @@ -35236,7 +34825,6 @@ SubClassOf( (Arthritis) AnnotationAssertion(Annotation( ) "Inflammation of a joint.") -AnnotationAssertion( "MSH:D001168") AnnotationAssertion( "SNOMEDCT_US:3723001") AnnotationAssertion( "UMLS:C0003864") AnnotationAssertion(Annotation( ) "Arthritis") @@ -35249,7 +34837,6 @@ SubClassOf( (Rheumatoid arthritis) AnnotationAssertion(Annotation( ) "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.") -AnnotationAssertion( "MSH:D001172") AnnotationAssertion( "SNOMEDCT_US:69896004") AnnotationAssertion( "UMLS:C0003873") AnnotationAssertion(Annotation( ) "RA") @@ -35266,7 +34853,6 @@ AnnotationAssertion( "HP:0005053") AnnotationAssertion( "HP:0005189") AnnotationAssertion( "HP:0005660") -AnnotationAssertion( "MSH:D003286") AnnotationAssertion( "SNOMEDCT_US:203598005") AnnotationAssertion( "SNOMEDCT_US:385522000") AnnotationAssertion( "SNOMEDCT_US:55033002") @@ -35290,7 +34876,6 @@ SubClassOf( ) "Displacement or malalignment of joints.") AnnotationAssertion( "HP:0002772") AnnotationAssertion( "HP:0005837") -AnnotationAssertion( "MSH:D004204") AnnotationAssertion( "SNOMEDCT_US:108367008") AnnotationAssertion( "SNOMEDCT_US:87642003") AnnotationAssertion( "UMLS:C0012691") @@ -35304,7 +34889,6 @@ SubClassOf( (Congenital hip dislocation) -AnnotationAssertion( "MSH:D006618") AnnotationAssertion( "SNOMEDCT_US:48334007") AnnotationAssertion( "SNOMEDCT_US:52781008") AnnotationAssertion( "UMLS:C0019555") @@ -35415,7 +34999,6 @@ SubClassOf( ) "The presence of developmental dysplasia of the hip.") AnnotationAssertion( "HP:0008787") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal formation of the hip") -AnnotationAssertion( "MSH:D006618") AnnotationAssertion( "SNOMEDCT_US:48334007") AnnotationAssertion( "SNOMEDCT_US:52781008") AnnotationAssertion( "UMLS:C0019555") @@ -35463,7 +35046,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Abnormality of the liver) AnnotationAssertion(Annotation( ) "An abnormality of the liver.") -AnnotationAssertion( "MSH:D008107") AnnotationAssertion( "SNOMEDCT_US:235856003") AnnotationAssertion( "UMLS:C0023895") AnnotationAssertion( "UMLS:C4021780") @@ -35479,7 +35061,6 @@ SubClassOf( (Cirrhosis) AnnotationAssertion(Annotation( ) "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.") -AnnotationAssertion( "MSH:D008103") AnnotationAssertion( "SNOMEDCT_US:19943007") AnnotationAssertion( "UMLS:C0023890") AnnotationAssertion( "Hepatic cirrhosis") @@ -35493,7 +35074,6 @@ SubClassOf( (Hepatic fibrosis) AnnotationAssertion(Annotation( ) "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.") -AnnotationAssertion( "MSH:D008103") AnnotationAssertion( "SNOMEDCT_US:62484002") AnnotationAssertion( "UMLS:C0239946") AnnotationAssertion( "Liver fibrosis") @@ -35505,7 +35085,6 @@ SubClassOf( (Cholestasis) AnnotationAssertion(Annotation( ) "Impairment of bile flow due to obstruction in bile ducts.") -AnnotationAssertion( "MSH:D002779") AnnotationAssertion( "SNOMEDCT_US:197446008") AnnotationAssertion( "SNOMEDCT_US:30144000") AnnotationAssertion( "SNOMEDCT_US:33688009") @@ -35520,7 +35099,6 @@ SubClassOf( ) Annotation( "PMID:31603713") "Steatosis is a term used to denote lipid accumulation within hepatocytes.") AnnotationAssertion( "HP:0002252") AnnotationAssertion( "HP:0200121") -AnnotationAssertion( "MSH:D005234") AnnotationAssertion( "SNOMEDCT_US:197321007") AnnotationAssertion( "SNOMEDCT_US:442191002") AnnotationAssertion( "UMLS:C2711227") @@ -35535,7 +35113,6 @@ SubClassOf( (Hepatic failure) -AnnotationAssertion( "MSH:D017093") AnnotationAssertion( "SNOMEDCT_US:59927004") AnnotationAssertion( "UMLS:C0085605") AnnotationAssertion(Annotation( ) "Liver failure") @@ -35564,7 +35141,6 @@ AnnotationAssertion(Annotation( "HP:0002899") AnnotationAssertion( "HP:0003007") AnnotationAssertion( "HP:0006750") -AnnotationAssertion( "MSH:D006528") AnnotationAssertion( "NCIT:C3099") AnnotationAssertion( "SNOMEDCT_US:109841003") AnnotationAssertion( "SNOMEDCT_US:187769009") @@ -35611,7 +35187,6 @@ SubClassOf( ) "Impairment of bile flow due to obstruction in the small bile ducts within the liver.") AnnotationAssertion(Annotation( ) Annotation( ) "Impaired release of bile from liver") -AnnotationAssertion( "MSH:D002780") AnnotationAssertion( "SNOMEDCT_US:4637005") AnnotationAssertion( "UMLS:C0008372") AnnotationAssertion( "HP:0001406") @@ -35642,7 +35217,6 @@ SubClassOf( (Portal hypertension) AnnotationAssertion(Annotation( ) "Increased pressure in the portal vein.") -AnnotationAssertion( "MSH:D006975") AnnotationAssertion( "SNOMEDCT_US:34742003") AnnotationAssertion( "UMLS:C0020541") AnnotationAssertion( "HP:0001409") @@ -35658,7 +35232,6 @@ AnnotationAssertion(Annotation( "HP:0004393") AnnotationAssertion( "HP:0005228") AnnotationAssertion( "HP:0006570") -AnnotationAssertion( "MSH:D008107") AnnotationAssertion( "SNOMEDCT_US:75183008") AnnotationAssertion( "SNOMEDCT_US:77981007") AnnotationAssertion( "UMLS:C0086565") @@ -35705,7 +35278,6 @@ SubClassOf( ) "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.") AnnotationAssertion( "HP:0001418") -AnnotationAssertion( "MSH:D050172") AnnotationAssertion( "SNOMEDCT_US:263934009") AnnotationAssertion( "UMLS:C0241764") AnnotationAssertion( "X-linked") @@ -35758,7 +35330,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "A mode of inheritance that depends on genetic determinants in more than one gene.") AnnotationAssertion( "HP:0001429") AnnotationAssertion( "HP:0001472") -AnnotationAssertion( "MSH:D020412") AnnotationAssertion( "UMLS:C0600599") AnnotationAssertion( "Familial predisposition") AnnotationAssertion( "HP:0001426") @@ -35772,7 +35343,6 @@ AnnotationAssertion(Annotation( "HP:0001431") AnnotationAssertion( "HP:0001458") AnnotationAssertion( "HP:0001506") -AnnotationAssertion( "MSH:D050259") AnnotationAssertion( "UMLS:C0887941") AnnotationAssertion( "Mitochondrial") AnnotationAssertion(Annotation( ) "mitochondrial") @@ -35961,7 +35531,6 @@ SubClassOf( (Y-linked inheritance) AnnotationAssertion(Annotation( ) "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.") -AnnotationAssertion( "MSH:D050173") AnnotationAssertion( "UMLS:C0814045") AnnotationAssertion( "Y-linked") AnnotationAssertion(Annotation( ) "monoallelic_Y_hemizygous") @@ -36188,7 +35757,6 @@ SubClassOf( (Freckling) AnnotationAssertion( "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.") -AnnotationAssertion( "MSH:D008548") AnnotationAssertion( "SNOMEDCT_US:403536009") AnnotationAssertion( "SNOMEDCT_US:699225003") AnnotationAssertion( "UMLS:C0016689") @@ -36254,7 +35822,6 @@ SubClassOf( (Posterior vitreous detachment) AnnotationAssertion(Annotation( ) Annotation( "PMID:24376338") "Separation of the vitreous humor from the retina.") -AnnotationAssertion( "MSH:D020255") AnnotationAssertion( "SNOMEDCT_US:247081001") AnnotationAssertion( "UMLS:C0423361") AnnotationAssertion( "Vitreous detachment") @@ -36266,7 +35833,6 @@ SubClassOf( (Congenital fibrosis of extraocular muscles) AnnotationAssertion(Annotation( ) "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.") -AnnotationAssertion( "MSH:C580012") AnnotationAssertion( "SNOMEDCT_US:400946004") AnnotationAssertion( "UMLS:C1302995") AnnotationAssertion(Annotation( ) Annotation( ) "CFEOM") @@ -36281,7 +35847,6 @@ SubClassOf( (Axenfeld anomaly) AnnotationAssertion(Annotation( ) "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.") -AnnotationAssertion( "MSH:C535679") AnnotationAssertion( "SNOMEDCT_US:204152008") AnnotationAssertion( "UMLS:C0266548") AnnotationAssertion( "HP:0001492") @@ -36443,8 +36008,6 @@ AnnotationAssertion( "HP:0008862") AnnotationAssertion( "HP:0008892") AnnotationAssertion( "HP:0008931") -AnnotationAssertion( "MSH:D005317") -AnnotationAssertion( "MSH:D007236") AnnotationAssertion( "SNOMEDCT_US:199612005") AnnotationAssertion( "SNOMEDCT_US:22033007") AnnotationAssertion( "UMLS:C0015934") @@ -36471,7 +36034,6 @@ SubClassOf( (Obesity) AnnotationAssertion( "Accumulation of substantial excess body fat.") -AnnotationAssertion( "MSH:D009765") AnnotationAssertion( "SNOMEDCT_US:414915002") AnnotationAssertion( "SNOMEDCT_US:414916001") AnnotationAssertion( "UMLS:C0028754") @@ -36489,7 +36051,6 @@ AnnotationAssertion( "HP:0008849") AnnotationAssertion( "HP:0008919") AnnotationAssertion( "HP:0008927") -AnnotationAssertion( "MSH:D007230") AnnotationAssertion( "SNOMEDCT_US:267258002") AnnotationAssertion( "SNOMEDCT_US:276610007") AnnotationAssertion( "UMLS:C0024032") @@ -36506,7 +36067,6 @@ SubClassOf( ) Annotation( ) "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.") AnnotationAssertion( "HP:0003511") AnnotationAssertion( "HP:0008864") -AnnotationAssertion( "MSH:D054119") AnnotationAssertion( "SNOMEDCT_US:62250003") AnnotationAssertion( "UMLS:C0003706") AnnotationAssertion( "UMLS:C1836996") @@ -36650,7 +36210,6 @@ SubClassOf( ) "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.") AnnotationAssertion( "Fyler:4404") AnnotationAssertion(Annotation(rdfs:label "Omphalocoele") "MEDDRA:10030309") -AnnotationAssertion( "MSH:D006554") AnnotationAssertion( "SNOMEDCT_US:18735004") AnnotationAssertion( "UMLS:C0795690") AnnotationAssertion( "Exomphalos") @@ -36677,7 +36236,6 @@ SubClassOf( (Ascites) AnnotationAssertion(Annotation( ) "Accumulation of fluid in the peritoneal cavity.") -AnnotationAssertion( "MSH:D001201") AnnotationAssertion( "SNOMEDCT_US:389026000") AnnotationAssertion( "UMLS:C0003962") AnnotationAssertion(Annotation( ) "Accumulation of fluid in the abdomen") @@ -36692,7 +36250,6 @@ SubClassOf( ) "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.") AnnotationAssertion(Annotation(rdfs:label "Gastroschisis") "MEDDRA:10018046") -AnnotationAssertion( "MSH:D020139") AnnotationAssertion( "SNOMEDCT_US:72951007") AnnotationAssertion( "UMLS:C0265706") AnnotationAssertion( "HP:0001543") @@ -36853,7 +36410,6 @@ SubClassOf( ) "The presence of excess amniotic fluid in the uterus during pregnancy.") AnnotationAssertion( "HP:0005098") -AnnotationAssertion( "MSH:D006831") AnnotationAssertion( "SNOMEDCT_US:86203003") AnnotationAssertion( "UMLS:C0020224") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "High levels of amniotic fluid") @@ -36869,7 +36425,6 @@ SubClassOf( ) "Diminished amniotic fluid volume in pregnancy.") AnnotationAssertion( "HP:0004638") -AnnotationAssertion( "MSH:D016104") AnnotationAssertion( "SNOMEDCT_US:59566000") AnnotationAssertion( "UMLS:C0079924") AnnotationAssertion( "UMLS:C3550658") @@ -37013,7 +36568,6 @@ SubClassOf( (Rotary nystagmus) AnnotationAssertion(Annotation( ) "A form of nystagmus in which the eyeball makes rotary motions around the axis.") -AnnotationAssertion( "MSH:D009759") AnnotationAssertion( "SNOMEDCT_US:44526006") AnnotationAssertion( "SNOMEDCT_US:95783006") AnnotationAssertion( "UMLS:C0240595") @@ -37026,7 +36580,6 @@ SubClassOf( (Vesicovaginal fistula) AnnotationAssertion(Annotation( ) "The presence of a fistula connecting the urinary bladder to the vagina.") -AnnotationAssertion( "MSH:D014719") AnnotationAssertion( "SNOMEDCT_US:89405008") AnnotationAssertion( "UMLS:C0042582") AnnotationAssertion( "HP:0001586") @@ -37107,7 +36660,6 @@ AnnotationAssertion(Annotation( "HP:0002238") AnnotationAssertion( "HP:0008068") AnnotationAssertion(Annotation(rdfs:label "Alopecia") "MEDDRA:10001760") -AnnotationAssertion( "MSH:D000505") AnnotationAssertion( "SNOMEDCT_US:278040002") AnnotationAssertion( "SNOMEDCT_US:56317004") AnnotationAssertion( "UMLS:C0002170") @@ -37120,8 +36672,6 @@ SubClassOf( (Abnormality of the nail) AnnotationAssertion(Annotation( ) "Abnormality of the nail.") -AnnotationAssertion( "MSH:D009260") -AnnotationAssertion( "MSH:D009264") AnnotationAssertion( "SNOMEDCT_US:17790008") AnnotationAssertion( "UMLS:C0027339") AnnotationAssertion( "UMLS:C0853087") @@ -37161,7 +36711,6 @@ SubClassOf( (Laryngomalacia) AnnotationAssertion(Annotation( ) "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.") -AnnotationAssertion( "MSH:D055092") AnnotationAssertion( "SNOMEDCT_US:38086007") AnnotationAssertion( "UMLS:C0264303") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Softening of voice box tissue") @@ -37173,7 +36722,6 @@ SubClassOf( (Laryngeal stenosis) AnnotationAssertion(Annotation( ) "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.") -AnnotationAssertion( "MSH:D007829") AnnotationAssertion( "SNOMEDCT_US:75547007") AnnotationAssertion( "UMLS:C0023075") AnnotationAssertion( "HP:0001602") @@ -37187,7 +36735,6 @@ AnnotationAssertion(Annotation( "HP:0001603") AnnotationAssertion( "HP:0001616") AnnotationAssertion( "HP:0008745") -AnnotationAssertion( "MSH:D014826") AnnotationAssertion( "SNOMEDCT_US:302912005") AnnotationAssertion( "SNOMEDCT_US:445424004") AnnotationAssertion( "UMLS:C0751576") @@ -37208,7 +36755,6 @@ SubClassOf( ) "A loss of the ability to move the vocal folds.") AnnotationAssertion( "HP:0001606") AnnotationAssertion( "HP:0006847") -AnnotationAssertion( "MSH:D014826") AnnotationAssertion( "SNOMEDCT_US:302912005") AnnotationAssertion( "UMLS:C0042928") AnnotationAssertion( "UMLS:C1854345") @@ -37252,7 +36798,6 @@ SubClassOf( ) "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.") AnnotationAssertion( "HP:0001613") AnnotationAssertion( "HP:0001619") -AnnotationAssertion( "MSH:D006685") AnnotationAssertion( "SNOMEDCT_US:50219008") AnnotationAssertion( "UMLS:C0019825") AnnotationAssertion( "UMLS:C1854348") @@ -37313,7 +36858,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D055154") AnnotationAssertion( "SNOMEDCT_US:47004009") AnnotationAssertion( "UMLS:C1527344") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Inability to produce voice sounds") @@ -37347,7 +36891,6 @@ SubClassOf( (Weak voice) AnnotationAssertion(Annotation( ) "Reduced intensity (volume) of speech.") -AnnotationAssertion( "MSH:D014832") AnnotationAssertion( "SNOMEDCT_US:34527004") AnnotationAssertion( "SNOMEDCT_US:8614008") AnnotationAssertion( "UMLS:C0241700") @@ -37364,7 +36907,6 @@ SubClassOf( (Premature birth) AnnotationAssertion(Annotation( ) "The birth of a baby of less than 37 weeks of gestational age.") -AnnotationAssertion( "MSH:D047928") AnnotationAssertion( "SNOMEDCT_US:282020008") AnnotationAssertion( "SNOMEDCT_US:367494004") AnnotationAssertion( "SNOMEDCT_US:49550006") @@ -37384,7 +36926,6 @@ SubClassOf( (Breech presentation) AnnotationAssertion(Annotation( ) "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.") -AnnotationAssertion( "MSH:D001946") AnnotationAssertion( "SNOMEDCT_US:249101006") AnnotationAssertion( "SNOMEDCT_US:6096002") AnnotationAssertion( "UMLS:C0006157") @@ -37399,8 +36940,6 @@ SubClassOf( ) "Any abnormality of the cardiovascular system.") AnnotationAssertion( "HP:0003116") -AnnotationAssertion( "MSH:D002318") -AnnotationAssertion( "MSH:D018376") AnnotationAssertion( "SNOMEDCT_US:49601007") AnnotationAssertion( "UMLS:C0007222") AnnotationAssertion( "UMLS:C0243050") @@ -37417,7 +36956,6 @@ SubClassOf( ) "Any structural anomaly of the heart.") AnnotationAssertion( "HP:3000001") -AnnotationAssertion( "MSH:D006330") AnnotationAssertion( "SNOMEDCT_US:13213009") AnnotationAssertion( "UMLS:C0018798") AnnotationAssertion( "UMLS:C0152021") @@ -37440,7 +36978,6 @@ SubClassOf( ) Annotation( "PMID:33327983") "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.") AnnotationAssertion( "HP:0001652") AnnotationAssertion( "Fyler:1300") -AnnotationAssertion( "MSH:D006345") AnnotationAssertion( "SNOMEDCT_US:253549006") AnnotationAssertion( "SNOMEDCT_US:30288003") AnnotationAssertion( "UMLS:C0018818") @@ -37459,7 +36996,6 @@ AnnotationAssertion(Annotation( "HP:0001630") AnnotationAssertion( "Fyler:2050") AnnotationAssertion( "ICD-10:Q21.1") -AnnotationAssertion( "MSH:D006344") AnnotationAssertion( "SNOMEDCT_US:253366007") AnnotationAssertion( "SNOMEDCT_US:405752007") AnnotationAssertion( "SNOMEDCT_US:70142008") @@ -37492,7 +37028,6 @@ SubClassOf( ) "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.") AnnotationAssertion( "Fyler:1533") -AnnotationAssertion( "MSH:D008945") AnnotationAssertion( "SNOMEDCT_US:409712001") AnnotationAssertion( "SNOMEDCT_US:8074002") AnnotationAssertion( "UMLS:C0026267") @@ -37506,7 +37041,6 @@ SubClassOf( ) "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.") AnnotationAssertion( "HP:0006686") -AnnotationAssertion( "MSH:D006333") AnnotationAssertion( "SNOMEDCT_US:42343007") AnnotationAssertion( "SNOMEDCT_US:84114007") AnnotationAssertion( "UMLS:C0018801") @@ -37526,7 +37060,6 @@ SubClassOf( ) "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.") AnnotationAssertion( "ICD-10:Q21.3") -AnnotationAssertion( "MSH:D013771") AnnotationAssertion( "SNOMEDCT_US:86299006") AnnotationAssertion( "UMLS:C0039685") AnnotationAssertion( "Tetrology of fallot") @@ -37549,7 +37082,6 @@ SubClassOf( ) Annotation( "PMID:17916581") "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.") AnnotationAssertion( "Fyler:1840") -AnnotationAssertion( "MSH:D009202") AnnotationAssertion( "SNOMEDCT_US:57809008") AnnotationAssertion( "SNOMEDCT_US:85898001") AnnotationAssertion( "UMLS:C0878544") @@ -37562,7 +37094,6 @@ SubClassOf( (Hypertrophic cardiomyopathy) AnnotationAssertion(Annotation( "PMID:17916581") "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.") -AnnotationAssertion( "MSH:D002312") AnnotationAssertion( "SNOMEDCT_US:233873004") AnnotationAssertion( "SNOMEDCT_US:45227007") AnnotationAssertion( "UMLS:C0007194") @@ -37576,7 +37107,6 @@ SubClassOf( (Cardiomegaly) AnnotationAssertion(Annotation( ) Annotation( "PMID:31194436") "Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.") -AnnotationAssertion( "MSH:D006332") AnnotationAssertion( "SNOMEDCT_US:8186001") AnnotationAssertion( "UMLS:C0018800") AnnotationAssertion(Annotation( ) "Enlarged heart") @@ -37604,7 +37134,6 @@ SubClassOf( ) "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).") AnnotationAssertion( "Fyler:1611") -AnnotationAssertion( "MSH:D011666") AnnotationAssertion( "SNOMEDCT_US:56786000") AnnotationAssertion( "UMLS:C1956257") AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of pulmonic valve") @@ -37621,7 +37150,6 @@ SubClassOf( ) Annotation( "PMID:20421261") "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.") AnnotationAssertion( "Fyler:2100") -AnnotationAssertion( "MSH:D004374") AnnotationAssertion( "SNOMEDCT_US:83330001") AnnotationAssertion( "UMLS:C0013274") AnnotationAssertion( "Ductus arteriosus") @@ -37641,7 +37169,6 @@ AnnotationAssertion( "HP:0005159") AnnotationAssertion( "HP:0200130") AnnotationAssertion( "Fyler:1843") -AnnotationAssertion( "MSH:D002311") AnnotationAssertion( "SNOMEDCT_US:195021004") AnnotationAssertion( "SNOMEDCT_US:399020009") AnnotationAssertion( "UMLS:C0007193") @@ -37657,7 +37184,6 @@ SubClassOf( ) "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).") AnnotationAssertion( "HP:0005161") -AnnotationAssertion( "MSH:D016757") AnnotationAssertion( "SNOMEDCT_US:95281009") AnnotationAssertion( "UMLS:C0085298") AnnotationAssertion(Annotation( ) "Premature sudden cardiac death") @@ -37683,7 +37209,6 @@ SubClassOf( (Bicuspid aortic valve) AnnotationAssertion(Annotation( ) Annotation( "PMID:17467434") Annotation( "PMID:24827036") "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).") -AnnotationAssertion( "MSH:C562388") AnnotationAssertion( "SNOMEDCT_US:72352009") AnnotationAssertion( "UMLS:C0149630") AnnotationAssertion(Annotation( ) Annotation( ) "Aortic valve has two leaflets rather than three") @@ -37696,7 +37221,6 @@ SubClassOf( (Cor pulmonale) AnnotationAssertion(Annotation( ) "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.") -AnnotationAssertion( "MSH:D011660") AnnotationAssertion( "SNOMEDCT_US:274096000") AnnotationAssertion( "SNOMEDCT_US:83291003") AnnotationAssertion( "UMLS:C0034072") @@ -37710,7 +37234,6 @@ SubClassOf( ) "A rapid heartrate that exceeds the range of the normal resting heartrate for age.") AnnotationAssertion( "HP:0001673") AnnotationAssertion( "HP:0001720") -AnnotationAssertion( "MSH:D013610") AnnotationAssertion( "SNOMEDCT_US:3424008") AnnotationAssertion( "SNOMEDCT_US:86651002") AnnotationAssertion( "UMLS:C0039231") @@ -37731,7 +37254,6 @@ SubClassOf( ) "The presence of a stenosis (narrowing) of the aortic valve.") AnnotationAssertion( "HP:0005140") AnnotationAssertion( "Fyler:1411") -AnnotationAssertion( "MSH:D001024") AnnotationAssertion( "SNOMEDCT_US:60573004") AnnotationAssertion( "UMLS:C0003507") AnnotationAssertion( "Aortic stenosis") @@ -37750,7 +37272,6 @@ AnnotationAssertion( "Fyler:0110") AnnotationAssertion( "Fyler:110") AnnotationAssertion( "ICD-10:Q24.0") -AnnotationAssertion( "MSH:D003914") AnnotationAssertion( "SNOMEDCT_US:27637000") AnnotationAssertion( "UMLS:C0011813") AnnotationAssertion(Annotation( ) Annotation( ) "Heart tip and four chambers point towards right side of body") @@ -37764,7 +37285,6 @@ SubClassOf( ) "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.") AnnotationAssertion( "Fyler:1151") -AnnotationAssertion( "MSH:D008944") AnnotationAssertion( "SNOMEDCT_US:48724000") AnnotationAssertion( "UMLS:C0026266") AnnotationAssertion( "UMLS:C3551535") @@ -37783,7 +37303,6 @@ SubClassOf( ) "Any structural abnormality of a cardiac valve.") AnnotationAssertion( "HP:0001703") -AnnotationAssertion( "MSH:D006349") AnnotationAssertion( "SNOMEDCT_US:368009") AnnotationAssertion( "UMLS:C0018824") AnnotationAssertion( "UMLS:C0241654") @@ -37800,7 +37319,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:DDD_dbrown") "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.") AnnotationAssertion( "Fyler:2020") AnnotationAssertion( "ICD-10:Q21.1") -AnnotationAssertion( "MSH:D054092") AnnotationAssertion( "SNOMEDCT_US:204317008") AnnotationAssertion( "UMLS:C0016522") AnnotationAssertion( "Persistent foramen ovale") @@ -37826,7 +37344,6 @@ SubClassOf( (Myocardial infarction) AnnotationAssertion(Annotation( ) "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.") -AnnotationAssertion( "MSH:D009203") AnnotationAssertion( "SNOMEDCT_US:22298006") AnnotationAssertion( "UMLS:C0027051") AnnotationAssertion(Annotation( ) Annotation( ) "Heart attack") @@ -37838,7 +37355,6 @@ SubClassOf( (Aortic regurgitation) AnnotationAssertion(Annotation( ) "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.") -AnnotationAssertion( "MSH:D001022") AnnotationAssertion( "SNOMEDCT_US:60234000") AnnotationAssertion( "UMLS:C0003504") AnnotationAssertion( "Aortic insufficiency") @@ -37854,7 +37370,6 @@ AnnotationAssertion(Annotation( "Fyler:0500") AnnotationAssertion( "Fyler:500") AnnotationAssertion( "ICD-10:Q20.0") -AnnotationAssertion( "MSH:D014338") AnnotationAssertion( "SNOMEDCT_US:58140002") AnnotationAssertion( "UMLS:C0041206") AnnotationAssertion( "UMLS:C4020867") @@ -37867,7 +37382,6 @@ SubClassOf( (Bradycardia) AnnotationAssertion(Annotation( ) "A slower than normal heart rate (in adults, slower than 60 beats per minute).") -AnnotationAssertion( "MSH:D001919") AnnotationAssertion( "SNOMEDCT_US:48867003") AnnotationAssertion( "UMLS:C0428977") AnnotationAssertion( "Brachycardia") @@ -37880,7 +37394,6 @@ SubClassOf( ) "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.") AnnotationAssertion( "HP:0005166") -AnnotationAssertion( "MSH:D014693") AnnotationAssertion( "SNOMEDCT_US:71908006") AnnotationAssertion( "UMLS:C0042510") AnnotationAssertion( "HP:0001663") @@ -37891,7 +37404,6 @@ SubClassOf( (Torsade de pointes) AnnotationAssertion(Annotation( ) "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.") -AnnotationAssertion( "MSH:D016171") AnnotationAssertion( "SNOMEDCT_US:31722008") AnnotationAssertion( "UMLS:C0040479") AnnotationAssertion( "Torsades de pointes") @@ -37903,7 +37415,6 @@ SubClassOf( ) "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.") AnnotationAssertion( "Fyler:3609") -AnnotationAssertion( "MSH:D017380") AnnotationAssertion( "SNOMEDCT_US:89792004") AnnotationAssertion( "UMLS:C0162770") AnnotationAssertion(Annotation( ) "Heart right ventricle hypertrophy") @@ -37938,7 +37449,6 @@ SubClassOf( ) "An anomaly of the intra-atrial or intraventricular septum.") AnnotationAssertion( "HP:0001690") AnnotationAssertion( "HP:0004760") -AnnotationAssertion( "MSH:D006343") AnnotationAssertion( "SNOMEDCT_US:253273004") AnnotationAssertion( "SNOMEDCT_US:396351009") AnnotationAssertion( "SNOMEDCT_US:59494005") @@ -37992,7 +37502,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) Annotation( "PMID:31420554") "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.") AnnotationAssertion( "HP:0004929") AnnotationAssertion( "HP:0005138") -AnnotationAssertion( "MSH:D003324") AnnotationAssertion( "SNOMEDCT_US:414024009") AnnotationAssertion( "SNOMEDCT_US:53741008") AnnotationAssertion( "UMLS:C1956346") @@ -38012,7 +37521,6 @@ AnnotationAssertion(Annotation( "HP:0001668") AnnotationAssertion( "HP:0005142") AnnotationAssertion( "HP:0006672") -AnnotationAssertion( "MSH:D054537") AnnotationAssertion( "SNOMEDCT_US:233917008") AnnotationAssertion( "UMLS:C0004245") AnnotationAssertion( "UMLS:C1841659") @@ -38040,7 +37548,6 @@ SubClassOf( (Coarctation of aorta) AnnotationAssertion(Annotation( ) Annotation( "PMID:23909637") "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.") -AnnotationAssertion( "MSH:D001017") AnnotationAssertion( "SNOMEDCT_US:7305005") AnnotationAssertion( "UMLS:C0003492") AnnotationAssertion( "Aortic coarctation") @@ -38056,7 +37563,6 @@ SubClassOf( (Angina pectoris) AnnotationAssertion(Annotation( ) "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.") -AnnotationAssertion( "MSH:D000787") AnnotationAssertion( "SNOMEDCT_US:194828000") AnnotationAssertion( "SNOMEDCT_US:225566008") AnnotationAssertion( "UMLS:C0002962") @@ -38067,7 +37573,6 @@ SubClassOf( (Subvalvular aortic stenosis) AnnotationAssertion(Annotation( ) "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.") -AnnotationAssertion( "MSH:D001020") AnnotationAssertion( "SNOMEDCT_US:204368006") AnnotationAssertion( "UMLS:C0340375") AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of blood vessel below aortic heart valve") @@ -38082,7 +37587,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_dbrown") "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.") AnnotationAssertion( "Fyler:0170") AnnotationAssertion( "Fyler:170") -AnnotationAssertion( "MSH:D054083") AnnotationAssertion( "SNOMEDCT_US:78250005") AnnotationAssertion( "UMLS:C0013580") AnnotationAssertion( "HP:0001683") @@ -38096,7 +37600,6 @@ AnnotationAssertion(Annotation( "HP:0200131") AnnotationAssertion( "Fyler:2000") AnnotationAssertion( "ICD-10:Q21.1") -AnnotationAssertion( "MSH:D006344") AnnotationAssertion( "SNOMEDCT_US:204315000") AnnotationAssertion( "UMLS:C0344724") AnnotationAssertion(Annotation( ) "Atrial septal defect, ostium secundum type") @@ -38118,7 +37621,6 @@ SubClassOf( (Loss of voice) -AnnotationAssertion( "MSH:D001044") AnnotationAssertion( "SNOMEDCT_US:441913003") AnnotationAssertion( "SNOMEDCT_US:44564008") AnnotationAssertion( "UMLS:C0003564") @@ -38180,7 +37682,6 @@ SubClassOf( (Cardiac arrest) AnnotationAssertion( "An abrupt loss of heart function.") -AnnotationAssertion( "MSH:D006323") AnnotationAssertion( "SNOMEDCT_US:397829000") AnnotationAssertion( "SNOMEDCT_US:410429000") AnnotationAssertion( "UMLS:C0018790") @@ -38194,8 +37695,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:DDD_dbrown") "A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs.") AnnotationAssertion( "Fyler:0100") AnnotationAssertion( "Fyler:100") -AnnotationAssertion( "MSH:D012857") -AnnotationAssertion( "MSH:D059446") AnnotationAssertion( "SNOMEDCT_US:14821001") AnnotationAssertion( "SNOMEDCT_US:24614000") AnnotationAssertion( "SNOMEDCT_US:27317008") @@ -38226,7 +37725,6 @@ SubClassOf( ) "Accumulation of fluid within the pericardium.") AnnotationAssertion( "Fyler:1940") -AnnotationAssertion( "MSH:D010490") AnnotationAssertion( "SNOMEDCT_US:373945007") AnnotationAssertion( "UMLS:C0031039") AnnotationAssertion(Annotation( ) Annotation( ) "Fluid around heart") @@ -38238,7 +37736,6 @@ SubClassOf( (Sudden death) AnnotationAssertion(Annotation( ) "Rapid and unexpected death.") -AnnotationAssertion( "MSH:D003645") AnnotationAssertion( "SNOMEDCT_US:26636000") AnnotationAssertion( "UMLS:C0011071") AnnotationAssertion( "HP:0001699") @@ -38258,7 +37755,6 @@ SubClassOf( (Pericarditis) AnnotationAssertion(Annotation( ) "Inflammation of the sac-like covering around the heart (pericardium).") -AnnotationAssertion( "MSH:D010493") AnnotationAssertion( "SNOMEDCT_US:3238004") AnnotationAssertion( "UMLS:C0031046") AnnotationAssertion(Annotation( ) Annotation( ) "Swelling or irritation of membrane around heart") @@ -38284,7 +37780,6 @@ SubClassOf( ) "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.") AnnotationAssertion( "Fyler:1733") -AnnotationAssertion( "MSH:D014263") AnnotationAssertion( "SNOMEDCT_US:253383003") AnnotationAssertion( "UMLS:C0040962") AnnotationAssertion( "HP:0001704") @@ -38295,7 +37790,6 @@ SubClassOf( (Right ventricular outlet tract obstruction) AnnotationAssertion(Annotation( "PMID:30038501") "An obstruction to the forward flow of blood in the outflow tract of the right ventricle.") -AnnotationAssertion( "MSH:D014694") AnnotationAssertion( "UMLS:C0035619") AnnotationAssertion( "Right ventricular outlet obstruction") AnnotationAssertion( "HP:0001705") @@ -38305,7 +37799,6 @@ SubClassOf( (Endocardial fibroelastosis) AnnotationAssertion(Annotation( "PMID:23109776") "Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction") -AnnotationAssertion( "MSH:D004695") AnnotationAssertion( "SNOMEDCT_US:65457005") AnnotationAssertion( "UMLS:C0014117") AnnotationAssertion( "HP:0001706") @@ -38329,7 +37822,6 @@ SubClassOf( (Right ventricular failure) AnnotationAssertion(Annotation( ) "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.") -AnnotationAssertion( "MSH:D006333") AnnotationAssertion( "SNOMEDCT_US:128404006") AnnotationAssertion( "SNOMEDCT_US:367363000") AnnotationAssertion( "UMLS:C0235527") @@ -38381,7 +37873,6 @@ SubClassOf( "MP:0002625") "Enlargement or increased size of the heart left ventricle.") AnnotationAssertion( "HP:0005171") AnnotationAssertion( "Fyler:3608") -AnnotationAssertion( "MSH:D017379") AnnotationAssertion( "SNOMEDCT_US:55827005") AnnotationAssertion( "UMLS:C0149721") AnnotationAssertion(Annotation( ) "Heart left ventricle hypertrophy") @@ -38416,7 +37907,6 @@ SubClassOf( (Wolff-Parkinson-White syndrome) AnnotationAssertion(Annotation( ) "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.") -AnnotationAssertion( "MSH:D014927") AnnotationAssertion( "SNOMEDCT_US:74390002") AnnotationAssertion( "UMLS:C0043202") AnnotationAssertion( "HP:0001716") @@ -38441,7 +37931,6 @@ AnnotationAssertion( "EPCC:06.02.92") AnnotationAssertion( "Fyler:1511") AnnotationAssertion( "ICD-10:Q23.2") -AnnotationAssertion( "MSH:D008946") AnnotationAssertion( "SNOMEDCT_US:79619009") AnnotationAssertion( "UMLS:C0026269") AnnotationAssertion( "Mitral valve stenosis") @@ -38455,7 +37944,6 @@ SubClassOf( ) Annotation( "PMID:10798433") "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.") AnnotationAssertion( "Fyler:600") AnnotationAssertion( "Fyler:606") -AnnotationAssertion( "MSH:D004310") AnnotationAssertion( "SNOMEDCT_US:7484005") AnnotationAssertion( "UMLS:C0013069") AnnotationAssertion(Annotation( ) "DORV") @@ -38478,7 +37966,6 @@ SubClassOf( ) Annotation( "PMID:17916581") "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.") AnnotationAssertion( "HP:0005130") -AnnotationAssertion( "MSH:D002313") AnnotationAssertion( "SNOMEDCT_US:415295002") AnnotationAssertion( "SNOMEDCT_US:90828009") AnnotationAssertion( "UMLS:C0007196") @@ -38522,7 +38009,6 @@ SubClassOf( (Abnormality of the pancreas) AnnotationAssertion(Annotation( ) "An abnormality of the pancreas.") -AnnotationAssertion( "MSH:D010182") AnnotationAssertion( "SNOMEDCT_US:3855007") AnnotationAssertion( "UMLS:C0030286") AnnotationAssertion( "UMLS:C4025751") @@ -38536,7 +38022,6 @@ SubClassOf( (Pancreatitis) AnnotationAssertion(Annotation( ) "The presence of inflammation in the pancreas.") -AnnotationAssertion( "MSH:D010195") AnnotationAssertion( "SNOMEDCT_US:75694006") AnnotationAssertion( "UMLS:C0030305") AnnotationAssertion(Annotation( ) Annotation( ) "Pancreatic inflammation") @@ -38549,7 +38034,6 @@ SubClassOf( (Annular pancreas) AnnotationAssertion(Annotation( ) "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.") -AnnotationAssertion( "MSH:C536376") AnnotationAssertion( "SNOMEDCT_US:40315008") AnnotationAssertion( "UMLS:C0149955") AnnotationAssertion( "HP:0001734") @@ -38572,7 +38056,6 @@ SubClassOf( (Pancreatic cysts) AnnotationAssertion(Annotation( ) "A cyst of the pancreas that possess a lining of mucous epithelium.") -AnnotationAssertion( "MSH:D010181") AnnotationAssertion( "SNOMEDCT_US:31258000") AnnotationAssertion( "UMLS:C0030283") AnnotationAssertion( "UMLS:C1860394") @@ -38591,7 +38074,6 @@ AnnotationAssertion(Annotation( "HP:0002581") AnnotationAssertion( "HP:0004508") AnnotationAssertion( "HP:0004509") -AnnotationAssertion( "MSH:D010188") AnnotationAssertion( "SNOMEDCT_US:37992001") AnnotationAssertion( "SNOMEDCT_US:47367009") AnnotationAssertion( "UMLS:C0030293") @@ -38627,7 +38109,6 @@ SubClassOf( (Nasal congestion) AnnotationAssertion(Annotation( ) "Reduced ability to pass air through the nasal cavity often leading to mouth breathing.") -AnnotationAssertion( "MSH:D015508") AnnotationAssertion( "SNOMEDCT_US:232209000") AnnotationAssertion( "SNOMEDCT_US:267100006") AnnotationAssertion( "SNOMEDCT_US:68235000") @@ -38661,7 +38142,6 @@ SubClassOf( ) "Abnormal increased size of the spleen.") AnnotationAssertion( "HP:0001745") AnnotationAssertion( "HP:0006269") -AnnotationAssertion( "MSH:D013163") AnnotationAssertion( "SNOMEDCT_US:16294009") AnnotationAssertion( "UMLS:C0038002") AnnotationAssertion(Annotation( ) Annotation( ) "Increased spleen size") @@ -38768,7 +38248,6 @@ SubClassOf( ) "An abnormality of the skeleton of foot.") AnnotationAssertion( "HP:0010216") AnnotationAssertion( "HP:0010611") -AnnotationAssertion( "MSH:D005530") AnnotationAssertion( "SNOMEDCT_US:229844004") AnnotationAssertion( "UMLS:C0016506") AnnotationAssertion(Annotation( ) "Abnormal feet structure") @@ -38802,7 +38281,6 @@ SubClassOf( ) Annotation( "PMID:32491773") "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.") AnnotationAssertion( "Fyler:4171") AnnotationAssertion(Annotation(rdfs:label "Talipes equinovarus, congenital") "MEDDRA:10043106") -AnnotationAssertion( "MSH:D003025") AnnotationAssertion( "SNOMEDCT_US:249808002") AnnotationAssertion( "SNOMEDCT_US:397932003") AnnotationAssertion( "UMLS:C0009081") @@ -38827,7 +38305,6 @@ SubClassOf( (Pes planus) AnnotationAssertion(Annotation( ) Annotation( "PMID:19125433") "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.") -AnnotationAssertion( "MSH:D005413") AnnotationAssertion( "SNOMEDCT_US:203534009") AnnotationAssertion( "SNOMEDCT_US:53226007") AnnotationAssertion( "UMLS:C0016202") @@ -38845,7 +38322,6 @@ SubClassOf( (Hammertoe) AnnotationAssertion(Annotation( "PMID:19125433") "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.") -AnnotationAssertion( "MSH:D037801") AnnotationAssertion( "SNOMEDCT_US:122481008") AnnotationAssertion( "UMLS:C1136179") AnnotationAssertion(Annotation( ) "Hammer toe") @@ -38908,7 +38384,6 @@ SubClassOf( (Talipes equinovalgus) AnnotationAssertion(Annotation( ) "A deformity of foot and ankle in which the foot is bent down and outwards.") -AnnotationAssertion( "MSH:D004863") AnnotationAssertion( "SNOMEDCT_US:68284008") AnnotationAssertion( "UMLS:C0265642") AnnotationAssertion( "UMLS:C4020866") @@ -39029,7 +38504,6 @@ SubClassOf( ) "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.") AnnotationAssertion( "HP:0002163") -AnnotationAssertion( "MSH:D005322") AnnotationAssertion( "SNOMEDCT_US:237266003") AnnotationAssertion( "SNOMEDCT_US:44223004") AnnotationAssertion( "UMLS:C0015944") @@ -39041,7 +38515,6 @@ SubClassOf( ) "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.") AnnotationAssertion( "HP:0005099") -AnnotationAssertion( "MSH:D015160") AnnotationAssertion( "SNOMEDCT_US:276508000") AnnotationAssertion( "UMLS:C0020305") AnnotationAssertion( "HP:0001789") @@ -39054,7 +38527,6 @@ SubClassOf( (Nonimmune hydrops fetalis) AnnotationAssertion(Annotation( ) "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .") -AnnotationAssertion( "MSH:D015160") AnnotationAssertion( "SNOMEDCT_US:206538000") AnnotationAssertion( "SNOMEDCT_US:276509008") AnnotationAssertion( "UMLS:C0455988") @@ -39114,7 +38586,6 @@ SubClassOf( ) "Aplasia of the nail.") AnnotationAssertion( "HP:0007593") AnnotationAssertion( "HP:0008384") -AnnotationAssertion( "MSH:C536377") AnnotationAssertion( "SNOMEDCT_US:23610003") AnnotationAssertion( "UMLS:C0265998") AnnotationAssertion(Annotation( ) "Absent nails") @@ -39213,7 +38684,6 @@ SubClassOf( ) "Detachment of the nail from the nail bed.") AnnotationAssertion(Annotation(rdfs:label "Onycholysis") "MEDDRA:10030337") -AnnotationAssertion( "MSH:D054039") AnnotationAssertion( "SNOMEDCT_US:75789001") AnnotationAssertion( "UMLS:C0085661") AnnotationAssertion(Annotation( ) Annotation( ) "Detachment of nail") @@ -39328,7 +38798,6 @@ SubClassOf( ) "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).") AnnotationAssertion(Annotation(rdfs:label "Paronychia") "MEDDRA:10034016") -AnnotationAssertion( "MSH:D010304") AnnotationAssertion( "SNOMEDCT_US:71906005") AnnotationAssertion( "UMLS:C0030578") AnnotationAssertion( "HP:0001818") @@ -39364,8 +38833,6 @@ SubClassOf( ) "Lateral deviation of the great toe (i.e., in the direction of the little toe).") AnnotationAssertion( "HP:0004682") -AnnotationAssertion( "MSH:D000071378") -AnnotationAssertion( "MSH:D006215") AnnotationAssertion( "SNOMEDCT_US:122480009") AnnotationAssertion( "SNOMEDCT_US:415692008") AnnotationAssertion( "UMLS:C0006386") @@ -39381,7 +38848,6 @@ SubClassOf( (Weight loss) AnnotationAssertion(Annotation( ) "Reduction of total body weight.") -AnnotationAssertion( "MSH:D015431") AnnotationAssertion( "SNOMEDCT_US:161832001") AnnotationAssertion( "SNOMEDCT_US:262285001") AnnotationAssertion( "SNOMEDCT_US:89362005") @@ -39525,8 +38991,6 @@ AnnotationAssertion( "HP:0004693") AnnotationAssertion( "HP:0010218") AnnotationAssertion(Annotation(rdfs:label "Vertical talus") "MEDDRA:10066242") -AnnotationAssertion( "MSH:C536345") -AnnotationAssertion( "MSH:D005413") AnnotationAssertion( "SNOMEDCT_US:205082007") AnnotationAssertion( "SNOMEDCT_US:205359003") AnnotationAssertion( "UMLS:C0240912") @@ -39564,7 +39028,6 @@ SubClassOf( ) Annotation( "PMID:19125433") "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.") AnnotationAssertion( "HP:0001768") AnnotationAssertion( "HP:0010217") -AnnotationAssertion( "MSH:D000070592") AnnotationAssertion( "SNOMEDCT_US:77599005") AnnotationAssertion( "UMLS:C0231791") AnnotationAssertion( "UMLS:C4082169") @@ -39584,7 +39047,6 @@ SubClassOf( ) Annotation( "PMID:19125433") "Duplication of all or part of the first ray.") AnnotationAssertion( "HP:0009607") AnnotationAssertion( "HP:0010050") -AnnotationAssertion( "MSH:C566632") AnnotationAssertion( "UMLS:C1866339") AnnotationAssertion( "UMLS:C2112942") AnnotationAssertion(Annotation( ) "Partial/complete duplication of the phalanges of the big toe") @@ -39834,7 +39296,6 @@ SubClassOf( ) "An abnormality of the hematopoietic system.") AnnotationAssertion( "HP:0003135") -AnnotationAssertion( "MSH:D006402") AnnotationAssertion( "SNOMEDCT_US:191124002") AnnotationAssertion( "SNOMEDCT_US:34093004") AnnotationAssertion( "UMLS:C0018939") @@ -39857,7 +39318,6 @@ SubClassOf( ) "An abnormality of platelets.") AnnotationAssertion( "HP:0004807") AnnotationAssertion( "HP:0005554") -AnnotationAssertion( "MSH:D013915") AnnotationAssertion( "SNOMEDCT_US:127566005") AnnotationAssertion( "SNOMEDCT_US:32942005") AnnotationAssertion( "UMLS:C0040015") @@ -39880,7 +39340,6 @@ AnnotationAssertion( "HP:0008175") AnnotationAssertion( "HP:0008268") AnnotationAssertion( "HP:0008302") -AnnotationAssertion( "MSH:D013921") AnnotationAssertion( "SNOMEDCT_US:302215000") AnnotationAssertion( "SNOMEDCT_US:415116008") AnnotationAssertion( "UMLS:C0040034") @@ -39926,7 +39385,6 @@ SubClassOf( (Pancytopenia) AnnotationAssertion(Annotation( ) "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).") -AnnotationAssertion( "MSH:D010198") AnnotationAssertion( "SNOMEDCT_US:127034005") AnnotationAssertion( "UMLS:C0030312") AnnotationAssertion(Annotation( ) Annotation( ) "Low blood cell count") @@ -39959,7 +39417,6 @@ AnnotationAssertion( "HP:0004853") AnnotationAssertion( "HP:0004868") AnnotationAssertion( "HP:0005503") -AnnotationAssertion( "MSH:D000743") AnnotationAssertion( "SNOMEDCT_US:61261009") AnnotationAssertion( "UMLS:C0002878") AnnotationAssertion(Annotation( ) "Haemolytic anaemia") @@ -39986,7 +39443,6 @@ SubClassOf( (Eosinophilia) AnnotationAssertion(Annotation( ) "Increased count of eosinophils in the blood.") -AnnotationAssertion( "MSH:D004802") AnnotationAssertion( "UMLS:C0014457") AnnotationAssertion(Annotation( ) Annotation( ) "High blood eosinophil count") AnnotationAssertion( "HP:0001880") @@ -40012,7 +39468,6 @@ SubClassOf( (Leukopenia) AnnotationAssertion(Annotation( ) "An abnormal decreased number of leukocytes in the blood.") -AnnotationAssertion( "MSH:D007970") AnnotationAssertion( "SNOMEDCT_US:84828003") AnnotationAssertion( "UMLS:C0023530") AnnotationAssertion(Annotation( ) Annotation( ) "Decreased blood leukocyte number") @@ -40025,7 +39480,6 @@ SubClassOf( (Talipes) AnnotationAssertion(Annotation( ) "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.") -AnnotationAssertion( "MSH:D000070558") AnnotationAssertion( "SNOMEDCT_US:398309008") AnnotationAssertion( "UMLS:C1301937") AnnotationAssertion( "UMLS:C3552713") @@ -40038,7 +39492,6 @@ SubClassOf( (Talipes calcaneovalgus) AnnotationAssertion(Annotation( ) "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.") -AnnotationAssertion( "MSH:D005413") AnnotationAssertion( "SNOMEDCT_US:205083002") AnnotationAssertion( "SNOMEDCT_US:31668003") AnnotationAssertion( "UMLS:C0152237") @@ -40070,7 +39523,6 @@ SubClassOf( (Lymphopenia) AnnotationAssertion(Annotation( ) "A reduced number of lymphocytes in the blood.") -AnnotationAssertion( "MSH:D008231") AnnotationAssertion( "SNOMEDCT_US:48813009") AnnotationAssertion( "UMLS:C0024312") AnnotationAssertion( "Absolute lymphocyte count decrease") @@ -40086,7 +39538,6 @@ SubClassOf( ) "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).") AnnotationAssertion( "HP:0004858") -AnnotationAssertion( "MSH:D000749") AnnotationAssertion( "SNOMEDCT_US:53165003") AnnotationAssertion( "UMLS:C0002888") AnnotationAssertion(Annotation( ) "Megaloblastic anaemia") @@ -40098,7 +39549,6 @@ SubClassOf( (Autoimmune hemolytic anemia) AnnotationAssertion(Annotation( ) "An autoimmune form of hemolytic anemia.") -AnnotationAssertion( "MSH:D000744") AnnotationAssertion( "SNOMEDCT_US:413603009") AnnotationAssertion( "UMLS:C0002880") AnnotationAssertion(Annotation( ) "Autoimmune haemolytic anaemia") @@ -40112,7 +39562,6 @@ SubClassOf( (Iron deficiency anemia) -AnnotationAssertion( "MSH:D018798") AnnotationAssertion( "SNOMEDCT_US:87522002") AnnotationAssertion( "UMLS:C0162316") AnnotationAssertion(Annotation( ) "Ferropenic") @@ -40147,7 +39596,6 @@ SubClassOf( (Thrombocytosis) AnnotationAssertion(Annotation( ) "Increased numbers of platelets in the peripheral blood.") -AnnotationAssertion( "MSH:D013922") AnnotationAssertion( "SNOMEDCT_US:415115007") AnnotationAssertion( "SNOMEDCT_US:6631009") AnnotationAssertion( "UMLS:C0836924") @@ -40232,7 +39680,6 @@ SubClassOf( ) "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.") AnnotationAssertion( "HP:0001893") -AnnotationAssertion( "MSH:D011086") AnnotationAssertion( "SNOMEDCT_US:109992005") AnnotationAssertion( "SNOMEDCT_US:127062003") AnnotationAssertion( "UMLS:C0032461") @@ -40263,7 +39710,6 @@ AnnotationAssertion(Annotation( "HP:0001926") AnnotationAssertion( "HP:0003136") AnnotationAssertion( "HP:0005509") -AnnotationAssertion( "MSH:D000740") AnnotationAssertion( "SNOMEDCT_US:165397008") AnnotationAssertion( "SNOMEDCT_US:271737000") AnnotationAssertion( "UMLS:C0002871") @@ -40304,8 +39750,6 @@ SubClassOf( (Thromboembolism) AnnotationAssertion(Annotation( ) "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.") -AnnotationAssertion( "MSH:D013923") -AnnotationAssertion( "MSH:D016769") AnnotationAssertion( "SNOMEDCT_US:13713005") AnnotationAssertion( "SNOMEDCT_US:371039008") AnnotationAssertion( "UMLS:C0040038") @@ -40321,7 +39765,6 @@ SubClassOf( (Hypoplastic anemia) AnnotationAssertion(Annotation( ) "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.") -AnnotationAssertion( "MSH:D000741") AnnotationAssertion( "SNOMEDCT_US:167923006") AnnotationAssertion( "SNOMEDCT_US:41614006") AnnotationAssertion( "UMLS:C0178416") @@ -40336,8 +39779,6 @@ AnnotationAssertion(Annotation( "HP:0005519") AnnotationAssertion( "HP:0006726") AnnotationAssertion(Annotation( ) Annotation( ) "Blood cancer") -AnnotationAssertion( "MSH:D007938") -AnnotationAssertion( "MSH:D019337") AnnotationAssertion( "SNOMEDCT_US:129154003") AnnotationAssertion( "SNOMEDCT_US:269475001") AnnotationAssertion( "SNOMEDCT_US:87163000") @@ -40376,7 +39817,6 @@ SubClassOf( (Granulocytopenia) AnnotationAssertion(Annotation( ) "An abnormally reduced number of granulocytes in the blood.") -AnnotationAssertion( "MSH:D000380") AnnotationAssertion( "SNOMEDCT_US:17182001") AnnotationAssertion( "SNOMEDCT_US:417672002") AnnotationAssertion( "UMLS:C0001824") @@ -40388,7 +39828,6 @@ SubClassOf( (Aplastic anemia) AnnotationAssertion(Annotation( ) Annotation( "PMID:21239768") "Aplastic anemia is defined as pancytopenia with a hypocellular marrow.") -AnnotationAssertion( "MSH:D000741") AnnotationAssertion( "SNOMEDCT_US:304132006") AnnotationAssertion( "SNOMEDCT_US:306058006") AnnotationAssertion( "UMLS:C0002874") @@ -40412,7 +39851,6 @@ SubClassOf( (Acute kidney injury) AnnotationAssertion(Annotation( ) "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).") -AnnotationAssertion( "MSH:D058186") AnnotationAssertion( "SNOMEDCT_US:14350001000004108") AnnotationAssertion( "SNOMEDCT_US:14669001") AnnotationAssertion( "UMLS:C0022660") @@ -40428,7 +39866,6 @@ SubClassOf( ) "The presence of stenosis of the renal artery.") AnnotationAssertion( "Fyler:2634") -AnnotationAssertion( "MSH:D012078") AnnotationAssertion( "SNOMEDCT_US:282664001") AnnotationAssertion( "SNOMEDCT_US:302233006") AnnotationAssertion( "UMLS:C0035067") @@ -40456,7 +39893,6 @@ SubClassOf( (Reticulocytosis) AnnotationAssertion(Annotation( ) "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.") -AnnotationAssertion( "MSH:D045262") AnnotationAssertion( "SNOMEDCT_US:46049004") AnnotationAssertion( "UMLS:C0206160") AnnotationAssertion(Annotation( ) Annotation( ) "Increased immature red blood cells") @@ -40472,7 +39908,6 @@ SubClassOf( ) "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).") AnnotationAssertion( "HP:0100791") -AnnotationAssertion( "MSH:D000756") AnnotationAssertion( "SNOMEDCT_US:41841004") AnnotationAssertion( "UMLS:C0002896") AnnotationAssertion(Annotation( ) "Hypersideremic anaemia") @@ -40499,8 +39934,6 @@ SubClassOf( (Abnormality of coagulation) AnnotationAssertion(Annotation( ) "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.") -AnnotationAssertion( "MSH:D001778") -AnnotationAssertion( "MSH:D006474") AnnotationAssertion( "SNOMEDCT_US:362970003") AnnotationAssertion( "SNOMEDCT_US:64779008") AnnotationAssertion( "UMLS:C0005779") @@ -40519,7 +39952,6 @@ SubClassOf( (Reduced factor XI activity) AnnotationAssertion(Annotation( ) "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.") -AnnotationAssertion( "MSH:D005173") AnnotationAssertion( "SNOMEDCT_US:49762007") AnnotationAssertion( "UMLS:C0015523") AnnotationAssertion( "Low factor XI activity") @@ -40539,7 +39971,6 @@ SubClassOf( (Hypochromic anemia) AnnotationAssertion(Annotation( ) "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.") -AnnotationAssertion( "MSH:D000747") AnnotationAssertion( "SNOMEDCT_US:44452003") AnnotationAssertion( "UMLS:C0002884") AnnotationAssertion( "Hypochromic anemia") @@ -40577,7 +40008,6 @@ SubClassOf( (Microcytic anemia) AnnotationAssertion(Annotation( ) "A kind of anemia in which the volume of the red blood cells is reduced.") -AnnotationAssertion( "MSH:C562385") AnnotationAssertion( "SNOMEDCT_US:234349007") AnnotationAssertion( "UMLS:C0085576") AnnotationAssertion(Annotation( ) "Microcytic anaemia") @@ -40588,7 +40018,6 @@ SubClassOf( (Microangiopathic hemolytic anemia) -AnnotationAssertion( "MSH:D000743") AnnotationAssertion( "SNOMEDCT_US:51071000") AnnotationAssertion( "UMLS:C0221021") AnnotationAssertion(Annotation( ) "Microangiopathic hemolytic anaemia") @@ -40613,7 +40042,6 @@ SubClassOf( ) Annotation( "PMID:24381489") "Abnormal acid accumulation or depletion of base.") AnnotationAssertion( "HP:0001940") -AnnotationAssertion( "MSH:D000138") AnnotationAssertion( "SNOMEDCT_US:51387008") AnnotationAssertion( "UMLS:C0001122") AnnotationAssertion( "HP:0001941") @@ -40626,7 +40054,6 @@ SubClassOf( ) Annotation( "PMID:17936961") Annotation( "PMID:31418093") "Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.") AnnotationAssertion( "HP:0004895") AnnotationAssertion( "HP:0004907") -AnnotationAssertion( "MSH:D000138") AnnotationAssertion( "SNOMEDCT_US:59455009") AnnotationAssertion( "UMLS:C0220981") AnnotationAssertion( "HP:0001942") @@ -40638,7 +40065,6 @@ SubClassOf( ) "A decreased concentration of glucose in the blood.") AnnotationAssertion( "HP:0003356") -AnnotationAssertion( "MSH:D007003") AnnotationAssertion( "SNOMEDCT_US:237630007") AnnotationAssertion( "SNOMEDCT_US:271327008") AnnotationAssertion( "SNOMEDCT_US:302866003") @@ -40652,7 +40078,6 @@ SubClassOf( (Dehydration) -AnnotationAssertion( "MSH:D003681") AnnotationAssertion( "SNOMEDCT_US:34095006") AnnotationAssertion( "UMLS:C0011175") AnnotationAssertion(Annotation( ) "Dehydration") @@ -40664,7 +40089,6 @@ SubClassOf( (Fever) AnnotationAssertion(Annotation( ) Annotation( "PMID:9759682") "Body temperature elevated above the normal range.") -AnnotationAssertion( "MSH:D005334") AnnotationAssertion( "SNOMEDCT_US:386661006") AnnotationAssertion( "SNOMEDCT_US:50177009") AnnotationAssertion( "UMLS:C0015967") @@ -40680,7 +40104,6 @@ SubClassOf( ) Annotation( "PMID:28278308") "Presence of elevated levels of ketone bodies in the body.") AnnotationAssertion( "HP:0003543") -AnnotationAssertion( "MSH:D007662") AnnotationAssertion( "SNOMEDCT_US:213281004") AnnotationAssertion( "SNOMEDCT_US:2538008") AnnotationAssertion( "UMLS:C0022638") @@ -40696,7 +40119,6 @@ SubClassOf( (Renal tubular acidosis) AnnotationAssertion(Annotation( ) "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.") -AnnotationAssertion( "MSH:D000141") AnnotationAssertion( "SNOMEDCT_US:1776003") AnnotationAssertion( "UMLS:C0001126") AnnotationAssertion(Annotation( ) Annotation( ) "Accumulation of acid in body due to kidney problem") @@ -40708,7 +40130,6 @@ SubClassOf( (Alkalosis) AnnotationAssertion(Annotation( ) Annotation( "PMID:24381489") "Depletion of acid or accumulation base in the body fluids.") -AnnotationAssertion( "MSH:D000471") AnnotationAssertion( "SNOMEDCT_US:21420006") AnnotationAssertion( "UMLS:C0002063") AnnotationAssertion( "HP:0001948") @@ -40727,7 +40148,6 @@ SubClassOf( (Respiratory alkalosis) AnnotationAssertion(Annotation( ) "Alkalosis due to excess loss of carbon dioxide from the body.") -AnnotationAssertion( "MSH:D000472") AnnotationAssertion( "SNOMEDCT_US:111378004") AnnotationAssertion( "UMLS:C0002064") AnnotationAssertion( "HP:0001950") @@ -40757,7 +40177,6 @@ SubClassOf( ) "A type of diabetic metabolic abnormality with an accumulation of ketone bodies.") AnnotationAssertion( "HP:0008253") -AnnotationAssertion( "MSH:D016883") AnnotationAssertion( "SNOMEDCT_US:420422005") AnnotationAssertion( "UMLS:C0011880") AnnotationAssertion( "Diabetic ketosis") @@ -40796,7 +40215,6 @@ SubClassOf( ) "Obesity located preferentially in the trunk of the body as opposed to the extremities.") AnnotationAssertion( "HP:0008885") -AnnotationAssertion( "MSH:D056128") AnnotationAssertion( "SNOMEDCT_US:248311001") AnnotationAssertion( "UMLS:C0311277") AnnotationAssertion( "Centripetal obesity") @@ -40816,7 +40234,6 @@ SubClassOf( (Polydipsia) AnnotationAssertion( "Excessive thirst manifested by excessive fluid intake.") -AnnotationAssertion( "MSH:D059606") AnnotationAssertion( "SNOMEDCT_US:17173007") AnnotationAssertion( "SNOMEDCT_US:267026004") AnnotationAssertion( "UMLS:C0085602") @@ -40913,7 +40330,6 @@ SubClassOf( ) "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.") AnnotationAssertion( "HP:0004728") -AnnotationAssertion( "MSH:C537346") AnnotationAssertion( "SNOMEDCT_US:111406002") AnnotationAssertion( "UMLS:C0268747") AnnotationAssertion( "Diffuse mesangial sclerosis glomerulopathy") @@ -40927,7 +40343,6 @@ SubClassOf( ) "An abnormality that involves the tubules and interstitial tissue of the kidney.") AnnotationAssertion( "HP:0008654") -AnnotationAssertion( "MSH:D009395") AnnotationAssertion( "SNOMEDCT_US:28689008") AnnotationAssertion( "SNOMEDCT_US:428255004") AnnotationAssertion( "UMLS:C0041349") @@ -40942,7 +40357,6 @@ SubClassOf( (Tubulointerstitial nephritis) AnnotationAssertion(Annotation( ) "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.") -AnnotationAssertion( "MSH:D009395") AnnotationAssertion( "SNOMEDCT_US:28689008") AnnotationAssertion( "SNOMEDCT_US:428255004") AnnotationAssertion( "UMLS:C0041349") @@ -40955,7 +40369,6 @@ SubClassOf( (Hypersplenism) AnnotationAssertion(Annotation( ) "A malfunctioning of the spleen in which it prematurely destroys red blood cells.") -AnnotationAssertion( "MSH:D006971") AnnotationAssertion( "SNOMEDCT_US:58381000") AnnotationAssertion( "UMLS:C0020532") AnnotationAssertion( "HP:0001971") @@ -40966,7 +40379,6 @@ SubClassOf( (Macrocytic anemia) AnnotationAssertion(Annotation( ) Annotation( "PMID:19202968") "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).") -AnnotationAssertion( "MSH:D000748") AnnotationAssertion( "SNOMEDCT_US:83414005") AnnotationAssertion( "UMLS:C0002886") AnnotationAssertion(Annotation( ) "Macrocytic anaemia") @@ -40981,7 +40393,6 @@ AnnotationAssertion(Annotation( "HP:0001936") AnnotationAssertion( "HP:0004806") AnnotationAssertion( "HP:0004829") -AnnotationAssertion( "MSH:D016553") AnnotationAssertion( "SNOMEDCT_US:128091003") AnnotationAssertion( "SNOMEDCT_US:13172003") AnnotationAssertion( "SNOMEDCT_US:234490009") @@ -41001,7 +40412,6 @@ SubClassOf( (Leukocytosis) AnnotationAssertion(Annotation( ) "An abnormal increase in the number of leukocytes in the blood.") -AnnotationAssertion( "MSH:D007964") AnnotationAssertion( "SNOMEDCT_US:111583006") AnnotationAssertion( "UMLS:C0023518") AnnotationAssertion(Annotation( ) "Elevated white blood count") @@ -41015,7 +40425,6 @@ SubClassOf( (Decreased platelet glycoprotein IIb-IIIa) AnnotationAssertion(Annotation( ) "Decreased cell membrane concentration of glycoprotein IIb-IIIa.") -AnnotationAssertion( "MSH:D013915") AnnotationAssertion( "SNOMEDCT_US:32942005") AnnotationAssertion( "UMLS:C0040015") AnnotationAssertion( "UMLS:C4021767") @@ -41029,7 +40438,6 @@ SubClassOf( (Reduced antithrombin III activity) AnnotationAssertion(Annotation( ) "An abnormality of coagulation related to a decreased concentration of antithrombin-III.") -AnnotationAssertion( "MSH:D020152") AnnotationAssertion( "SNOMEDCT_US:36351005") AnnotationAssertion( "UMLS:C0272375") AnnotationAssertion( "Anti-thrombin III deficiency") @@ -41089,7 +40497,6 @@ SubClassOf( (Sea-blue histiocytosis) AnnotationAssertion(Annotation( ) Annotation( "PMID:8797061") "An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.") -AnnotationAssertion( "MSH:D012618") AnnotationAssertion( "SNOMEDCT_US:37821003") AnnotationAssertion( "UMLS:C0036489") AnnotationAssertion( "Sea-blue histiocyte") @@ -41139,7 +40546,6 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of ammonia in the blood.") AnnotationAssertion( "HP:0008308") AnnotationAssertion( "HP:0008334") -AnnotationAssertion( "MSH:D022124") AnnotationAssertion( "SNOMEDCT_US:9360008") AnnotationAssertion( "UMLS:C0220994") AnnotationAssertion(Annotation( ) Annotation( ) "High blood ammonia levels") @@ -41166,7 +40572,6 @@ SubClassOf( (Fetal akinesia sequence) AnnotationAssertion(Annotation( ) "Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).") -AnnotationAssertion( "MSH:C536647") AnnotationAssertion( "SNOMEDCT_US:401138005") AnnotationAssertion( "UMLS:C1276035") AnnotationAssertion( "UMLS:C3151520") @@ -41217,7 +40622,6 @@ SubClassOf( (Renal Fanconi syndrome) AnnotationAssertion(Annotation( ) "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.") -AnnotationAssertion( "MSH:D005198") AnnotationAssertion( "SNOMEDCT_US:236468006") AnnotationAssertion( "SNOMEDCT_US:44673006") AnnotationAssertion( "UMLS:C0341703") @@ -41251,8 +40655,6 @@ SubClassOf( ) "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.") AnnotationAssertion( "HP:0001368") -AnnotationAssertion( "MSH:D006073") -AnnotationAssertion( "MSH:D015210") AnnotationAssertion( "SNOMEDCT_US:170733007") AnnotationAssertion( "SNOMEDCT_US:190828008") AnnotationAssertion( "SNOMEDCT_US:48440001") @@ -41431,7 +40833,6 @@ AnnotationAssertion( "HP:0002413") AnnotationAssertion( "HP:0002481") AnnotationAssertion( "HP:0007319") -AnnotationAssertion( "MSH:D002493") AnnotationAssertion( "SNOMEDCT_US:23853001") AnnotationAssertion( "UMLS:C0007682") AnnotationAssertion( "UMLS:C4021765") @@ -41459,7 +40860,6 @@ SubClassOf( ) "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.") AnnotationAssertion(Annotation(rdfs:label "Vomiting") "MEDDRA:10047700") -AnnotationAssertion( "MSH:D014839") AnnotationAssertion( "SNOMEDCT_US:249497008") AnnotationAssertion( "SNOMEDCT_US:300359004") AnnotationAssertion( "SNOMEDCT_US:422400008") @@ -41475,7 +40875,6 @@ SubClassOf( (Diarrhea) AnnotationAssertion(Annotation( ) "Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.") -AnnotationAssertion( "MSH:D003967") AnnotationAssertion( "SNOMEDCT_US:267060006") AnnotationAssertion( "SNOMEDCT_US:62315008") AnnotationAssertion( "UMLS:C0011991") @@ -41492,7 +40891,6 @@ SubClassOf( ) "Difficulty in swallowing.") AnnotationAssertion( "HP:0002569") AnnotationAssertion(Annotation(rdfs:label "Dysphagia") "MEDDRA:10013950") -AnnotationAssertion( "MSH:D003680") AnnotationAssertion( "SNOMEDCT_US:288939007") AnnotationAssertion( "SNOMEDCT_US:40739000") AnnotationAssertion( "UMLS:C0011168") @@ -41521,7 +40919,6 @@ SubClassOf( ) Annotation( "PMID:26770271") "A sensation of unease in the stomach together with an urge to vomit.") AnnotationAssertion(Annotation(rdfs:label "Nausea") "MEDDRA:10028813") -AnnotationAssertion( "MSH:D009325") AnnotationAssertion( "SNOMEDCT_US:422587007") AnnotationAssertion( "UMLS:C0027497") AnnotationAssertion(Annotation( ) "Nausea") @@ -41535,7 +40932,6 @@ SubClassOf( ) "Infrequent or difficult evacuation of feces.") AnnotationAssertion( "HP:0002241") AnnotationAssertion( "HP:0003786") -AnnotationAssertion( "MSH:D003248") AnnotationAssertion( "SNOMEDCT_US:14760008") AnnotationAssertion( "SNOMEDCT_US:225595004") AnnotationAssertion( "UMLS:C0009806") @@ -41552,8 +40948,6 @@ SubClassOf( ) "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.") AnnotationAssertion( "HP:0004793") -AnnotationAssertion( "MSH:D005764") -AnnotationAssertion( "MSH:D006356") AnnotationAssertion( "SNOMEDCT_US:16331000") AnnotationAssertion( "SNOMEDCT_US:235595009") AnnotationAssertion( "SNOMEDCT_US:698065002") @@ -41576,7 +40970,6 @@ SubClassOf( ) Annotation( "PMID:32310391") "Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.") AnnotationAssertion( "Fyler:4444") AnnotationAssertion(Annotation(rdfs:label "Pyloric stenosis") "MEDDRA:10037621") -AnnotationAssertion( "MSH:D011707") AnnotationAssertion( "SNOMEDCT_US:367403001") AnnotationAssertion( "UMLS:C0034194") AnnotationAssertion( "Infantile hypertrophic pyloric stenosis") @@ -41595,7 +40988,6 @@ AnnotationAssertion( "Fyler:4402") AnnotationAssertion( "Fyler:4443") AnnotationAssertion(Annotation(rdfs:label "Anal atresia") "MEDDRA:10002120") -AnnotationAssertion( "MSH:D001006") AnnotationAssertion( "SNOMEDCT_US:204712000") AnnotationAssertion( "SNOMEDCT_US:204731006") AnnotationAssertion( "UMLS:C0003466") @@ -41639,7 +41031,6 @@ AnnotationAssertion(Annotation( ) "Gastro pain") AnnotationAssertion(Annotation( ) "Gastrointestinal pain") AnnotationAssertion(Annotation(rdfs:label "Abdominal pain") "MEDDRA:10000081") -AnnotationAssertion( "MSH:D015746") AnnotationAssertion( "SNOMEDCT_US:21522001") AnnotationAssertion( "UMLS:C0000737") AnnotationAssertion(Annotation( ) "Abdominal pain") @@ -41687,7 +41078,6 @@ SubClassOf( ) "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.") AnnotationAssertion( "Fyler:4412") -AnnotationAssertion( "MSH:D004933") AnnotationAssertion( "SNOMEDCT_US:26179002") AnnotationAssertion( "UMLS:C0014850") AnnotationAssertion(Annotation( ) Annotation( ) "Birth defect in which part of esophagus did not develop") @@ -41727,7 +41117,6 @@ SubClassOf( ) "Protrusion of the rectal mucous membrane through the anus.") AnnotationAssertion(Annotation(rdfs:label "Rectal prolapse") "MEDDRA:10038077") -AnnotationAssertion( "MSH:D012005") AnnotationAssertion( "SNOMEDCT_US:57773001") AnnotationAssertion( "UMLS:C0034888") AnnotationAssertion(Annotation( ) Annotation( ) "Rectum protrudes through anus") @@ -41744,7 +41133,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-02-20T11:28:00Z") AnnotationAssertion(Annotation(rdfs:label "Hiatus hernia") "MEDDRA:10020028") -AnnotationAssertion( "MSH:D006551") AnnotationAssertion( "SNOMEDCT_US:84089009") AnnotationAssertion( "UMLS:C3489393") AnnotationAssertion( "Hiatal hernia") @@ -41760,7 +41148,6 @@ SubClassOf( (Inflammation of the large intestine) AnnotationAssertion( "Inflammation, or an inflammatory state in the large intestine.") -AnnotationAssertion( "MSH:D015212") AnnotationAssertion( "SNOMEDCT_US:24526004") AnnotationAssertion( "SNOMEDCT_US:302168000") AnnotationAssertion( "UMLS:C0021390") @@ -41790,7 +41177,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D000855") AnnotationAssertion( "SNOMEDCT_US:79890006") AnnotationAssertion( "UMLS:C0003123") AnnotationAssertion(Annotation( ) "Anorexia") @@ -41808,7 +41194,6 @@ SubClassOf( ) "Extreme dilation of the submucusoal veins in the lower portion of the esophagus.") AnnotationAssertion(Annotation(rdfs:label "Varices oesophageal") "MEDDRA:10056091") -AnnotationAssertion( "MSH:D004932") AnnotationAssertion( "SNOMEDCT_US:28670008") AnnotationAssertion( "UMLS:C0014867") AnnotationAssertion(Annotation( ) Annotation( ) "Enlarged vein in esophagus") @@ -41831,7 +41216,6 @@ SubClassOf( (Esophageal stricture) AnnotationAssertion(Annotation( ) "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.") -AnnotationAssertion( "MSH:D004940") AnnotationAssertion( "SNOMEDCT_US:63305008") AnnotationAssertion( "UMLS:C0014866") AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of esophagus due to inflammation and scar tissue") @@ -41845,7 +41229,6 @@ SubClassOf( ) "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.") AnnotationAssertion(Annotation(rdfs:label "Zollinger-Ellison syndrome") "MEDDRA:10048281") -AnnotationAssertion( "MSH:D015043") AnnotationAssertion( "SNOMEDCT_US:53132006") AnnotationAssertion( "UMLS:C0043515") AnnotationAssertion( "HP:0002044") @@ -41857,7 +41240,6 @@ SubClassOf( (Hypothermia) AnnotationAssertion(Annotation( ) "Reduced body temperature due to failed thermoregulation.") -AnnotationAssertion( "MSH:D007035") AnnotationAssertion( "SNOMEDCT_US:386689009") AnnotationAssertion( "UMLS:C0020672") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormally low body temperature") @@ -41884,7 +41266,6 @@ SubClassOf( ) "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.") AnnotationAssertion( "HP:0004896") -AnnotationAssertion( "MSH:D008305") AnnotationAssertion( "SNOMEDCT_US:213026003") AnnotationAssertion( "SNOMEDCT_US:405501007") AnnotationAssertion( "UMLS:C0024591") @@ -41905,7 +41286,6 @@ SubClassOf( (Proximal renal tubular acidosis) AnnotationAssertion(Annotation( ) "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.") -AnnotationAssertion( "MSH:D000141") AnnotationAssertion( "SNOMEDCT_US:24790002") AnnotationAssertion( "UMLS:C0268435") AnnotationAssertion( "Proximal tubular acidosis") @@ -42036,7 +41416,6 @@ SubClassOf( (Rigidity) AnnotationAssertion(Annotation( ) "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.") -AnnotationAssertion( "MSH:D009127") AnnotationAssertion( "SNOMEDCT_US:16046003") AnnotationAssertion( "UMLS:C0026837") AnnotationAssertion(Annotation( ) "Muscle rigidity") @@ -42049,7 +41428,6 @@ SubClassOf( (Spastic gait) AnnotationAssertion(Annotation( "PMID:25649546") "Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.") -AnnotationAssertion( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:9447003") AnnotationAssertion( "UMLS:C0231687") AnnotationAssertion(Annotation( ) Annotation( ) "Spastic walk") @@ -42062,7 +41440,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:UKT_rschuele") "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.") AnnotationAssertion( "HP:0002379") -AnnotationAssertion( "MSH:D020234") AnnotationAssertion( "SNOMEDCT_US:25136009") AnnotationAssertion( "UMLS:C0751837") AnnotationAssertion( "Ataxia of gait") @@ -42076,7 +41453,6 @@ SubClassOf( (Bradykinesia) AnnotationAssertion(Annotation( ) "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).") -AnnotationAssertion( "MSH:D018476") AnnotationAssertion( "SNOMEDCT_US:399317006") AnnotationAssertion( "UMLS:C0233565") AnnotationAssertion(Annotation( ) Annotation( ) "Slow movements") @@ -42098,7 +41474,6 @@ AnnotationAssertion(Annotation( "HP:0001306") AnnotationAssertion( "HP:0002407") AnnotationAssertion( "HP:0007252") -AnnotationAssertion( "MSH:D012640") AnnotationAssertion( "SNOMEDCT_US:54200006") AnnotationAssertion( "UMLS:C0494475") AnnotationAssertion( "Bilateral convulsive seizures") @@ -42119,7 +41494,6 @@ SubClassOf( (Limb ataxia) AnnotationAssertion(Annotation( ) "A kind of ataxia that affects movements of the extremities.") -AnnotationAssertion( "MSH:D001259") AnnotationAssertion( "UMLS:C0750937") AnnotationAssertion( "Appendicular ataxia") AnnotationAssertion( "HP:0002070") @@ -42133,7 +41507,6 @@ SubClassOf( ) "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).") AnnotationAssertion( "HP:0006810") AnnotationAssertion( "HP:0007113") -AnnotationAssertion( "MSH:D001480") AnnotationAssertion( "SNOMEDCT_US:43378000") AnnotationAssertion( "SNOMEDCT_US:76349003") AnnotationAssertion( "UMLS:C0015371") @@ -42152,7 +41525,6 @@ SubClassOf( ) Annotation( "PMID:20589866") "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.") AnnotationAssertion( "HP:0002397") -AnnotationAssertion( "MSH:D002819") AnnotationAssertion( "SNOMEDCT_US:271700006") AnnotationAssertion( "UMLS:C0008489") AnnotationAssertion( "UMLS:C4020858") @@ -42204,7 +41576,6 @@ SubClassOf( ) Annotation( "PMID:15304572") "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.") AnnotationAssertion( "HP:0007194") -AnnotationAssertion( "MSH:D008881") AnnotationAssertion( "SNOMEDCT_US:37796009") AnnotationAssertion( "UMLS:C0149931") AnnotationAssertion( "UMLS:C0744641") @@ -42219,7 +41590,6 @@ SubClassOf( (Migraine with aura) AnnotationAssertion(Annotation( ) Annotation( "PMID:15304572") "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.") -AnnotationAssertion( "MSH:D020325") AnnotationAssertion( "SNOMEDCT_US:4473006") AnnotationAssertion( "UMLS:C0154723") AnnotationAssertion( "HP:0002077") @@ -42230,7 +41600,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:UKT_rschuele") "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.") AnnotationAssertion( "HP:0007014") -AnnotationAssertion( "MSH:D001259") AnnotationAssertion( "SNOMEDCT_US:250067008") AnnotationAssertion( "UMLS:C0427190") AnnotationAssertion(Annotation( ) Annotation( ) "Instability or lack of coordination of central trunk muscles") @@ -42261,7 +41630,6 @@ SubClassOf( (Intention tremor) AnnotationAssertion(Annotation( ) Annotation( "PMID:16344298") "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).") -AnnotationAssertion( "MSH:D014202") AnnotationAssertion( "SNOMEDCT_US:30721006") AnnotationAssertion( "UMLS:C0234376") AnnotationAssertion( "UMLS:C4020856") @@ -42274,7 +41642,6 @@ SubClassOf( (Migraine without aura) AnnotationAssertion(Annotation( ) Annotation( "PMID:15304572") "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.") -AnnotationAssertion( "MSH:D020326") AnnotationAssertion( "SNOMEDCT_US:56097005") AnnotationAssertion( "UMLS:C0338480") AnnotationAssertion( "HP:0002083") @@ -42287,7 +41654,6 @@ SubClassOf( ) "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.") AnnotationAssertion( "HP:0002736") AnnotationAssertion( "HP:0100664") -AnnotationAssertion( "MSH:D004677") AnnotationAssertion( "SNOMEDCT_US:253101008") AnnotationAssertion( "SNOMEDCT_US:48777005") AnnotationAssertion( "SNOMEDCT_US:55999004") @@ -42307,7 +41673,6 @@ SubClassOf( ) Annotation( ) "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.") AnnotationAssertion( "HP:0007051") AnnotationAssertion( "HP:0007357") -AnnotationAssertion( "MSH:D004677") AnnotationAssertion( "SNOMEDCT_US:42376006") AnnotationAssertion( "UMLS:C0014067") AnnotationAssertion(Annotation( ) Annotation( ) "Brain tissue sticks out through back of skull") @@ -42342,7 +41707,6 @@ SubClassOf( (Abnormal lung morphology) AnnotationAssertion(Annotation( ) "Any structural anomaly of the lung.") -AnnotationAssertion( "MSH:D008171") AnnotationAssertion( "SNOMEDCT_US:19829001") AnnotationAssertion( "UMLS:C0024115") AnnotationAssertion( "UMLS:C4021760") @@ -42374,7 +41738,6 @@ SubClassOf( (Pneumonia) AnnotationAssertion(Annotation( ) "Inflammation of any part of the lung parenchyma.") -AnnotationAssertion( "MSH:D011014") AnnotationAssertion( "SNOMEDCT_US:233604007") AnnotationAssertion( "UMLS:C0032285") AnnotationAssertion(Annotation( ) "Pneumonia") @@ -42409,8 +41772,6 @@ SubClassOf( ) "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.") AnnotationAssertion( "HP:0006546") -AnnotationAssertion( "MSH:D006976") -AnnotationAssertion( "MSH:D065627") AnnotationAssertion( "SNOMEDCT_US:11399002") AnnotationAssertion( "SNOMEDCT_US:697898008") AnnotationAssertion( "SNOMEDCT_US:70995007") @@ -42431,7 +41792,6 @@ SubClassOf( "HP:0004893") AnnotationAssertion( "HP:0005937") AnnotationAssertion( "HP:0006542") -AnnotationAssertion( "MSH:D012131") AnnotationAssertion( "SNOMEDCT_US:409623005") AnnotationAssertion( "UMLS:C0035229") AnnotationAssertion( "UMLS:C4020855") @@ -42445,7 +41805,6 @@ SubClassOf( (Dyspnea) AnnotationAssertion(Annotation( ) Annotation( "PMID:16914301") "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.") -AnnotationAssertion( "MSH:D004417") AnnotationAssertion( "SNOMEDCT_US:230145002") AnnotationAssertion( "SNOMEDCT_US:267036007") AnnotationAssertion( "UMLS:C0013404") @@ -42464,7 +41823,6 @@ SubClassOf( (Emphysema) AnnotationAssertion( "HP:0006534") -AnnotationAssertion( "MSH:D011656") AnnotationAssertion( "SNOMEDCT_US:87433001") AnnotationAssertion( "UMLS:C0034067") AnnotationAssertion( "Pulmonary emphysema") @@ -42477,7 +41835,6 @@ SubClassOf( "Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.") AnnotationAssertion( "HP:0002880") -AnnotationAssertion( "MSH:D004417") AnnotationAssertion( "SNOMEDCT_US:230145002") AnnotationAssertion( "SNOMEDCT_US:267036007") AnnotationAssertion( "SNOMEDCT_US:271825005") @@ -42495,7 +41852,6 @@ SubClassOf( ) "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.") AnnotationAssertion( "HP:0002112") -AnnotationAssertion( "MSH:D001249") AnnotationAssertion( "SNOMEDCT_US:195967001") AnnotationAssertion( "SNOMEDCT_US:991000119106") AnnotationAssertion( "UMLS:C0004096") @@ -42537,7 +41893,6 @@ SubClassOf( (Pleuritis) AnnotationAssertion(Annotation( ) "Inflammation of the pleura.") -AnnotationAssertion( "MSH:D010998") AnnotationAssertion( "SNOMEDCT_US:196075003") AnnotationAssertion( "UMLS:C0032231") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of tissues lining lungs and chest") @@ -42561,7 +41916,6 @@ SubClassOf( ) "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.") AnnotationAssertion( "HP:0005936") AnnotationAssertion( "HP:0005958") -AnnotationAssertion( "MSH:D001049") AnnotationAssertion( "SNOMEDCT_US:1023001") AnnotationAssertion( "SNOMEDCT_US:248583008") AnnotationAssertion( "UMLS:C0003578") @@ -42576,7 +41930,6 @@ SubClassOf( (Hemoptysis) AnnotationAssertion(Annotation( ) "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.") -AnnotationAssertion( "MSH:D006469") AnnotationAssertion( "SNOMEDCT_US:66857006") AnnotationAssertion( "SNOMEDCT_US:6686005") AnnotationAssertion( "UMLS:C0019079") @@ -42590,7 +41943,6 @@ SubClassOf( (Pneumothorax) AnnotationAssertion(Annotation( ) "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.") -AnnotationAssertion( "MSH:D011030") AnnotationAssertion( "SNOMEDCT_US:36118008") AnnotationAssertion( "UMLS:C0032326") AnnotationAssertion(Annotation( ) Annotation( ) "Collapsed lung") @@ -42601,7 +41953,6 @@ SubClassOf( (Spontaneous pneumothorax) AnnotationAssertion(Annotation( ) "Pneumothorax occurring without traumatic injury to the chest or lung.") -AnnotationAssertion( "MSH:D011030") AnnotationAssertion( "SNOMEDCT_US:80423007") AnnotationAssertion( "UMLS:C0149781") AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous collapsed lung") @@ -42619,7 +41970,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Bronchiectasis) AnnotationAssertion(Annotation( ) "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.") -AnnotationAssertion( "MSH:D001987") AnnotationAssertion( "SNOMEDCT_US:12295008") AnnotationAssertion( "UMLS:C0006267") AnnotationAssertion(Annotation( ) Annotation( ) "Permanent enlargement of the airways of the lungs") @@ -42696,7 +42046,6 @@ SubClassOf( ) Annotation( "PMID:28276060") Annotation( "PMID:28276062") Annotation( "PMID:28276064") "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.") AnnotationAssertion( "HP:0007143") AnnotationAssertion( "HP:0011148") -AnnotationAssertion( "MSH:D004832") AnnotationAssertion( "SNOMEDCT_US:230413002") AnnotationAssertion( "SNOMEDCT_US:432241000124101") AnnotationAssertion( "SNOMEDCT_US:50866000") @@ -42726,8 +42075,6 @@ AnnotationAssertion( "HP:0007202") AnnotationAssertion( "HP:0007284") AnnotationAssertion( "HP:0007294") -AnnotationAssertion( "MSH:D004831") -AnnotationAssertion( "MSH:D020191") AnnotationAssertion( "SNOMEDCT_US:192992007") AnnotationAssertion( "SNOMEDCT_US:267581004") AnnotationAssertion( "SNOMEDCT_US:37356005") @@ -42749,7 +42096,6 @@ SubClassOf( (Polymicrogyria) AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "PMID:24888723") "Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).") -AnnotationAssertion( "MSH:D065706") AnnotationAssertion( "SNOMEDCT_US:4945003") AnnotationAssertion( "UMLS:C0266464") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "More grooves in brain") @@ -42774,7 +42120,6 @@ AnnotationAssertion(Annotation( "HP:0006862") AnnotationAssertion( "HP:0007152") AnnotationAssertion( "HP:0007214") -AnnotationAssertion( "MSH:C580065") AnnotationAssertion( "SNOMEDCT_US:421455009") AnnotationAssertion( "UMLS:C1720189") AnnotationAssertion( "Intermittent cerebellar ataxia") @@ -42786,7 +42131,6 @@ SubClassOf( (Porencephalic cyst) AnnotationAssertion(Annotation( ) Annotation( "PMID:9279052") "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.") -AnnotationAssertion( "MSH:D065708") AnnotationAssertion( "UMLS:C4082173") AnnotationAssertion(Annotation( ) Annotation( ) "Cavity within brain") AnnotationAssertion( "HP:0002132") @@ -42797,7 +42141,6 @@ SubClassOf( (Status epilepticus) AnnotationAssertion(Annotation( ) Annotation( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:26336950") Annotation( "PMID:28276060") "Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.") -AnnotationAssertion( "MSH:D013226") AnnotationAssertion( "SNOMEDCT_US:230456007") AnnotationAssertion( "UMLS:C0038220") AnnotationAssertion( "Prolonged seizure") @@ -42813,7 +42156,6 @@ SubClassOf( ) "Abnormality of the basal ganglia.") AnnotationAssertion( "HP:0006952") AnnotationAssertion( "HP:0007257") -AnnotationAssertion( "MSH:D001480") AnnotationAssertion( "SNOMEDCT_US:70835005") AnnotationAssertion( "UMLS:C0004782") AnnotationAssertion( "Abnormality of the basal ganglia") @@ -42854,7 +42196,6 @@ SubClassOf( (Subarachnoid hemorrhage) AnnotationAssertion(Annotation( ) "Hemorrhage occurring between the arachnoid mater and the pia mater.") -AnnotationAssertion( "MSH:D013345") AnnotationAssertion( "SNOMEDCT_US:21454007") AnnotationAssertion( "UMLS:C0038525") AnnotationAssertion( "Subarachnoid hemorrhage") @@ -42867,7 +42208,6 @@ SubClassOf( (Arrhinencephaly) AnnotationAssertion( "A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.") -AnnotationAssertion( "MSH:D016142") AnnotationAssertion( "UMLS:C0078982") AnnotationAssertion( "Arhinencephaly") AnnotationAssertion( "HP:0002139") @@ -42900,7 +42240,6 @@ SubClassOf( (Abnormal spinal cord morphology) AnnotationAssertion(Annotation( ) "A structural abnormality of the spinal cord (myelon).") -AnnotationAssertion( "MSH:D013118") AnnotationAssertion( "SNOMEDCT_US:48522003") AnnotationAssertion( "UMLS:C0037928") AnnotationAssertion( "UMLS:C4025722") @@ -42915,7 +42254,6 @@ SubClassOf( (Tethered cord) AnnotationAssertion(Annotation( ) "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.") -AnnotationAssertion( "MSH:D009436") AnnotationAssertion( "SNOMEDCT_US:70534000") AnnotationAssertion( "UMLS:C0080218") AnnotationAssertion(Annotation( ) "Occult spinal dysraphism") @@ -42926,7 +42264,6 @@ SubClassOf( (Frontotemporal dementia) AnnotationAssertion(Annotation( ) Annotation( "PMID:24966676") "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.") -AnnotationAssertion( "MSH:D057180") AnnotationAssertion( "SNOMEDCT_US:230270009") AnnotationAssertion( "UMLS:C0338451") AnnotationAssertion( "HP:0002145") @@ -42936,7 +42273,6 @@ SubClassOf( (Hypophosphatemia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An abnormally decreased phosphate concentration in the blood.") -AnnotationAssertion( "MSH:D017674") AnnotationAssertion( "SNOMEDCT_US:4996001") AnnotationAssertion( "UMLS:C0085682") AnnotationAssertion( "Hypophosphataemia") @@ -42949,7 +42285,6 @@ SubClassOf( (Hyperuricemia) AnnotationAssertion(Annotation( ) "An abnormally high level of uric acid in the blood.") -AnnotationAssertion( "MSH:D033461") AnnotationAssertion( "SNOMEDCT_US:35885006") AnnotationAssertion( "UMLS:C0740394") AnnotationAssertion(Annotation( ) Annotation( ) "High blood uric acid level") @@ -42962,7 +42297,6 @@ SubClassOf( (Hypercalciuria) -AnnotationAssertion( "MSH:D053565") AnnotationAssertion( "SNOMEDCT_US:71938000") AnnotationAssertion( "UMLS:C0020438") AnnotationAssertion(Annotation( ) Annotation( ) "Elevated urine calcium levels") @@ -42998,7 +42332,6 @@ SubClassOf( (Hyperkalemia) AnnotationAssertion(Annotation( ) "An abnormally increased potassium concentration in the blood.") -AnnotationAssertion( "MSH:D006947") AnnotationAssertion( "SNOMEDCT_US:14140009") AnnotationAssertion( "SNOMEDCT_US:166689004") AnnotationAssertion( "SNOMEDCT_US:238142003") @@ -43042,7 +42375,6 @@ SubClassOf( (Homocystinuria) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of homocystine in the urine.") -AnnotationAssertion( "MSH:D006712") AnnotationAssertion( "SNOMEDCT_US:11282001") AnnotationAssertion( "UMLS:C0019880") AnnotationAssertion(Annotation( ) Annotation( ) "High urine homocystine levels") @@ -43055,7 +42387,6 @@ SubClassOf( (Azotemia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of nitrogen compounds in the blood.") -AnnotationAssertion( "MSH:D053099") AnnotationAssertion( "SNOMEDCT_US:445009001") AnnotationAssertion( "UMLS:C0242528") AnnotationAssertion( "Azotaemia") @@ -43090,7 +42421,6 @@ SubClassOf( (Hyperlysinemia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") Annotation( "PMID:4696900") "An increased concentration of lysine in the blood.") -AnnotationAssertion( "MSH:D020167") AnnotationAssertion( "SNOMEDCT_US:58558003") AnnotationAssertion( "UMLS:C0268553") AnnotationAssertion(Annotation( ) Annotation( ) "Elevated blood lysine") @@ -43165,7 +42495,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D013064") AnnotationAssertion( "UMLS:C0037822") AnnotationAssertion( "Abnormal speech") AnnotationAssertion(Annotation( ) "Abnormal vocalisation") @@ -43202,7 +42531,6 @@ SubClassOf( (Intracranial hemorrhage) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "Hemorrhage occurring within the skull.") -AnnotationAssertion( "MSH:D020300") AnnotationAssertion( "SNOMEDCT_US:1386000") AnnotationAssertion( "UMLS:C0151699") AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding within the skull") @@ -43216,7 +42544,6 @@ SubClassOf( (Gliosis) AnnotationAssertion(Annotation( ) "Gliosis is the focal proliferation of glial cells in the central nervous system.") -AnnotationAssertion( "MSH:D005911") AnnotationAssertion( "SNOMEDCT_US:359580009") AnnotationAssertion( "SNOMEDCT_US:81415000") AnnotationAssertion( "UMLS:C0017639") @@ -43252,7 +42579,6 @@ SubClassOf( ) "A type of tremors that is triggered by holding a limb in a fixed position.") AnnotationAssertion( "HP:0006925") AnnotationAssertion( "HP:0007197") -AnnotationAssertion( "MSH:D014202") AnnotationAssertion( "SNOMEDCT_US:56610005") AnnotationAssertion( "UMLS:C0234378") AnnotationAssertion(Annotation( ) "Tremor, postural") @@ -43263,7 +42589,6 @@ SubClassOf( (Spinal cord compression) AnnotationAssertion(Annotation( ) "External mechanical compression of the spinal cord.") -AnnotationAssertion( "MSH:D013117") AnnotationAssertion( "SNOMEDCT_US:71286001") AnnotationAssertion( "UMLS:C0037926") AnnotationAssertion(Annotation( ) Annotation( ) "Pressure on spinal cord") @@ -43286,8 +42611,6 @@ SubClassOf( (Neurodegeneration) AnnotationAssertion(Annotation( ) "Progressive loss of neural cells and tissue.") -AnnotationAssertion( "MSH:D009410") -AnnotationAssertion( "MSH:D019636") AnnotationAssertion( "UMLS:C0027746") AnnotationAssertion( "UMLS:C0524851") AnnotationAssertion( "UMLS:C4020854") @@ -43304,7 +42627,6 @@ SubClassOf( ) "Abnormal accumulation of fluid in the brain.") AnnotationAssertion(Annotation( ) Annotation( ) "Brain swelling") -AnnotationAssertion( "MSH:D001929") AnnotationAssertion( "SNOMEDCT_US:2032001") AnnotationAssertion( "UMLS:C0006114") AnnotationAssertion( "UMLS:C1527311") @@ -43327,7 +42649,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D012001") AnnotationAssertion( "SNOMEDCT_US:313387002") AnnotationAssertion( "UMLS:C0751466") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Fear of loud sounds") @@ -43341,7 +42662,6 @@ SubClassOf( ) "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.") AnnotationAssertion( "HP:0003132") AnnotationAssertion( "HP:0007070") -AnnotationAssertion( "MSH:D016874") AnnotationAssertion( "SNOMEDCT_US:85775002") AnnotationAssertion( "UMLS:C0085400") AnnotationAssertion( "Neurofibrillary tangles composed of disordered microtubules in neurons") @@ -43353,7 +42673,6 @@ SubClassOf( (Apraxia) AnnotationAssertion( "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.") -AnnotationAssertion( "MSH:D001072") AnnotationAssertion( "SNOMEDCT_US:68345001") AnnotationAssertion( "SNOMEDCT_US:6950007") AnnotationAssertion( "UMLS:C0003635") @@ -43365,7 +42684,6 @@ SubClassOf( (Intellectual disability, profound) AnnotationAssertion(Annotation( ) "Profound mental retardation is defined as an intelligence quotient (IQ) below 20.") -AnnotationAssertion( "MSH:D008607") AnnotationAssertion( "SNOMEDCT_US:31216003") AnnotationAssertion( "UMLS:C0020796") AnnotationAssertion( "UMLS:C3161330") @@ -43460,7 +42778,6 @@ SubClassOf( (Myelopathy) -AnnotationAssertion( "MSH:D013118") AnnotationAssertion( "SNOMEDCT_US:48522003") AnnotationAssertion( "UMLS:C0037928") AnnotationAssertion( "HP:0002196") @@ -43474,7 +42791,6 @@ AnnotationAssertion(Annotation( "HP:0002409") AnnotationAssertion( "HP:0007114") AnnotationAssertion( "HP:0007339") -AnnotationAssertion( "MSH:D012640") AnnotationAssertion( "SNOMEDCT_US:246545002") AnnotationAssertion( "UMLS:C0234533") AnnotationAssertion( "UMLS:C1833488") @@ -43525,7 +42841,6 @@ SubClassOf( (Pleural effusion) AnnotationAssertion(Annotation( ) "The presence of an excessive amount of fluid in the pleural cavity.") -AnnotationAssertion( "MSH:D010996") AnnotationAssertion( "SNOMEDCT_US:60046008") AnnotationAssertion( "UMLS:C0032227") AnnotationAssertion(Annotation( ) Annotation( ) "Fluid around lungs") @@ -43538,7 +42853,6 @@ SubClassOf( (Respiratory paralysis) AnnotationAssertion(Annotation( ) "Inability to move the muscles of respiration.") -AnnotationAssertion( "MSH:D012133") AnnotationAssertion( "SNOMEDCT_US:64228003") AnnotationAssertion( "UMLS:C0035232") AnnotationAssertion( "HP:0002203") @@ -43549,7 +42863,6 @@ SubClassOf( (Pulmonary embolism) AnnotationAssertion( "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.") -AnnotationAssertion( "MSH:D011655") AnnotationAssertion( "SNOMEDCT_US:59282003") AnnotationAssertion( "UMLS:C0034065") AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in artery of lung") @@ -43577,7 +42890,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:DDD_tkuijpers") "Replacement of normal lung tissues by fibroblasts and collagen.") AnnotationAssertion( "HP:0006523") -AnnotationAssertion( "MSH:D011658") AnnotationAssertion( "SNOMEDCT_US:51615001") AnnotationAssertion( "UMLS:C0034069") AnnotationAssertion( "HP:0002206") @@ -43752,7 +43064,6 @@ SubClassOf( (Facial hypertrichosis) AnnotationAssertion( "Excessive, increased hair growth located in the facial region.") -AnnotationAssertion( "MSH:C565029") AnnotationAssertion( "UMLS:C1851400") AnnotationAssertion(Annotation( ) Annotation( ) "Increased facial hair growth") AnnotationAssertion( "HP:0002219") @@ -43908,8 +43219,6 @@ SubClassOf( "Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.") AnnotationAssertion( "HP:0002229") -AnnotationAssertion( "MSH:C531609") -AnnotationAssertion( "MSH:D000506") AnnotationAssertion( "SNOMEDCT_US:68225006") AnnotationAssertion( "UMLS:C0002171") AnnotationAssertion( "UMLS:C1862862") @@ -43958,7 +43267,6 @@ SubClassOf( (Gastrointestinal hemorrhage) AnnotationAssertion(Annotation( ) "Hemorrhage affecting the gastrointestinal tract.") -AnnotationAssertion( "MSH:D006471") AnnotationAssertion( "SNOMEDCT_US:74474003") AnnotationAssertion( "UMLS:C0017181") AnnotationAssertion(Annotation( ) "GI haemorrhage") @@ -43976,7 +43284,6 @@ SubClassOf( ) "Abnormally increased size of the liver.") AnnotationAssertion( "HP:0001393") AnnotationAssertion( "HP:0001398") -AnnotationAssertion( "MSH:D006529") AnnotationAssertion( "SNOMEDCT_US:80515008") AnnotationAssertion( "UMLS:C0019209") AnnotationAssertion(Annotation( ) "Enlarged liver") @@ -43990,7 +43297,6 @@ SubClassOf( ) "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.") AnnotationAssertion( "HP:0002628") -AnnotationAssertion( "MSH:D007410") AnnotationAssertion( "SNOMEDCT_US:85919009") AnnotationAssertion( "UMLS:C0021831") AnnotationAssertion(Annotation( ) "Abnormality of the intestine") @@ -44003,7 +43309,6 @@ SubClassOf( (Protein-losing enteropathy) AnnotationAssertion(Annotation( ) "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.") -AnnotationAssertion( "MSH:D011504") AnnotationAssertion( "SNOMEDCT_US:22542007") AnnotationAssertion( "SNOMEDCT_US:66972006") AnnotationAssertion( "UMLS:C0033680") @@ -44026,7 +43331,6 @@ SubClassOf( ) "Meckel's diverticulum is a congenital diverticulum located in the distal ileum.") AnnotationAssertion(Annotation(rdfs:label "Meckel's diverticulum") "MEDDRA:10027055") -AnnotationAssertion( "MSH:D008467") AnnotationAssertion( "SNOMEDCT_US:127962001") AnnotationAssertion( "SNOMEDCT_US:37373007") AnnotationAssertion( "UMLS:C0025037") @@ -44050,7 +43354,6 @@ SubClassOf( ) "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.") AnnotationAssertion( "Fyler:4406") AnnotationAssertion(Annotation(rdfs:label "Duodenal atresia") "MEDDRA:10013812") -AnnotationAssertion( "MSH:C535720") AnnotationAssertion( "SNOMEDCT_US:51118003") AnnotationAssertion( "UMLS:C0266174") AnnotationAssertion(Annotation( ) Annotation( ) "Absence or narrowing of first part of small bowel") @@ -44064,7 +43367,6 @@ SubClassOf( (Hematemesis) AnnotationAssertion(Annotation( ) "The vomiting of blood.") -AnnotationAssertion( "MSH:D006396") AnnotationAssertion( "SNOMEDCT_US:8765009") AnnotationAssertion( "UMLS:C0018926") AnnotationAssertion(Annotation( ) Annotation( ) "Vomiting blood") @@ -44076,7 +43378,6 @@ SubClassOf( (Melena) AnnotationAssertion(Annotation( ) "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.") -AnnotationAssertion( "MSH:D008551") AnnotationAssertion( "SNOMEDCT_US:249627005") AnnotationAssertion( "SNOMEDCT_US:267055007") AnnotationAssertion( "SNOMEDCT_US:269899009") @@ -44125,8 +43426,6 @@ SubClassOf( ) "The presence of multiple diverticula of the colon.") AnnotationAssertion( "HP:0005860") AnnotationAssertion(Annotation(rdfs:label "Colonic diverticulosis") "MEDDRA:10009993") -AnnotationAssertion( "MSH:D004241") -AnnotationAssertion( "MSH:D043963") AnnotationAssertion( "SNOMEDCT_US:398050005") AnnotationAssertion( "UMLS:C0012811") AnnotationAssertion( "UMLS:C0012819") @@ -44197,7 +43496,6 @@ SubClassOf( (Focal clonic seizure) AnnotationAssertion(Annotation( ) Annotation( "PMID:11580774") Annotation( "PMID:28276060") Annotation( "PMID:28276064") "A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.") -AnnotationAssertion( "MSH:D020938") AnnotationAssertion( "UMLS:C0752323") AnnotationAssertion(Annotation( ) "Focal clonic seizures") AnnotationAssertion(Annotation( ) "Localised clonic seizure") @@ -44213,7 +43511,6 @@ SubClassOf( (Exaggerated startle response) AnnotationAssertion(Annotation( ) "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.") -AnnotationAssertion( "MSH:D000071017") AnnotationAssertion( "SNOMEDCT_US:19557000") AnnotationAssertion( "UMLS:C0234166") AnnotationAssertion( "UMLS:C1740801") @@ -44231,7 +43528,6 @@ SubClassOf( ) "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.") AnnotationAssertion( "HP:0002412") -AnnotationAssertion( "MSH:D004421") AnnotationAssertion( "SNOMEDCT_US:230310003") AnnotationAssertion( "UMLS:C0393588") AnnotationAssertion( "Episodic dystonia") @@ -44243,7 +43539,6 @@ SubClassOf( ) "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.") AnnotationAssertion( "HP:0007317") -AnnotationAssertion( "MSH:D054081") AnnotationAssertion( "UMLS:C1837249") AnnotationAssertion( "Abnormal neuronal migration") AnnotationAssertion( "Heterotopias/abnormal migration") @@ -44275,7 +43570,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Weakness of all four limbs.") AnnotationAssertion( "HP:0002338") -AnnotationAssertion( "MSH:D011782") AnnotationAssertion( "SNOMEDCT_US:91327001") AnnotationAssertion( "UMLS:C0270790") AnnotationAssertion( "Quadriparesis") @@ -44296,7 +43590,6 @@ SubClassOf( ) "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.") AnnotationAssertion( "HP:0000596") -AnnotationAssertion( "MSH:D006732") AnnotationAssertion( "SNOMEDCT_US:12731000") AnnotationAssertion( "SNOMEDCT_US:192915005") AnnotationAssertion( "SNOMEDCT_US:271730003") @@ -44333,7 +43626,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "PMID:22427329") Annotation( "PMID:25180909") Annotation( "PMID:7524438") "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.") AnnotationAssertion( "HP:0002281") AnnotationAssertion( "HP:0007314") -AnnotationAssertion( "MSH:D002828") AnnotationAssertion( "SNOMEDCT_US:128490007") AnnotationAssertion( "SNOMEDCT_US:416286003") AnnotationAssertion( "SNOMEDCT_US:417338002") @@ -44409,7 +43701,6 @@ SubClassOf( ) "Loss of all hair on the entire body.") AnnotationAssertion( "HP:0004550") -AnnotationAssertion( "MSH:C537055") AnnotationAssertion( "SNOMEDCT_US:86166000") AnnotationAssertion( "UMLS:C0263505") AnnotationAssertion( "Alopecia, complete") @@ -44433,7 +43724,6 @@ SubClassOf( "PMID:19125436") "Absence of hair in the anterior midline and/or parietal areas.") AnnotationAssertion(Annotation( ) Annotation( ) "Male pattern baldness") -AnnotationAssertion( "MSH:D000505") AnnotationAssertion( "SNOMEDCT_US:87872006") AnnotationAssertion( "UMLS:C1864584") AnnotationAssertion( "UMLS:C4083212") @@ -44449,7 +43739,6 @@ AnnotationAssertion( ) Annotation( ) "Absence of scalp hair") AnnotationAssertion(Annotation( ) Annotation( ) "Baldness") AnnotationAssertion(Annotation( ) Annotation( ) "Missing scalp hair") -AnnotationAssertion( "MSH:D000505") AnnotationAssertion( "SNOMEDCT_US:278040002") AnnotationAssertion( "SNOMEDCT_US:298000004") AnnotationAssertion( "SNOMEDCT_US:56317004") @@ -44527,7 +43816,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D009155") AnnotationAssertion( "SNOMEDCT_US:88052002") AnnotationAssertion( "UMLS:C0026884") AnnotationAssertion(Annotation( ) Annotation( ) "Inability to speak") @@ -44540,7 +43828,6 @@ SubClassOf( (Hemiplegia) AnnotationAssertion(Annotation( ) "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.") -AnnotationAssertion( "MSH:D006429") AnnotationAssertion( "SNOMEDCT_US:50582007") AnnotationAssertion( "UMLS:C0018991") AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis on one side of body") @@ -44564,7 +43851,6 @@ SubClassOf( ) Annotation( "PMID:20589866") "A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.") AnnotationAssertion( "HP:0007167") AnnotationAssertion( "HP:0007316") -AnnotationAssertion( "MSH:D001264") AnnotationAssertion( "SNOMEDCT_US:44913001") AnnotationAssertion( "SNOMEDCT_US:58593005") AnnotationAssertion( "UMLS:C0004158") @@ -44581,7 +43867,6 @@ SubClassOf( (Drooling) AnnotationAssertion(Annotation( ) Annotation( "PMID:15202698") "Habitual flow of saliva out of the mouth.") -AnnotationAssertion( "MSH:D012798") AnnotationAssertion( "SNOMEDCT_US:275295002") AnnotationAssertion( "SNOMEDCT_US:53827007") AnnotationAssertion( "SNOMEDCT_US:62718007") @@ -44597,7 +43882,6 @@ SubClassOf( (Chiari malformation) AnnotationAssertion(Annotation( ) Annotation( "PMID:28613730") "Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.") -AnnotationAssertion( "MSH:D001139") AnnotationAssertion( "SNOMEDCT_US:253184003") AnnotationAssertion( "UMLS:C0003803") AnnotationAssertion( "Arnold-Chiari malformation") @@ -44607,7 +43891,6 @@ SubClassOf( (Orofacial dyskinesia) -AnnotationAssertion( "MSH:D020820") AnnotationAssertion( "SNOMEDCT_US:49386006") AnnotationAssertion( "UMLS:C0152115") AnnotationAssertion( "Orofacial dyskinesias") @@ -44618,7 +43901,6 @@ SubClassOf( (Incoordination) AnnotationAssertion( "HP:0002276") -AnnotationAssertion( "MSH:D001259") AnnotationAssertion( "SNOMEDCT_US:281016006") AnnotationAssertion( "SNOMEDCT_US:302289002") AnnotationAssertion( "UMLS:C0520966") @@ -44643,7 +43925,6 @@ SubClassOf( (Spastic paraparesis) AnnotationAssertion( "HP:0007191") -AnnotationAssertion( "MSH:D020336") AnnotationAssertion( "SNOMEDCT_US:312444006") AnnotationAssertion( "UMLS:C0037771") AnnotationAssertion( "HP:0002313") @@ -44667,7 +43948,6 @@ SubClassOf( ) Annotation( "PMID:15304572") "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.") AnnotationAssertion( "HP:0000266") AnnotationAssertion( "HP:0001354") -AnnotationAssertion( "MSH:D006261") AnnotationAssertion( "SNOMEDCT_US:25064002") AnnotationAssertion( "UMLS:C0018681") AnnotationAssertion(Annotation( ) "Headache") @@ -44679,7 +43959,6 @@ SubClassOf( (Unsteady gait) -AnnotationAssertion( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:22631008") AnnotationAssertion( "SNOMEDCT_US:394616008") AnnotationAssertion( "UMLS:C0231686") @@ -44700,8 +43979,6 @@ SubClassOf( (Vertigo) AnnotationAssertion(Annotation( ) "An abnormal sensation of spinning while the body is actually stationary.") -AnnotationAssertion( "MSH:D004244") -AnnotationAssertion( "MSH:D014717") AnnotationAssertion( "SNOMEDCT_US:271789005") AnnotationAssertion( "SNOMEDCT_US:399090003") AnnotationAssertion( "SNOMEDCT_US:399153001") @@ -44717,7 +43994,6 @@ SubClassOf( (Resting tremor) AnnotationAssertion(Annotation( ) Annotation( "PMID:22675666") "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.") -AnnotationAssertion( "MSH:D014202") AnnotationAssertion( "SNOMEDCT_US:25082004") AnnotationAssertion( "UMLS:C0234379") AnnotationAssertion( "Rest tremor") @@ -44733,7 +44009,6 @@ SubClassOf( "PMID:31424828") Annotation( "PMID:32706613") "Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.") AnnotationAssertion( "Fyler:4332") -AnnotationAssertion( "MSH:D000757") AnnotationAssertion( "SNOMEDCT_US:89369001") AnnotationAssertion( "UMLS:C0002902") AnnotationAssertion( "Embryonic anencephaly") @@ -44748,7 +44023,6 @@ SubClassOf( (Hydranencephaly) AnnotationAssertion(Annotation( ) "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.") -AnnotationAssertion( "MSH:D006832") AnnotationAssertion( "SNOMEDCT_US:30023002") AnnotationAssertion( "UMLS:C0020225") AnnotationAssertion(Annotation( ) "Hydrancephaly") @@ -44758,7 +44032,6 @@ SubClassOf( (Transient ischemic attack) -AnnotationAssertion( "MSH:D002546") AnnotationAssertion( "UMLS:C0917805") AnnotationAssertion(Annotation( ) Annotation( ) "Mini stroke") AnnotationAssertion(Annotation( ) Annotation( ) "TIA") @@ -44779,7 +44052,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D012894") AnnotationAssertion( "SNOMEDCT_US:271782001") AnnotationAssertion( "SNOMEDCT_US:79519003") AnnotationAssertion( "UMLS:C0013144") @@ -44852,7 +44124,6 @@ SubClassOf( ) "Congenital absence of the vermis of cerebellum.") AnnotationAssertion( "HP:0007125") -AnnotationAssertion( "MSH:C536293") AnnotationAssertion( "SNOMEDCT_US:253175003") AnnotationAssertion( "SNOMEDCT_US:716997004") AnnotationAssertion( "UMLS:C0431399") @@ -44910,7 +44181,6 @@ SubClassOf( (Normal pressure hydrocephalus) AnnotationAssertion(Annotation( ) Annotation( "eMedicine:1135286") "A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.") -AnnotationAssertion( "MSH:D006850") AnnotationAssertion( "SNOMEDCT_US:30753002") AnnotationAssertion( "UMLS:C0020258") AnnotationAssertion( "Normal-pressure hydrocephalus") @@ -44934,7 +44204,6 @@ SubClassOf( (Action tremor) AnnotationAssertion(Annotation( ) "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.") -AnnotationAssertion( "MSH:D014202") AnnotationAssertion( "SNOMEDCT_US:30721006") AnnotationAssertion( "UMLS:C0234376") AnnotationAssertion( "UMLS:C4020853") @@ -44957,7 +44226,6 @@ SubClassOf( (Focal aware seizure) AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "PMID:28276060") Annotation( "PMID:28276062") Annotation( "PMID:28276064") "A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.") -AnnotationAssertion( "MSH:D004828") AnnotationAssertion( "SNOMEDCT_US:117891000119100") AnnotationAssertion( "SNOMEDCT_US:79348005") AnnotationAssertion( "UMLS:C0234974") @@ -44990,7 +44258,6 @@ SubClassOf( ) "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.") AnnotationAssertion( "HP:0006838") AnnotationAssertion( "HP:0007073") -AnnotationAssertion( "MSH:D056784") AnnotationAssertion( "SNOMEDCT_US:22811006") AnnotationAssertion( "UMLS:C0270612") AnnotationAssertion( "HP:0002352") @@ -45021,7 +44288,6 @@ SubClassOf( ) "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.") AnnotationAssertion( "HP:0000747") AnnotationAssertion( "HP:0002081") -AnnotationAssertion( "MSH:D008569") AnnotationAssertion( "SNOMEDCT_US:386807006") AnnotationAssertion( "SNOMEDCT_US:55533009") AnnotationAssertion( "UMLS:C0233794") @@ -45043,7 +44309,6 @@ SubClassOf( ) "Reduced ability to walk (ambulate).") AnnotationAssertion( "HP:0007101") AnnotationAssertion( "HP:0009030") -AnnotationAssertion( "MSH:D051346") AnnotationAssertion( "SNOMEDCT_US:228158008") AnnotationAssertion( "UMLS:C0311394") AnnotationAssertion(Annotation( ) "Difficulty in walking") @@ -45057,7 +44322,6 @@ SubClassOf( (Writer's cramp) AnnotationAssertion(Annotation( ) "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.") -AnnotationAssertion( "MSH:D020821") AnnotationAssertion( "SNOMEDCT_US:52008007") AnnotationAssertion( "UMLS:C0154676") AnnotationAssertion(Annotation( ) "Writer's cramp") @@ -45114,7 +44378,6 @@ SubClassOf( (Shuffling gait) AnnotationAssertion( "A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.") -AnnotationAssertion( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:43005009") AnnotationAssertion( "UMLS:C0231688") AnnotationAssertion(Annotation( ) Annotation( ) "Shuffled walk") @@ -45173,7 +44436,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D006212") AnnotationAssertion( "SNOMEDCT_US:64269007") AnnotationAssertion( "UMLS:C0233763") AnnotationAssertion(Annotation( ) "Visual hallucinations") @@ -45210,7 +44472,6 @@ SubClassOf( ) Annotation( "PMID:10353950") Annotation( "PMID:19125841") Annotation( "PMID:30078767") Annotation( "PMID:6779259") "A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.") AnnotationAssertion( "HP:0002175") AnnotationAssertion( "HP:0007102") -AnnotationAssertion( "MSH:D003294") AnnotationAssertion( "SNOMEDCT_US:41497008") AnnotationAssertion( "UMLS:C0009952") AnnotationAssertion( "Febrile convulsion") @@ -45236,7 +44497,6 @@ SubClassOf( ) "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.") AnnotationAssertion( "HP:0002603") AnnotationAssertion( "HP:0006795") -AnnotationAssertion( "MSH:D018476") AnnotationAssertion( "SNOMEDCT_US:255385008") AnnotationAssertion( "SNOMEDCT_US:43994002") AnnotationAssertion( "UMLS:C0086439") @@ -45305,7 +44565,6 @@ SubClassOf( ) "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.") AnnotationAssertion( "HP:0002468") AnnotationAssertion( "HP:0007092") -AnnotationAssertion( "MSH:D005207") AnnotationAssertion( "SNOMEDCT_US:82470000") AnnotationAssertion( "UMLS:C0015644") AnnotationAssertion( "Fasciculation") @@ -45320,7 +44579,6 @@ SubClassOf( "PMID:27384070") "An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.") AnnotationAssertion( "HP:0002357") -AnnotationAssertion( "MSH:D001037") AnnotationAssertion( "SNOMEDCT_US:87486003") AnnotationAssertion( "UMLS:C0003537") AnnotationAssertion(Annotation( ) "Difficulty finding words") @@ -45334,7 +44592,6 @@ SubClassOf( (Infectious encephalitis) AnnotationAssertion(Annotation( "PMID:24365426") "A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.") -AnnotationAssertion( "MSH:D004660") AnnotationAssertion( "SNOMEDCT_US:45170000") AnnotationAssertion( "UMLS:C0014038") AnnotationAssertion(Annotation( ) Annotation( ) "Brain inflammation") @@ -45376,7 +44633,6 @@ SubClassOf( (Paraparesis) AnnotationAssertion(Annotation( ) "Weakness or partial paralysis in the lower limbs.") -AnnotationAssertion( "MSH:D020335") AnnotationAssertion( "SNOMEDCT_US:1845001") AnnotationAssertion( "UMLS:C0221166") AnnotationAssertion(Annotation( ) Annotation( ) "Partial paralysis of legs") @@ -45437,7 +44693,6 @@ SubClassOf( (Cogwheel rigidity) AnnotationAssertion(Annotation( ) "A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).") -AnnotationAssertion( "MSH:D009127") AnnotationAssertion( "SNOMEDCT_US:55630000") AnnotationAssertion( "UMLS:C0151564") AnnotationAssertion( "HP:0002396") @@ -45507,7 +44762,6 @@ SubClassOf( "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.") AnnotationAssertion( "Fyler:2201") -AnnotationAssertion( "MSH:D002538") AnnotationAssertion( "SNOMEDCT_US:234142008") AnnotationAssertion( "UMLS:C0917804") AnnotationAssertion(Annotation( ) "Cerebral AV malformation") @@ -45519,7 +44773,6 @@ SubClassOf( (Aqueductal stenosis) AnnotationAssertion(Annotation( ) "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.") -AnnotationAssertion( "MSH:D006849") AnnotationAssertion( "UMLS:C2936786") AnnotationAssertion( "Aqueduct of Sylvius stenosis") AnnotationAssertion( "Aqueduct stenosis") @@ -45532,7 +44785,6 @@ SubClassOf( (Myokymia) AnnotationAssertion(Annotation( "PMID:21501741") "Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.") -AnnotationAssertion( "MSH:D020385") AnnotationAssertion( "SNOMEDCT_US:27678003") AnnotationAssertion( "UMLS:C0684219") AnnotationAssertion( "HP:0002411") @@ -45545,7 +44797,6 @@ SubClassOf( ) "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.") AnnotationAssertion(Annotation( ) Annotation( "http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel") Annotation( ) "Split spine") AnnotationAssertion( "Fyler:4157") -AnnotationAssertion( "MSH:D016135") AnnotationAssertion( "SNOMEDCT_US:67531005") AnnotationAssertion( "UMLS:C0080178") AnnotationAssertion( "HP:0002414") @@ -45636,7 +44887,6 @@ SubClassOf( (Expressive aphasia) AnnotationAssertion(Annotation( ) "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.") -AnnotationAssertion( "MSH:D001039") AnnotationAssertion( "SNOMEDCT_US:229654003") AnnotationAssertion( "SNOMEDCT_US:229665008") AnnotationAssertion( "SNOMEDCT_US:328681008") @@ -45653,7 +44903,6 @@ SubClassOf( (Meningocele) AnnotationAssertion(Annotation( ) Annotation( "PMID:32965845") "Protrusion of the meninges through a defect of the skull or vertebral column.") -AnnotationAssertion( "MSH:D008588") AnnotationAssertion( "SNOMEDCT_US:171131006") AnnotationAssertion( "UMLS:C0025299") AnnotationAssertion( "HP:0002435") @@ -45700,7 +44949,6 @@ SubClassOf( (Hypothalamic hamartoma) AnnotationAssertion(Annotation( ) "The presence of a hamartoma of the hypothalamus.") -AnnotationAssertion( "MSH:C537158") AnnotationAssertion( "SNOMEDCT_US:237714006") AnnotationAssertion( "UMLS:C0342418") AnnotationAssertion( "HP:0002444") @@ -45714,7 +44962,6 @@ SubClassOf( ) "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.") AnnotationAssertion( "HP:0010552") -AnnotationAssertion( "MSH:D011782") AnnotationAssertion( "SNOMEDCT_US:11538006") AnnotationAssertion( "UMLS:C0034372") AnnotationAssertion(Annotation( ) Annotation( ) "Paralysis of all four limbs") @@ -45727,7 +44974,6 @@ SubClassOf( ) "Proliferation of astrocytes in the area of a lesion of the central nervous system.") AnnotationAssertion(Annotation( ) "Increase in astrocyte number") -AnnotationAssertion( "MSH:D005911") AnnotationAssertion( "SNOMEDCT_US:81415000") AnnotationAssertion( "UMLS:C3887640") AnnotationAssertion( "HP:0002446") @@ -45757,7 +45003,6 @@ SubClassOf( (Limb dystonia) AnnotationAssertion(Annotation( ) "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.") -AnnotationAssertion( "MSH:D004421") AnnotationAssertion( "UMLS:C0751093") AnnotationAssertion( "HP:0002451") AnnotationAssertion(rdfs:label "Limb dystonia") @@ -45845,7 +45090,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D007806") AnnotationAssertion( "SNOMEDCT_US:62305002") AnnotationAssertion( "UMLS:C0023015") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Language disorder") @@ -45856,7 +45100,6 @@ SubClassOf( (Spastic dysarthria) AnnotationAssertion(Annotation( ) "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.") -AnnotationAssertion( "MSH:D004401") AnnotationAssertion( "SNOMEDCT_US:229684006") AnnotationAssertion( "UMLS:C0454596") AnnotationAssertion(Annotation( ) Annotation( "http://medical-dictionary.thefreedictionary.com/spastic+dysarthria") "Rigid dysarthria") @@ -45913,7 +45156,6 @@ SubClassOf( ) "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.") AnnotationAssertion( "Fyler:4309") -AnnotationAssertion( "MSH:D008591") AnnotationAssertion( "SNOMEDCT_US:203994003") AnnotationAssertion( "SNOMEDCT_US:414667000") AnnotationAssertion( "UMLS:C0025312") @@ -45946,7 +45188,6 @@ SubClassOf( (Hepatic encephalopathy) AnnotationAssertion(Annotation( ) "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.") -AnnotationAssertion( "MSH:D006501") AnnotationAssertion( "SNOMEDCT_US:13920009") AnnotationAssertion( "SNOMEDCT_US:449902003") AnnotationAssertion( "UMLS:C0019151") @@ -45968,7 +45209,6 @@ AnnotationAssertion(Annotation( "HP:0003632") AnnotationAssertion( "HP:0003754") AnnotationAssertion( "HP:0003792") -AnnotationAssertion( "MSH:D009222") AnnotationAssertion( "SNOMEDCT_US:3434004") AnnotationAssertion( "UMLS:C0027125") AnnotationAssertion( "Delayed relaxation of muscle fibers after contraction") @@ -45981,8 +45221,6 @@ SubClassOf( (Hyperkinetic movements) AnnotationAssertion(Annotation( ) "Motor hyperactivity with excessive movement of muscles of the body as a whole.") -AnnotationAssertion( "MSH:D006948") -AnnotationAssertion( "MSH:D013035") AnnotationAssertion( "SNOMEDCT_US:44548000") AnnotationAssertion( "SNOMEDCT_US:45352006") AnnotationAssertion( "UMLS:C0037763") @@ -46104,7 +45342,6 @@ SubClassOf( (Spastic ataxia) -AnnotationAssertion( "MSH:C564815") AnnotationAssertion( "UMLS:C1849156") AnnotationAssertion( "HP:0002497") AnnotationAssertion(rdfs:label "Spastic ataxia") @@ -46114,7 +45351,6 @@ SubClassOf( ) "An abnormality of the cerebral white matter.") AnnotationAssertion( "HP:0200100") -AnnotationAssertion( "MSH:D049292") AnnotationAssertion( "UMLS:C0948163") AnnotationAssertion( "UMLS:C4020851") AnnotationAssertion( "Abnormality of subcortical white matter") @@ -46181,7 +45417,6 @@ SubClassOf( (Semilobar holoprosencephaly) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:GC_HPE") "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.") -AnnotationAssertion( "MSH:D016142") AnnotationAssertion( "SNOMEDCT_US:253138008") AnnotationAssertion( "UMLS:C0751617") AnnotationAssertion( "HP:0002507") @@ -46216,7 +45451,6 @@ SubClassOf( ) "Spastic paralysis affecting all four limbs.") AnnotationAssertion( "HP:0001280") AnnotationAssertion( "HP:0006983") -AnnotationAssertion( "MSH:D011782") AnnotationAssertion( "SNOMEDCT_US:192965001") AnnotationAssertion( "UMLS:C0426970") AnnotationAssertion( "Spastic quadriplegia") @@ -46232,8 +45466,6 @@ AnnotationAssertion( "HP:0007213") AnnotationAssertion( "DOID:10652") AnnotationAssertion( "MONDO:0004975") -AnnotationAssertion( "MSH:C536595") -AnnotationAssertion( "MSH:D000544") AnnotationAssertion( "SNOMEDCT_US:230267005") AnnotationAssertion( "SNOMEDCT_US:26929004") AnnotationAssertion( "UMLS:C0002395") @@ -46274,7 +45506,6 @@ SubClassOf( (Waddling gait) AnnotationAssertion(Annotation( "PMID:27770207") "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.") -AnnotationAssertion( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:271706000") AnnotationAssertion( "UMLS:C0231712") AnnotationAssertion(Annotation( ) "Waddling gait") @@ -46286,7 +45517,6 @@ SubClassOf( (Increased intracranial pressure) AnnotationAssertion(Annotation( ) "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.") -AnnotationAssertion( "MSH:D019586") AnnotationAssertion( "SNOMEDCT_US:271719001") AnnotationAssertion( "UMLS:C0151740") AnnotationAssertion( "Intracranial hypertension") @@ -46319,7 +45549,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D006212") AnnotationAssertion( "SNOMEDCT_US:44780000") AnnotationAssertion( "UMLS:C0233773") AnnotationAssertion( "Hallucinations while falling asleep") @@ -46332,7 +45561,6 @@ SubClassOf( (Hypsarrhythmia) AnnotationAssertion(Annotation( ) "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).") -AnnotationAssertion( "MSH:D013036") AnnotationAssertion( "SNOMEDCT_US:28055006") AnnotationAssertion( "UMLS:C0684276") AnnotationAssertion( "Hypsarrhythmia by EEG") @@ -46359,7 +45587,6 @@ SubClassOf( ) Annotation( "PMID:21931493") Annotation( "PMID:22249574") "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.") AnnotationAssertion( "HP:0002428") AnnotationAssertion( "HP:0002525") -AnnotationAssertion( "MSH:D002385") AnnotationAssertion( "SNOMEDCT_US:46263000") AnnotationAssertion( "UMLS:C0007384") AnnotationAssertion( "HP:0002524") @@ -46458,7 +45685,6 @@ SubClassOf( ) "The presence of developmental dysplasia of the cerebral cortex.") AnnotationAssertion( "HP:0007139") -AnnotationAssertion( "MSH:D054220") AnnotationAssertion( "SNOMEDCT_US:253153000") AnnotationAssertion( "UMLS:C0431380") AnnotationAssertion( "Neocortical dysplasia") @@ -46482,7 +45708,6 @@ SubClassOf( ) "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.") AnnotationAssertion( "HP:0005683") -AnnotationAssertion( "MSH:D009849") AnnotationAssertion( "SNOMEDCT_US:67761004") AnnotationAssertion( "UMLS:C0028968") AnnotationAssertion( "Olivopontocerebellar degeneration") @@ -46618,7 +45843,6 @@ SubClassOf( ) "Presence of more than two nipples.") AnnotationAssertion( "HP:0002559") AnnotationAssertion( "Fyler:4234") -AnnotationAssertion( "MSH:C562557") AnnotationAssertion( "SNOMEDCT_US:50956007") AnnotationAssertion( "UMLS:C0266011") AnnotationAssertion(Annotation( ) "Accessory nipple") @@ -46661,7 +45885,6 @@ SubClassOf( (Constrictive pericarditis) AnnotationAssertion(Annotation( ) "Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.") -AnnotationAssertion( "MSH:D010494") AnnotationAssertion( "SNOMEDCT_US:85598007") AnnotationAssertion( "UMLS:C0031048") AnnotationAssertion( "HP:0002563") @@ -46680,7 +45903,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) Annotation( "PMID:12438031") "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.") AnnotationAssertion( "HP:0002026") AnnotationAssertion(Annotation(rdfs:label "Intestinal malrotation") "MEDDRA:10064024") -AnnotationAssertion( "MSH:C562456") AnnotationAssertion( "SNOMEDCT_US:253789002") AnnotationAssertion( "SNOMEDCT_US:29980002") AnnotationAssertion( "SNOMEDCT_US:48641006") @@ -46696,7 +45918,6 @@ SubClassOf( (Steatorrhea) AnnotationAssertion(Annotation( ) "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.") -AnnotationAssertion( "MSH:D045602") AnnotationAssertion( "SNOMEDCT_US:27868004") AnnotationAssertion( "SNOMEDCT_US:66187002") AnnotationAssertion( "UMLS:C0038238") @@ -46713,7 +45934,6 @@ SubClassOf( ) "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.") AnnotationAssertion(Annotation(rdfs:label "Oesophageal achalasia") "MEDDRA:10030136") -AnnotationAssertion( "MSH:D004931") AnnotationAssertion( "SNOMEDCT_US:45564002") AnnotationAssertion( "UMLS:C0014848") AnnotationAssertion( "Achalasia of the esophagus") @@ -46740,7 +45960,6 @@ SubClassOf( ) "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.") AnnotationAssertion( "HP:0002255") AnnotationAssertion( "HP:0002609") -AnnotationAssertion( "MSH:D006471") AnnotationAssertion( "SNOMEDCT_US:236068001") AnnotationAssertion( "SNOMEDCT_US:405729008") AnnotationAssertion( "UMLS:C0018932") @@ -46770,7 +45989,6 @@ AnnotationAssertion(Annotation( ) "Abnormal connection between trachea and oesophagus") AnnotationAssertion( "Fyler:4202") AnnotationAssertion(Annotation(rdfs:label "Tracheo-oesophageal fistula") "MEDDRA:10044310") -AnnotationAssertion( "MSH:D014138") AnnotationAssertion( "SNOMEDCT_US:95435007") AnnotationAssertion( "UMLS:C0040588") AnnotationAssertion( "HP:0002575") @@ -46784,7 +46002,6 @@ SubClassOf( ) "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.") AnnotationAssertion(Annotation(rdfs:label "Intussusception") "MEDDRA:10022863") -AnnotationAssertion( "MSH:D007443") AnnotationAssertion( "SNOMEDCT_US:35327006") AnnotationAssertion( "SNOMEDCT_US:49723003") AnnotationAssertion( "UMLS:C0021933") @@ -46808,7 +46025,6 @@ SubClassOf( (Gastroparesis) AnnotationAssertion(Annotation( ) "Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.") -AnnotationAssertion( "MSH:D018589") AnnotationAssertion( "SNOMEDCT_US:196753007") AnnotationAssertion( "SNOMEDCT_US:235675006") AnnotationAssertion( "UMLS:C0152020") @@ -46834,7 +46050,6 @@ SubClassOf( (Volvulus) AnnotationAssertion(Annotation( ) "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.") -AnnotationAssertion( "MSH:D045822") AnnotationAssertion( "SNOMEDCT_US:90738007") AnnotationAssertion( "SNOMEDCT_US:9707006") AnnotationAssertion( "UMLS:C0042961") @@ -46846,7 +46061,6 @@ SubClassOf( (Atrophic gastritis) AnnotationAssertion(Annotation( ) Annotation( "PMID:21483628") "Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.") -AnnotationAssertion( "MSH:D005757") AnnotationAssertion( "SNOMEDCT_US:84568007") AnnotationAssertion( "UMLS:C0017154") AnnotationAssertion( "Chronic atrophic gastritis") @@ -46858,7 +46072,6 @@ SubClassOf( (Colitis) AnnotationAssertion(Annotation( ) "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.") -AnnotationAssertion( "MSH:D003092") AnnotationAssertion( "SNOMEDCT_US:64226004") AnnotationAssertion( "UMLS:C0009319") AnnotationAssertion( "HP:0002583") @@ -46895,7 +46108,6 @@ SubClassOf( ) "Inflammation of the peritoneum.") AnnotationAssertion( "HP:0100591") -AnnotationAssertion( "MSH:D010538") AnnotationAssertion( "SNOMEDCT_US:48661000") AnnotationAssertion( "UMLS:C0031154") AnnotationAssertion( "Inflammation of the peritoneum") @@ -46919,7 +46131,6 @@ SubClassOf( ) "An erosion of the mucous membrane in a portion of the duodenum.") AnnotationAssertion(Annotation(rdfs:label "Duodenal ulcer") "MEDDRA:10013836") -AnnotationAssertion( "MSH:D004381") AnnotationAssertion( "SNOMEDCT_US:367474008") AnnotationAssertion( "SNOMEDCT_US:51868009") AnnotationAssertion( "UMLS:C0013295") @@ -46941,7 +46152,6 @@ SubClassOf( (Paralytic ileus) -AnnotationAssertion( "MSH:D007418") AnnotationAssertion( "SNOMEDCT_US:55525008") AnnotationAssertion( "UMLS:C0030446") AnnotationAssertion( "HP:0002590") @@ -46953,7 +46163,6 @@ SubClassOf( ) "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.") AnnotationAssertion( "HP:0000724") AnnotationAssertion( "HP:0002042") -AnnotationAssertion( "MSH:D006963") AnnotationAssertion( "SNOMEDCT_US:267023007") AnnotationAssertion( "SNOMEDCT_US:58424009") AnnotationAssertion( "SNOMEDCT_US:72405004") @@ -46971,7 +46180,6 @@ SubClassOf( ) "An ulcer, that is, an erosion of an area of the gastric mucous membrane.") AnnotationAssertion(Annotation(rdfs:label "Gastric ulcer") "MEDDRA:10017822") -AnnotationAssertion( "MSH:D013276") AnnotationAssertion( "SNOMEDCT_US:397825006") AnnotationAssertion( "UMLS:C0038358") AnnotationAssertion(Annotation( ) "Stomach ulcer") @@ -46986,7 +46194,6 @@ SubClassOf( (Intestinal lymphangiectasia) AnnotationAssertion(Annotation( ) "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.") -AnnotationAssertion( "MSH:D008201") AnnotationAssertion( "SNOMEDCT_US:197260007") AnnotationAssertion( "UMLS:C0024215") AnnotationAssertion( "HP:0002593") @@ -47012,7 +46219,6 @@ SubClassOf( ) "Acute obstruction of the intestines preventing passage of the contents of the intestines.") AnnotationAssertion(Annotation(rdfs:label "Ileus") "MEDDRA:10021328") -AnnotationAssertion( "MSH:D045823") AnnotationAssertion( "UMLS:C1258215") AnnotationAssertion(Annotation( ) "Gastrointestinal atony") AnnotationAssertion( "HP:0002595") @@ -47098,7 +46304,6 @@ SubClassOf( ) "Involuntary fecal soiling in adults and children who have usually already been toilet trained.") AnnotationAssertion( "HP:0007147") -AnnotationAssertion( "MSH:D005242") AnnotationAssertion( "SNOMEDCT_US:72042002") AnnotationAssertion( "UMLS:C0015732") AnnotationAssertion( "Anal incontinence") @@ -47113,7 +46318,6 @@ SubClassOf( (Celiac disease) AnnotationAssertion(Annotation( ) Annotation( "PMID:23681421") "Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases.") -AnnotationAssertion( "MSH:D002446") AnnotationAssertion( "SNOMEDCT_US:396331005") AnnotationAssertion( "UMLS:C0007570") AnnotationAssertion(Annotation( ) "Celiac disease") @@ -47135,7 +46339,6 @@ SubClassOf( (Congenital hepatic fibrosis) AnnotationAssertion(Annotation( ) "The presence of fibrosis of that part of the liver with congenital onset.") -AnnotationAssertion( "MSH:C562378") AnnotationAssertion( "SNOMEDCT_US:79607001") AnnotationAssertion( "UMLS:C0009714") AnnotationAssertion( "Congenital liver fibrosis") @@ -47149,7 +46352,6 @@ SubClassOf( (Biliary cirrhosis) AnnotationAssertion(Annotation( ) "Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.") -AnnotationAssertion( "MSH:D008105") AnnotationAssertion( "SNOMEDCT_US:1761006") AnnotationAssertion( "SNOMEDCT_US:31712002") AnnotationAssertion( "UMLS:C0008312") @@ -47172,7 +46374,6 @@ SubClassOf( ) "Low Blood Pressure, vascular hypotension.") AnnotationAssertion( "HP:0005127") AnnotationAssertion( "HP:0006701") -AnnotationAssertion( "MSH:D007022") AnnotationAssertion( "SNOMEDCT_US:45007003") AnnotationAssertion( "UMLS:C0020649") AnnotationAssertion( "Arterial hypotension") @@ -47202,7 +46403,6 @@ SubClassOf( ) Annotation( "PMID:30225143") "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.") AnnotationAssertion( "Fyler:2399") -AnnotationAssertion( "MSH:D000783") AnnotationAssertion( "SNOMEDCT_US:432119003") AnnotationAssertion( "SNOMEDCT_US:85659009") AnnotationAssertion( "UMLS:C0002940") @@ -47220,7 +46420,6 @@ SubClassOf( (Varicose veins) AnnotationAssertion(Annotation( ) "Enlarged and tortuous veins.") -AnnotationAssertion( "MSH:D014648") AnnotationAssertion( "SNOMEDCT_US:128060009") AnnotationAssertion( "SNOMEDCT_US:12856003") AnnotationAssertion( "SNOMEDCT_US:399989005") @@ -47233,7 +46432,6 @@ SubClassOf( ) Annotation( "PMID:31420554") "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.") AnnotationAssertion(Annotation( ) Annotation( ) "Plaque build-up in arteries") -AnnotationAssertion( "MSH:D050197") AnnotationAssertion( "SNOMEDCT_US:38716007") AnnotationAssertion( "UMLS:C0004153") AnnotationAssertion( "UMLS:C4280569") @@ -47280,7 +46478,6 @@ SubClassOf( (Deep venous thrombosis) AnnotationAssertion(Annotation( ) "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.") -AnnotationAssertion( "MSH:D020246") AnnotationAssertion( "SNOMEDCT_US:128053003") AnnotationAssertion( "UMLS:C0149871") AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in a deep vein") @@ -47346,7 +46543,6 @@ SubClassOf( (Vasculitis) AnnotationAssertion(Annotation( ) "Inflammation of blood vessel.") -AnnotationAssertion( "MSH:D014657") AnnotationAssertion( "SNOMEDCT_US:31996006") AnnotationAssertion( "UMLS:C0042384") AnnotationAssertion(Annotation( ) "Angiitis") @@ -47360,7 +46556,6 @@ SubClassOf( ) "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.") AnnotationAssertion(Annotation( ) Annotation( ) "Hardened artery wall") -AnnotationAssertion( "MSH:D001161") AnnotationAssertion( "SNOMEDCT_US:107671003") AnnotationAssertion( "SNOMEDCT_US:28960008") AnnotationAssertion( "SNOMEDCT_US:72092001") @@ -47375,7 +46570,6 @@ SubClassOf( (Type IV atherosclerotic lesion) AnnotationAssertion(Annotation( "PMID:7648691") "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.") -AnnotationAssertion( "MSH:D050197") AnnotationAssertion( "SNOMEDCT_US:38716007") AnnotationAssertion( "UMLS:C0004153") AnnotationAssertion( "Atheromatosis") @@ -47398,7 +46592,6 @@ SubClassOf( (Cerebral ischemia) AnnotationAssertion( "Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.") -AnnotationAssertion( "MSH:D002545") AnnotationAssertion( "SNOMEDCT_US:287731003") AnnotationAssertion( "SNOMEDCT_US:389100007") AnnotationAssertion( "UMLS:C0007786") @@ -47422,7 +46615,6 @@ SubClassOf( (Budd-Chiari syndrome) AnnotationAssertion(Annotation( ) Annotation( "PMID:16265183") "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.") -AnnotationAssertion( "MSH:D006502") AnnotationAssertion( "SNOMEDCT_US:82385007") AnnotationAssertion( "UMLS:C0856761") AnnotationAssertion( "HP:0002639") @@ -47519,7 +46711,6 @@ AnnotationAssertion( "HP:0003317") AnnotationAssertion( "HP:0003415") AnnotationAssertion( "Fyler:4160") -AnnotationAssertion( "MSH:D013121") AnnotationAssertion( "SNOMEDCT_US:111266001") AnnotationAssertion( "SNOMEDCT_US:64217002") AnnotationAssertion( "UMLS:C0037932") @@ -47544,7 +46735,6 @@ SubClassOf( ) "A general term describing features characterized by abnormal development of bones and connective tissues.") AnnotationAssertion( "HP:0005685") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal skeletal development") -AnnotationAssertion( "MSH:D010009") AnnotationAssertion( "SNOMEDCT_US:105985007") AnnotationAssertion( "SNOMEDCT_US:240190009") AnnotationAssertion( "UMLS:C0029422") @@ -47568,7 +46758,6 @@ SubClassOf( (Multiple epiphyseal dysplasia) -AnnotationAssertion( "MSH:D010009") AnnotationAssertion( "SNOMEDCT_US:59708000") AnnotationAssertion( "UMLS:C0026760") AnnotationAssertion( "HP:0002654") @@ -47581,7 +46770,6 @@ SubClassOf( ) "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).") AnnotationAssertion( "HP:0002776") AnnotationAssertion( "HP:0005893") -AnnotationAssertion( "MSH:D010009") AnnotationAssertion( "UMLS:C0038015") AnnotationAssertion( "HP:0002655") AnnotationAssertion(rdfs:label "Spondyloepiphyseal dysplasia") @@ -47602,7 +46790,6 @@ SubClassOf( (Spondylometaphyseal dysplasia) -AnnotationAssertion( "MSH:C537501") AnnotationAssertion( "SNOMEDCT_US:702350003") AnnotationAssertion( "UMLS:C0700635") AnnotationAssertion( "HP:0002657") @@ -47661,7 +46848,6 @@ AnnotationAssertion(Annotation( "HP:0003008") AnnotationAssertion( "HP:0006741") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Abnormal tissue mass") -AnnotationAssertion( "MSH:D009369") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:108369006") AnnotationAssertion( "SNOMEDCT_US:363346000") @@ -47681,7 +46867,6 @@ SubClassOf( (Lymphoma) AnnotationAssertion(Annotation( ) "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.") -AnnotationAssertion( "MSH:D008223") AnnotationAssertion( "NCIT:C7065") AnnotationAssertion( "SNOMEDCT_US:115244002") AnnotationAssertion( "SNOMEDCT_US:118600007") @@ -47696,7 +46881,6 @@ SubClassOf( (Pheochromocytoma) AnnotationAssertion(Annotation( ) "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.") -AnnotationAssertion( "MSH:D010673") AnnotationAssertion( "NCIT:C3326") AnnotationAssertion( "SNOMEDCT_US:302835009") AnnotationAssertion( "SNOMEDCT_US:399343007") @@ -47712,7 +46896,6 @@ SubClassOf( ) "The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.") AnnotationAssertion( "HP:0000115") -AnnotationAssertion( "MSH:D009396") AnnotationAssertion( "NCIT:C40407") AnnotationAssertion( "SNOMEDCT_US:25081006") AnnotationAssertion( "SNOMEDCT_US:302849000") @@ -47729,7 +46912,6 @@ SubClassOf( ) "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.") AnnotationAssertion( "HP:0002670") AnnotationAssertion( "HP:0003004") -AnnotationAssertion( "MSH:D010235") AnnotationAssertion( "NCIT:C3308") AnnotationAssertion( "SNOMEDCT_US:127027008") AnnotationAssertion( "SNOMEDCT_US:253029009") @@ -47747,7 +46929,6 @@ SubClassOf( (Osteosarcoma) AnnotationAssertion(Annotation( ) "A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.") -AnnotationAssertion( "MSH:D012516") AnnotationAssertion( "NCIT:C9145") AnnotationAssertion( "SNOMEDCT_US:21708004") AnnotationAssertion( "SNOMEDCT_US:307576001") @@ -47762,7 +46943,6 @@ SubClassOf( (Basal cell carcinoma) AnnotationAssertion(Annotation( ) "The presence of a basal cell carcinoma of the skin.") -AnnotationAssertion( "MSH:D002280") AnnotationAssertion( "NCIT:C2921") AnnotationAssertion( "SNOMEDCT_US:1338007") AnnotationAssertion( "SNOMEDCT_US:254701007") @@ -47789,7 +46969,6 @@ SubClassOf( (Coxa valga) AnnotationAssertion(Annotation( ) Annotation( ) "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).") -AnnotationAssertion( "MSH:D060906") AnnotationAssertion( "SNOMEDCT_US:299236004") AnnotationAssertion( "UMLS:C0239137") AnnotationAssertion( "UMLS:C3549698") @@ -48047,7 +47226,6 @@ SubClassOf( ) "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.") AnnotationAssertion(Annotation( ) Annotation( ) "Flattening of the skull base") -AnnotationAssertion( "MSH:D010985") AnnotationAssertion( "SNOMEDCT_US:86587003") AnnotationAssertion( "UMLS:C0032209") AnnotationAssertion(Annotation( ) "Increased basal angle of skull base") @@ -48321,7 +47499,6 @@ SubClassOf( ) "Enlargement (swelling) of a lymph node.") AnnotationAssertion( "HP:0002735") -AnnotationAssertion( "MSH:D000072281") AnnotationAssertion( "SNOMEDCT_US:30746006") AnnotationAssertion( "UMLS:C0497156") AnnotationAssertion( "Lymph node hyperplasia") @@ -48394,7 +47571,6 @@ AnnotationAssertion( "HP:0005399") AnnotationAssertion( "HP:0005431") AnnotationAssertion( "HP:0008350") -AnnotationAssertion( "MSH:D017098") AnnotationAssertion( "SNOMEDCT_US:29260007") AnnotationAssertion( "UMLS:C0162538") AnnotationAssertion( "Decreased IgA") @@ -48414,7 +47590,6 @@ SubClassOf( "PMID:20042227") "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.") AnnotationAssertion( "HP:0005362") AnnotationAssertion( "HP:0005371") -AnnotationAssertion( "MSH:D007153") AnnotationAssertion( "SNOMEDCT_US:234532001") AnnotationAssertion( "UMLS:C0021051") AnnotationAssertion(Annotation( ) Annotation( ) "Decreased immune function") @@ -48453,7 +47628,6 @@ SubClassOf( (Systemic lupus erythematosus) AnnotationAssertion(Annotation( ) "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.") -AnnotationAssertion( "MSH:D008180") AnnotationAssertion( "SNOMEDCT_US:55464009") AnnotationAssertion( "UMLS:C0024141") AnnotationAssertion(Annotation( ) "SLE") @@ -48475,7 +47649,6 @@ SubClassOf( ) Annotation( "PMID:20859203") "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.") AnnotationAssertion( "HP:0005392") -AnnotationAssertion( "MSH:D002178") AnnotationAssertion( "SNOMEDCT_US:234568006") AnnotationAssertion( "UMLS:C0006845") AnnotationAssertion( "Chronic candidiasis of mucosa, skin and nails") @@ -48566,7 +47739,6 @@ SubClassOf( (Recurrent E. coli infections) AnnotationAssertion(Annotation( ) "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.") -AnnotationAssertion( "MSH:D004927") AnnotationAssertion( "SNOMEDCT_US:71057007") AnnotationAssertion( "UMLS:C0014836") AnnotationAssertion( "E coli infections") @@ -48610,8 +47782,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Oral leukoplakia) AnnotationAssertion(Annotation( ) Annotation( "PMID:17944749") "A thickened white patch on the oral mucosa that cannot be rubbed off.") -AnnotationAssertion( "MSH:D007971") -AnnotationAssertion( "MSH:D007972") AnnotationAssertion( "SNOMEDCT_US:414603003") AnnotationAssertion( "SNOMEDCT_US:9187004") AnnotationAssertion( "UMLS:C0023532") @@ -48649,7 +47819,6 @@ SubClassOf( (Rickets) AnnotationAssertion(Annotation( "GARD:0005700") "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.") -AnnotationAssertion( "MSH:D012279") AnnotationAssertion( "SNOMEDCT_US:41345002") AnnotationAssertion( "UMLS:C0035579") AnnotationAssertion(Annotation( ) Annotation( ) "Weak and soft bones") @@ -48726,7 +47895,6 @@ SubClassOf( ) Annotation( "PMID:15276398") "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.") AnnotationAssertion( "HP:0002755") AnnotationAssertion( "HP:0005901") -AnnotationAssertion( "MSH:D010019") AnnotationAssertion( "SNOMEDCT_US:111253001") AnnotationAssertion( "SNOMEDCT_US:60168000") AnnotationAssertion( "UMLS:C0029443") @@ -48750,7 +47918,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.") AnnotationAssertion( "HP:0005633") -AnnotationAssertion( "MSH:D005598") AnnotationAssertion( "SNOMEDCT_US:22640007") AnnotationAssertion( "SNOMEDCT_US:268029009") AnnotationAssertion( "UMLS:C0016663") @@ -48768,7 +47935,6 @@ AnnotationAssertion(Annotation( "HP:0002660") AnnotationAssertion( "HP:0002767") AnnotationAssertion( "HP:0002809") -AnnotationAssertion( "MSH:D000069076") AnnotationAssertion( "SNOMEDCT_US:134291007") AnnotationAssertion( "SNOMEDCT_US:5468008") AnnotationAssertion( "UMLS:C0016655") @@ -48794,7 +47960,6 @@ AnnotationAssertion( "HP:0001379") AnnotationAssertion( "HP:0002824") AnnotationAssertion( "HP:0005762") -AnnotationAssertion( "MSH:D010003") AnnotationAssertion( "SNOMEDCT_US:225655006") AnnotationAssertion( "SNOMEDCT_US:396275006") AnnotationAssertion( "UMLS:C0029408") @@ -48819,7 +47984,6 @@ SubClassOf( (Multiple exostoses) AnnotationAssertion(Annotation( ) "Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.") -AnnotationAssertion( "MSH:D005097") AnnotationAssertion( "SNOMEDCT_US:254044004") AnnotationAssertion( "UMLS:C0015306") AnnotationAssertion( "HP:0002762") @@ -48867,7 +48031,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Tracheal stenosis) -AnnotationAssertion( "MSH:D014135") AnnotationAssertion( "SNOMEDCT_US:11296007") AnnotationAssertion( "UMLS:C0040583") AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of windpipe") @@ -48879,7 +48042,6 @@ SubClassOf( (Abnormal tracheal morphology) AnnotationAssertion(Annotation( ) "A structural anomaly of the trachea.") -AnnotationAssertion( "MSH:D014133") AnnotationAssertion( "SNOMEDCT_US:47125007") AnnotationAssertion( "UMLS:C0040580") AnnotationAssertion( "UMLS:C4025678") @@ -48893,7 +48055,6 @@ SubClassOf( (Tracheomalacia) -AnnotationAssertion( "MSH:D055090") AnnotationAssertion( "SNOMEDCT_US:95434006") AnnotationAssertion( "UMLS:C0948187") AnnotationAssertion(Annotation( ) Annotation( ) "Floppy windpipe") @@ -48904,7 +48065,6 @@ SubClassOf( (Bronchomalacia) AnnotationAssertion(Annotation( "PMID:15764786") "Weakness or softness of the cartilage in the walls of the bronchial tubes.") -AnnotationAssertion( "MSH:D055091") AnnotationAssertion( "SNOMEDCT_US:54203008") AnnotationAssertion( "UMLS:C0264353") AnnotationAssertion( "HP:0002780") @@ -48942,7 +48102,6 @@ SubClassOf( (Tracheobronchomalacia) AnnotationAssertion(Annotation( ) "Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.") -AnnotationAssertion( "MSH:D055089") AnnotationAssertion( "SNOMEDCT_US:233788001") AnnotationAssertion( "UMLS:C0340231") AnnotationAssertion( "HP:0002786") @@ -48990,7 +48149,6 @@ SubClassOf( ) "Very rapid breathing.") AnnotationAssertion( "HP:0002874") AnnotationAssertion( "HP:0004346") -AnnotationAssertion( "MSH:D059246") AnnotationAssertion( "SNOMEDCT_US:271823003") AnnotationAssertion( "UMLS:C0231835") AnnotationAssertion(Annotation( ) "Increased respiratory rate or depth of breathing") @@ -49013,8 +48171,6 @@ SubClassOf( ) "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).") AnnotationAssertion( "HP:0004892") -AnnotationAssertion( "MSH:D007040") -AnnotationAssertion( "MSH:D012131") AnnotationAssertion( "SNOMEDCT_US:15993004") AnnotationAssertion( "SNOMEDCT_US:31515003") AnnotationAssertion( "SNOMEDCT_US:80954004") @@ -49071,7 +48227,6 @@ SubClassOf( ) "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.") AnnotationAssertion( "HP:0010737") -AnnotationAssertion( "MSH:D010014") AnnotationAssertion( "SNOMEDCT_US:203522001") AnnotationAssertion( "SNOMEDCT_US:30425001") AnnotationAssertion( "UMLS:C0221204") @@ -49104,7 +48259,6 @@ AnnotationAssertion( "HP:0005663") AnnotationAssertion( "HP:0005809") AnnotationAssertion( "HP:0005859") -AnnotationAssertion( "MSH:D001176") AnnotationAssertion( "SNOMEDCT_US:111246005") AnnotationAssertion( "SNOMEDCT_US:77016009") AnnotationAssertion( "UMLS:C0003886") @@ -49130,7 +48284,6 @@ SubClassOf( ) "Exaggerated anterior convexity of the thoracic vertebral column.") AnnotationAssertion( "HP:0002769") AnnotationAssertion( "HP:0003314") -AnnotationAssertion( "MSH:D007738") AnnotationAssertion( "SNOMEDCT_US:414564002") AnnotationAssertion( "UMLS:C0022821") AnnotationAssertion( "UMLS:C1845112") @@ -49159,7 +48312,6 @@ SubClassOf( (Coxa vara) AnnotationAssertion(Annotation( ) "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.") -AnnotationAssertion( "MSH:D060905") AnnotationAssertion( "SNOMEDCT_US:74820003") AnnotationAssertion( "UMLS:C0239138") AnnotationAssertion( "HP:0002812") @@ -49247,7 +48399,6 @@ SubClassOf( (Neuropathic arthropathy) -AnnotationAssertion( "MSH:D001177") AnnotationAssertion( "SNOMEDCT_US:359554008") AnnotationAssertion( "SNOMEDCT_US:67536000") AnnotationAssertion( "UMLS:C0003892") @@ -49306,7 +48457,6 @@ SubClassOf( ) "Displacement of the femur from its normal location in the hip joint.") AnnotationAssertion( "HP:0001375") AnnotationAssertion( "HP:0008826") -AnnotationAssertion( "MSH:D006617") AnnotationAssertion( "SNOMEDCT_US:157265008") AnnotationAssertion( "UMLS:C0019554") AnnotationAssertion( "Dislocated femoral heads") @@ -49332,7 +48482,6 @@ SubClassOf( (Arthralgia) AnnotationAssertion(Annotation( ) "Joint pain.") -AnnotationAssertion( "MSH:D018771") AnnotationAssertion( "SNOMEDCT_US:57676002") AnnotationAssertion( "UMLS:C0003862") AnnotationAssertion( "Arthralgias") @@ -49399,7 +48548,6 @@ SubClassOf( (Bladder exstrophy) AnnotationAssertion(Annotation( ) Annotation( "PMID:23650202") "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.") -AnnotationAssertion( "MSH:D001746") AnnotationAssertion( "SNOMEDCT_US:61758007") AnnotationAssertion( "UMLS:C0005689") AnnotationAssertion(Annotation( ) "Ectopia vesicae") @@ -49436,7 +48584,6 @@ SubClassOf( (Lymphadenitis) AnnotationAssertion(Annotation( ) "Inflammation of a lymph node.") -AnnotationAssertion( "MSH:D008199") AnnotationAssertion( "SNOMEDCT_US:19471005") AnnotationAssertion( "UMLS:C0024205") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the lymph nodes") @@ -49575,7 +48722,6 @@ SubClassOf( ) "The legs angle inward, such that the knees are close together and the ankles far apart.") AnnotationAssertion( "HP:0004999") AnnotationAssertion(Annotation(rdfs:label "Knock-knee") "MEDDRA:10023480") -AnnotationAssertion( "MSH:D056304") AnnotationAssertion( "SNOMEDCT_US:299330008") AnnotationAssertion( "UMLS:C0576093") AnnotationAssertion( "Genu valga") @@ -49594,7 +48740,6 @@ SubClassOf( ) "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.") AnnotationAssertion( "HP:0006754") AnnotationAssertion(Annotation( ) Annotation( ) "Noncancerous growth of membranes covering brain") -AnnotationAssertion( "MSH:D008579") AnnotationAssertion( "NCIT:C3230") AnnotationAssertion( "UMLS:C0025286") AnnotationAssertion( "HP:0002858") @@ -49604,7 +48749,6 @@ SubClassOf( (Rhabdomyosarcoma) -AnnotationAssertion( "MSH:D012208") AnnotationAssertion( "NCIT:C3359") AnnotationAssertion( "SNOMEDCT_US:302847003") AnnotationAssertion( "SNOMEDCT_US:30924005") @@ -49618,8 +48762,6 @@ SubClassOf( ) "The presence of squamous cell carcinoma of the skin.") AnnotationAssertion(Annotation( ) "Squamous cell cancer") -AnnotationAssertion( "MSH:D002294") -AnnotationAssertion( "MSH:D018307") AnnotationAssertion( "NCIT:C2929") AnnotationAssertion( "SNOMEDCT_US:28899001") AnnotationAssertion( "SNOMEDCT_US:402815007") @@ -49637,7 +48779,6 @@ AnnotationAssertion( "HP:0007474") AnnotationAssertion(Annotation( ) Annotation( ) "Cancer of skin pigment cells") AnnotationAssertion(Annotation( ) "Skin cancer (melanoma)") -AnnotationAssertion( "MSH:D008545") AnnotationAssertion( "NCIT:C3224") AnnotationAssertion( "SNOMEDCT_US:2092003") AnnotationAssertion( "SNOMEDCT_US:372244006") @@ -49663,7 +48804,6 @@ SubClassOf( ) "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.") AnnotationAssertion( "HP:0004832") AnnotationAssertion( "HP:0006730") -AnnotationAssertion( "MSH:D009190") AnnotationAssertion( "SNOMEDCT_US:109995007") AnnotationAssertion( "SNOMEDCT_US:128623006") AnnotationAssertion( "SNOMEDCT_US:188736006") @@ -49687,7 +48827,6 @@ SubClassOf( ) "The presence of a medullary carcinoma of the thyroid gland.") AnnotationAssertion(Annotation( ) "Medullary thyroid cancer") -AnnotationAssertion( "MSH:C536914") AnnotationAssertion( "NCIT:C3879") AnnotationAssertion( "SNOMEDCT_US:128916007") AnnotationAssertion( "SNOMEDCT_US:255032005") @@ -49757,7 +48896,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D020181") AnnotationAssertion( "SNOMEDCT_US:78275009") AnnotationAssertion( "UMLS:C0520679") AnnotationAssertion( "Obstructive sleep apnoea") @@ -49768,7 +48906,6 @@ SubClassOf( (Central apnea) AnnotationAssertion(Annotation( ) "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.") -AnnotationAssertion( "MSH:D020182") AnnotationAssertion( "UMLS:C0520680") AnnotationAssertion( "Central apnoea") AnnotationAssertion( "HP:0002871") @@ -49822,7 +48959,6 @@ SubClassOf( ) "A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.") AnnotationAssertion( "HP:0004877") -AnnotationAssertion( "MSH:D012131") AnnotationAssertion( "SNOMEDCT_US:409622000") AnnotationAssertion( "UMLS:C1145670") AnnotationAssertion(Annotation( ) "Respiratory failure") @@ -49857,7 +48993,6 @@ SubClassOf( (Hyperventilation) AnnotationAssertion(Annotation( ) "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.") -AnnotationAssertion( "MSH:D006985") AnnotationAssertion( "SNOMEDCT_US:68978004") AnnotationAssertion( "UMLS:C0020578") AnnotationAssertion(Annotation( ) Annotation( ) "Rapid breathing") @@ -49869,7 +49004,6 @@ SubClassOf( (Hepatoblastoma) AnnotationAssertion(Annotation( ) Annotation( "eMedicine:986802") "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.") -AnnotationAssertion( "MSH:D018197") AnnotationAssertion( "NCIT:C3728") AnnotationAssertion( "SNOMEDCT_US:109843000") AnnotationAssertion( "SNOMEDCT_US:45024009") @@ -49883,7 +49017,6 @@ SubClassOf( (Medulloblastoma) AnnotationAssertion(Annotation( ) "A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.") -AnnotationAssertion( "MSH:D008527") AnnotationAssertion( "NCIT:C3222") AnnotationAssertion( "SNOMEDCT_US:443333004") AnnotationAssertion( "SNOMEDCT_US:83217000") @@ -49910,7 +49043,6 @@ SubClassOf( (Ependymoma) AnnotationAssertion(Annotation( ) "The presence of an ependymoma of the central nervous system.") -AnnotationAssertion( "MSH:D004806") AnnotationAssertion( "NCIT:C3017") AnnotationAssertion( "SNOMEDCT_US:443643007") AnnotationAssertion( "SNOMEDCT_US:57706008") @@ -49923,7 +49055,6 @@ SubClassOf( (Thyroid carcinoma) AnnotationAssertion(Annotation( ) "The presence of a carcinoma of the thyroid gland.") -AnnotationAssertion( "MSH:D013964") AnnotationAssertion( "NCIT:C2916") AnnotationAssertion( "UMLS:C0549473") AnnotationAssertion( "HP:0002890") @@ -49946,7 +49077,6 @@ SubClassOf( ) Annotation( "PMID:32119338") "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).") AnnotationAssertion(Annotation(rdfs:label "Pituitary adenoma") "ICD-O:M8272/0") -AnnotationAssertion( "MSH:D010911") AnnotationAssertion( "NCIT:C2855") AnnotationAssertion( "SNOMEDCT_US:128664001") AnnotationAssertion( "SNOMEDCT_US:254956000") @@ -49965,7 +49095,6 @@ AnnotationAssertion(Annotation( "HP:0004511") AnnotationAssertion(Annotation( ) "Cancer of the pancreas") AnnotationAssertion(Annotation( ) "Pancreatic cancer") -AnnotationAssertion( "MSH:D010190") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126859007") AnnotationAssertion( "SNOMEDCT_US:363418001") @@ -49984,7 +49113,6 @@ SubClassOf( (Papillary thyroid carcinoma) AnnotationAssertion(Annotation( ) "The presence of a papillary adenocarcinoma of the thyroid gland.") -AnnotationAssertion( "MSH:C536915") AnnotationAssertion( "NCIT:C2853") AnnotationAssertion( "SNOMEDCT_US:255029007") AnnotationAssertion( "UMLS:C0238463") @@ -49997,7 +49125,6 @@ SubClassOf( (Neoplasm of the liver) AnnotationAssertion(Annotation( ) "A tumor (abnormal growth of tissue) of the liver.") -AnnotationAssertion( "MSH:D008113") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126851005") AnnotationAssertion( "SNOMEDCT_US:93870000") @@ -50016,7 +49143,6 @@ SubClassOf( ) "A benign tumor of the parathyroid gland that can cause hyperparathyroidism.") AnnotationAssertion( "HP:0008257") AnnotationAssertion(Annotation(rdfs:label "Benign neoplasm: Parathyroid gland") "ICD-10:D35.1") -AnnotationAssertion( "MSH:D010282") AnnotationAssertion( "NCIT:C2855") AnnotationAssertion( "SNOMEDCT_US:128474007") AnnotationAssertion( "UMLS:C0262587") @@ -50027,7 +49153,6 @@ SubClassOf( (Embryonal neoplasm) -AnnotationAssertion( "MSH:D009373") AnnotationAssertion( "UMLS:C0027654") AnnotationAssertion( "Embryonal neoplasia") AnnotationAssertion( "Embryonal tumors") @@ -50039,7 +49164,6 @@ SubClassOf( (Hypokalemia) AnnotationAssertion(Annotation( ) "An abnormally decreased potassium concentration in the blood.") -AnnotationAssertion( "MSH:D007008") AnnotationAssertion( "SNOMEDCT_US:166690008") AnnotationAssertion( "SNOMEDCT_US:43339004") AnnotationAssertion( "UMLS:C0020621") @@ -50052,7 +49176,6 @@ SubClassOf( (Hypocalcemia) AnnotationAssertion(Annotation( ) "An abnormally decreased calcium concentration in the blood.") -AnnotationAssertion( "MSH:D006996") AnnotationAssertion( "SNOMEDCT_US:5291005") AnnotationAssertion( "UMLS:C0020598") AnnotationAssertion( "Hypocalcaemia") @@ -50065,7 +49188,6 @@ SubClassOf( (Hyponatremia) AnnotationAssertion(Annotation( ) "An abnormally decreased sodium concentration in the blood.") -AnnotationAssertion( "MSH:D007010") AnnotationAssertion( "SNOMEDCT_US:89627008") AnnotationAssertion( "UMLS:C0020625") AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sodium levels") @@ -50088,7 +49210,6 @@ SubClassOf( (Hyperphosphatemia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An abnormally increased phosphate concentration in the blood.") -AnnotationAssertion( "MSH:D054559") AnnotationAssertion( "SNOMEDCT_US:20165001") AnnotationAssertion( "UMLS:C0085681") AnnotationAssertion( "UMLS:C0553706") @@ -50145,7 +49266,6 @@ AnnotationAssertion( "HP:0006578") AnnotationAssertion( "HP:0008267") AnnotationAssertion( "HP:0008342") -AnnotationAssertion( "MSH:D008107") AnnotationAssertion( "SNOMEDCT_US:166603001") AnnotationAssertion( "SNOMEDCT_US:166643006") AnnotationAssertion( "SNOMEDCT_US:75183008") @@ -50181,7 +49301,6 @@ SubClassOf( ) Annotation( "PMID:26101005") "Increased concentration of methylmalonic acid in the blood.") AnnotationAssertion( "HP:0003123") AnnotationAssertion( "HP:0008295") -AnnotationAssertion( "MSH:C537358") AnnotationAssertion( "SNOMEDCT_US:42393006") AnnotationAssertion( "UMLS:C0268583") AnnotationAssertion( "Elevated circulating methylmalonic acid concentration") @@ -50196,7 +49315,6 @@ SubClassOf( (Myoglobinuria) AnnotationAssertion(Annotation( ) "Presence of myoglobin in the urine.") -AnnotationAssertion( "MSH:D009212") AnnotationAssertion( "SNOMEDCT_US:48165008") AnnotationAssertion( "UMLS:C0027080") AnnotationAssertion( "HP:0002913") @@ -50252,7 +49370,6 @@ SubClassOf( (Ketonuria) AnnotationAssertion(Annotation( ) Annotation( "PMID:11344564") "High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.") -AnnotationAssertion( "MSH:D007662") AnnotationAssertion( "SNOMEDCT_US:274783007") AnnotationAssertion( "SNOMEDCT_US:36815008") AnnotationAssertion( "UMLS:C0162275") @@ -50353,7 +49470,6 @@ SubClassOf( ) Annotation( "PMID:18901181") Annotation( "PMID:20240447") "An increased concentration of histidine in the urine.") AnnotationAssertion( "HP:0010905") -AnnotationAssertion( "MSH:C538321") AnnotationAssertion( "SNOMEDCT_US:78311009") AnnotationAssertion( "UMLS:C0268642") AnnotationAssertion( "Elevated histidine in urine") @@ -50386,7 +49502,6 @@ AnnotationAssertion(Annotation( "HP:0008215") AnnotationAssertion( "HP:0008243") AnnotationAssertion( "HP:0008262") -AnnotationAssertion( "MSH:D018382") AnnotationAssertion( "SNOMEDCT_US:111567006") AnnotationAssertion( "SNOMEDCT_US:237559000") AnnotationAssertion( "SNOMEDCT_US:237560005") @@ -50416,7 +49531,6 @@ SubClassOf( (Ventral hernia) AnnotationAssertion(Annotation( ) Annotation( ) "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.") -AnnotationAssertion( "MSH:D006555") AnnotationAssertion( "SNOMEDCT_US:414396006") AnnotationAssertion( "UMLS:C0019326") AnnotationAssertion( "HP:0002933") @@ -50643,7 +49757,6 @@ SubClassOf( (Autoimmunity) AnnotationAssertion(Annotation( ) "The occurrence of an immune reaction against the organism's own cells or tissues.") -AnnotationAssertion( "MSH:D001327") AnnotationAssertion( "SNOMEDCT_US:85828009") AnnotationAssertion( "UMLS:C0004364") AnnotationAssertion( "Autoimmune condition") @@ -50658,7 +49771,6 @@ SubClassOf( (Dysgammaglobulinemia) AnnotationAssertion(Annotation( ) "Selective deficiency of one or more, but not all, classes of immunoglobulins.") -AnnotationAssertion( "MSH:D004406") AnnotationAssertion( "SNOMEDCT_US:123782009") AnnotationAssertion( "UMLS:C0013374") AnnotationAssertion( "HP:0002961") @@ -50701,7 +49813,6 @@ SubClassOf( ) "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.") AnnotationAssertion( "HP:0003052") -AnnotationAssertion( "MSH:D056305") AnnotationAssertion( "SNOMEDCT_US:299331007") AnnotationAssertion( "UMLS:C0544755") AnnotationAssertion( "Genu vara") @@ -50751,7 +49862,6 @@ SubClassOf( ) "An abnormal osseous union (fusion) between the radius and the ulna.") AnnotationAssertion( "HP:0003962") AnnotationAssertion(Annotation(rdfs:label "Radioulnar synostosis") "MEDDRA:10037798") -AnnotationAssertion( "MSH:C562408") AnnotationAssertion( "SNOMEDCT_US:33313004") AnnotationAssertion( "UMLS:C0158761") AnnotationAssertion(Annotation( ) "Fused forearm bones") @@ -50781,7 +49891,6 @@ SubClassOf( ) "A bending or abnormal curvature affecting a long bone of the leg.") AnnotationAssertion( "HP:0006428") -AnnotationAssertion( "MSH:D056305") AnnotationAssertion( "SNOMEDCT_US:299331007") AnnotationAssertion( "UMLS:C0544755") AnnotationAssertion( "Bow legs") @@ -50978,7 +50087,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Patellar dislocation) AnnotationAssertion(Annotation( ) "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.") -AnnotationAssertion( "MSH:D031222") AnnotationAssertion( "SNOMEDCT_US:263029007") AnnotationAssertion( "UMLS:C1135812") AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated kneecap") @@ -50992,7 +50100,6 @@ SubClassOf( (Glomus jugular tumor) -AnnotationAssertion( "MSH:D005925") AnnotationAssertion( "SNOMEDCT_US:127030001") AnnotationAssertion( "SNOMEDCT_US:32037004") AnnotationAssertion( "UMLS:C0017671") @@ -51008,7 +50115,6 @@ SubClassOf( (Breast carcinoma) AnnotationAssertion(Annotation( ) "The presence of a carcinoma of the breast.") -AnnotationAssertion( "MSH:D001943") AnnotationAssertion( "NCIT:C2916") AnnotationAssertion( "SNOMEDCT_US:254838004") AnnotationAssertion( "UMLS:C0678222") @@ -51020,7 +50126,6 @@ SubClassOf( (Colon cancer) AnnotationAssertion( "HP:0006718") -AnnotationAssertion( "MSH:D003110") AnnotationAssertion( "SNOMEDCT_US:363406005") AnnotationAssertion( "UMLS:C0007102") AnnotationAssertion(Annotation( ) "Colon cancer") @@ -51031,7 +50136,6 @@ SubClassOf( (Ganglioneuroma) AnnotationAssertion(Annotation( ) "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.") -AnnotationAssertion( "MSH:D005729") AnnotationAssertion( "SNOMEDCT_US:116371000119107") AnnotationAssertion( "SNOMEDCT_US:128919000") AnnotationAssertion( "SNOMEDCT_US:53801007") @@ -51045,7 +50149,6 @@ SubClassOf( ) "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.") AnnotationAssertion( "HP:0006738") -AnnotationAssertion( "MSH:D009447") AnnotationAssertion( "NCIT:C3270") AnnotationAssertion( "SNOMEDCT_US:432328008") AnnotationAssertion( "SNOMEDCT_US:87364003") @@ -51172,7 +50275,6 @@ AnnotationAssertion( "HP:0005842") AnnotationAssertion( "HP:0006388") AnnotationAssertion( "HP:0006444") -AnnotationAssertion( "MSH:C538069") AnnotationAssertion( "UMLS:C1860614") AnnotationAssertion( "UMLS:C1862132") AnnotationAssertion( "Hypoplastic ulna") @@ -51304,7 +50406,6 @@ SubClassOf( ) "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.") AnnotationAssertion( "HP:0005611") -AnnotationAssertion( "MSH:D003966") AnnotationAssertion( "SNOMEDCT_US:318761000119105") AnnotationAssertion( "SNOMEDCT_US:34643004") AnnotationAssertion( "UMLS:C0011989") @@ -51349,7 +50450,6 @@ SubClassOf( (Arthropathy) -AnnotationAssertion( "MSH:D007592") AnnotationAssertion( "SNOMEDCT_US:399269003") AnnotationAssertion( "UMLS:C0022408") AnnotationAssertion(Annotation( ) Annotation( ) "Disease of the joints") @@ -51361,7 +50461,6 @@ SubClassOf( ) "An abnormal osseous union (fusion) between the radius and the humerus.") AnnotationAssertion( "HP:0003936") -AnnotationAssertion( "MSH:C535284") AnnotationAssertion( "SNOMEDCT_US:205329008") AnnotationAssertion( "UMLS:C1863360") AnnotationAssertion( "UMLS:C2930865") @@ -51477,7 +50576,6 @@ SubClassOf( (Tetraamelia) AnnotationAssertion(Annotation( ) "Amelia of all four limbs.") -AnnotationAssertion( "MSH:C536498") AnnotationAssertion( "SNOMEDCT_US:702313004") AnnotationAssertion( "UMLS:C2931216") AnnotationAssertion(Annotation( ) "Tetra-amelia") @@ -51532,7 +50630,6 @@ SubClassOf( (Madelung deformity) AnnotationAssertion(Annotation( ) Annotation( "PMID:12362035") "An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.") -AnnotationAssertion( "MSH:C562398") AnnotationAssertion( "SNOMEDCT_US:4530000") AnnotationAssertion( "UMLS:C0152441") AnnotationAssertion( "Madelung wrist deformity") @@ -51576,7 +50673,6 @@ SubClassOf( ) "An abnormally increased calcium concentration in the blood.") AnnotationAssertion( "HP:0008250") -AnnotationAssertion( "MSH:D006934") AnnotationAssertion( "SNOMEDCT_US:166702002") AnnotationAssertion( "SNOMEDCT_US:66931009") AnnotationAssertion( "UMLS:C0020437") @@ -51592,7 +50688,6 @@ SubClassOf( ) "Reduction in the concentration of albumin in the blood.") AnnotationAssertion(Annotation( ) "Low albumin") -AnnotationAssertion( "MSH:D034141") AnnotationAssertion( "SNOMEDCT_US:119247004") AnnotationAssertion( "UMLS:C0239981") AnnotationAssertion( "Hypoalbuminaemia") @@ -51605,7 +50700,6 @@ SubClassOf( (Hyperglycemia) AnnotationAssertion(Annotation( ) "An increased concentration of glucose in the blood.") -AnnotationAssertion( "MSH:D006943") AnnotationAssertion( "SNOMEDCT_US:237598005") AnnotationAssertion( "SNOMEDCT_US:80394007") AnnotationAssertion( "UMLS:C0020456") @@ -51619,7 +50713,6 @@ SubClassOf( (Hypoproteinemia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "A decreased concentration of protein in the blood.") -AnnotationAssertion( "MSH:D007019") AnnotationAssertion( "SNOMEDCT_US:8900005") AnnotationAssertion( "UMLS:C0020639") AnnotationAssertion(Annotation( ) Annotation( ) "Decreased protein levels in blood") @@ -51633,7 +50726,6 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of glucose in the urine.") AnnotationAssertion( "HP:0003122") AnnotationAssertion( "HP:0011016") -AnnotationAssertion( "MSH:D006029") AnnotationAssertion( "SNOMEDCT_US:45154002") AnnotationAssertion( "UMLS:C0017979") AnnotationAssertion(Annotation( ) Annotation( ) "Glucose in urine") @@ -51649,7 +50741,6 @@ SubClassOf( ) "An elevated lipid concentration in the blood.") AnnotationAssertion( "HP:0008159") AnnotationAssertion( "HP:0008356") -AnnotationAssertion( "MSH:D006949") AnnotationAssertion( "SNOMEDCT_US:55822004") AnnotationAssertion( "UMLS:C0020473") AnnotationAssertion(Annotation( ) Annotation( ) "Elevated lipids in blood") @@ -51806,7 +50897,6 @@ SubClassOf( ) AnnotationAssertion(Annotation( ) Annotation( ) "Infected joint") -AnnotationAssertion( "MSH:D001170") AnnotationAssertion( "SNOMEDCT_US:372939007") AnnotationAssertion( "SNOMEDCT_US:396234004") AnnotationAssertion( "UMLS:C0003869") @@ -51919,7 +51009,6 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") Annotation( "PMID:18901181") Annotation( "PMID:20240447") "An increased concentration of glycine in the urine.") AnnotationAssertion( "HP:0002931") -AnnotationAssertion( "MSH:C563009") AnnotationAssertion( "SNOMEDCT_US:236477004") AnnotationAssertion( "UMLS:C0341706") AnnotationAssertion( "UMLS:C0543541") @@ -52041,7 +51130,6 @@ AnnotationAssertion(Annotation( "HP:0000850") AnnotationAssertion( "HP:0001578") AnnotationAssertion( "HP:0004316") -AnnotationAssertion( "MSH:D000308") AnnotationAssertion( "SNOMEDCT_US:237735008") AnnotationAssertion( "SNOMEDCT_US:275437005") AnnotationAssertion( "SNOMEDCT_US:47270006") @@ -52062,7 +51150,6 @@ SubClassOf( ) "Any deviation from the normal concentration of a lipid in the blood circulation.") AnnotationAssertion( "HP:0003611") -AnnotationAssertion( "MSH:D050171") AnnotationAssertion( "SNOMEDCT_US:370992007") AnnotationAssertion( "UMLS:C0242339") AnnotationAssertion( "UMLS:C4025650") @@ -52093,7 +51180,6 @@ AnnotationAssertion( "HP:0008173") AnnotationAssertion( "HP:0008359") AnnotationAssertion(Annotation( ) "High cholesterol") -AnnotationAssertion( "MSH:D006937") AnnotationAssertion( "SNOMEDCT_US:13644009") AnnotationAssertion( "SNOMEDCT_US:166830008") AnnotationAssertion( "UMLS:C0020443") @@ -52111,7 +51197,6 @@ SubClassOf( ) "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.") AnnotationAssertion( "HP:0008349") AnnotationAssertion( "HP:0008355") -AnnotationAssertion( "MSH:D006467") AnnotationAssertion( "SNOMEDCT_US:234440005") AnnotationAssertion( "UMLS:C3494187") AnnotationAssertion( "UMLS:C4025649") @@ -52145,7 +51230,6 @@ SubClassOf( ) "An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.") AnnotationAssertion( "HP:0003255") AnnotationAssertion( "HP:0005960") -AnnotationAssertion( "MSH:D000140") AnnotationAssertion( "SNOMEDCT_US:190882007") AnnotationAssertion( "SNOMEDCT_US:91273001") AnnotationAssertion( "UMLS:C0001125") @@ -52176,7 +51260,6 @@ SubClassOf( (Cystinuria) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of cystine in the urine.") -AnnotationAssertion( "MSH:D003555") AnnotationAssertion( "SNOMEDCT_US:85020001") AnnotationAssertion( "UMLS:C0010691") AnnotationAssertion(Annotation( ) Annotation( ) "High urine cystine levels") @@ -52255,7 +51338,6 @@ SubClassOf( ) "An elevated concentration of low-density lipoprotein cholesterol in the blood.") AnnotationAssertion( "HP:0008343") -AnnotationAssertion( "MSH:D006938") AnnotationAssertion( "SNOMEDCT_US:190773008") AnnotationAssertion( "SNOMEDCT_US:398036000") AnnotationAssertion( "UMLS:C0020445") @@ -52413,7 +51495,6 @@ SubClassOf( (Hyperoxaluria) AnnotationAssertion(Annotation( ) "Increased excretion of oxalates in the urine.") -AnnotationAssertion( "MSH:D006959") AnnotationAssertion( "SNOMEDCT_US:367621000119107") AnnotationAssertion( "UMLS:C0020500") AnnotationAssertion(Annotation( ) Annotation( ) "High urine oxalate levels") @@ -52446,7 +51527,6 @@ SubClassOf( (Fasting hypoglycemia) -AnnotationAssertion( "MSH:D007003") AnnotationAssertion( "SNOMEDCT_US:6974005") AnnotationAssertion( "UMLS:C0271708") AnnotationAssertion(Annotation( ) Annotation( ) "Low blood sugar when fasting") @@ -52733,7 +51813,6 @@ SubClassOf( (Allergic rhinitis) AnnotationAssertion(Annotation( "PMID:11449200") "It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.") -AnnotationAssertion( "MSH:D065631") AnnotationAssertion( "SNOMEDCT_US:61582004") AnnotationAssertion( "UMLS:C0847614") AnnotationAssertion( "UMLS:C2607914") @@ -52791,7 +51870,6 @@ AnnotationAssertion( "HP:0003705") AnnotationAssertion( "HP:0003742") AnnotationAssertion( "HP:0003802") -AnnotationAssertion( "MSH:D009135") AnnotationAssertion( "SNOMEDCT_US:129565002") AnnotationAssertion( "UMLS:C0026848") AnnotationAssertion(Annotation( ) Annotation( ) "Muscle tissue disease") @@ -52831,7 +51909,6 @@ SubClassOf( (Rhabdomyolysis) AnnotationAssertion(Annotation( ) "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.") -AnnotationAssertion( "MSH:D012206") AnnotationAssertion( "SNOMEDCT_US:240131006") AnnotationAssertion( "SNOMEDCT_US:89010004") AnnotationAssertion( "UMLS:C0035410") @@ -52854,7 +51931,6 @@ AnnotationAssertion( "HP:0009010") AnnotationAssertion( "HP:0009048") AnnotationAssertion( "HP:0100868") -AnnotationAssertion( "MSH:D009133") AnnotationAssertion( "SNOMEDCT_US:74035001") AnnotationAssertion( "UMLS:C0234958") AnnotationAssertion( "UMLS:C0270948") @@ -53056,7 +52132,6 @@ SubClassOf( ) "A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.") AnnotationAssertion( "HP:0002915") AnnotationAssertion( "HP:0008307") -AnnotationAssertion( "MSH:D019457") AnnotationAssertion( "UMLS:C0376628") AnnotationAssertion( "UMLS:C1859424") AnnotationAssertion( "HP:0003220") @@ -53096,7 +52171,6 @@ SubClassOf( (Reduced coagulation factor V activity) AnnotationAssertion(Annotation( ) "Decreased activity of coagulation factor V.") -AnnotationAssertion( "MSH:D005166") AnnotationAssertion( "SNOMEDCT_US:4320005") AnnotationAssertion( "SNOMEDCT_US:88776002") AnnotationAssertion( "UMLS:C0015499") @@ -53119,7 +52193,6 @@ SubClassOf( (Hypernatremia) AnnotationAssertion(Annotation( ) "An abnormally increased sodium concentration in the blood.") -AnnotationAssertion( "MSH:D006955") AnnotationAssertion( "SNOMEDCT_US:286926003") AnnotationAssertion( "SNOMEDCT_US:39355002") AnnotationAssertion( "UMLS:C0020488") @@ -53153,7 +52226,6 @@ SubClassOf( (Decreased HDL cholesterol concentration) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An decreased concentration of high-density lipoprotein cholesterol in the blood.") -AnnotationAssertion( "MSH:D052456") AnnotationAssertion( "SNOMEDCT_US:190785000") AnnotationAssertion( "UMLS:C0151691") AnnotationAssertion( "UMLS:C0473527") @@ -53185,7 +52257,6 @@ SubClassOf( (Hypermethioninemia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of methionine in the blood.") -AnnotationAssertion( "MSH:C564683") AnnotationAssertion( "SNOMEDCT_US:124283007") AnnotationAssertion( "SNOMEDCT_US:43123004") AnnotationAssertion( "SNOMEDCT_US:57835009") @@ -53252,7 +52323,6 @@ SubClassOf( ) Annotation( "PMID:23093139") "An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine.") AnnotationAssertion( "HP:0410158") -AnnotationAssertion( "MSH:C562646") AnnotationAssertion( "SNOMEDCT_US:55236002") AnnotationAssertion( "UMLS:C0268412") AnnotationAssertion(Annotation( ) Annotation( ) "High urine phosphoethanolamine levels") @@ -53336,7 +52406,6 @@ SubClassOf( ) "Aplasia of the vagina.") AnnotationAssertion( "HP:0008709") -AnnotationAssertion( "MSH:C536523") AnnotationAssertion( "SNOMEDCT_US:248871003") AnnotationAssertion( "SNOMEDCT_US:87380008") AnnotationAssertion( "UMLS:C0220763") @@ -53351,7 +52420,6 @@ SubClassOf( (Male infertility) -AnnotationAssertion( "MSH:D007248") AnnotationAssertion( "SNOMEDCT_US:2904007") AnnotationAssertion( "UMLS:C0021364") AnnotationAssertion(Annotation( ) "Male infertility") @@ -53382,7 +52450,6 @@ SubClassOf( ) "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.") AnnotationAssertion( "HP:0001925") -AnnotationAssertion( "MSH:D001778") AnnotationAssertion( "SNOMEDCT_US:362970003") AnnotationAssertion( "SNOMEDCT_US:64779008") AnnotationAssertion( "UMLS:C0005779") @@ -53419,7 +52486,6 @@ SubClassOf( (Hydroxyprolinemia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of hydroxyproline in the blood.") -AnnotationAssertion( "MSH:C562669") AnnotationAssertion( "SNOMEDCT_US:25739007") AnnotationAssertion( "UMLS:C0268531") AnnotationAssertion(Annotation( ) Annotation( ) "High blood hydroxyproline levels") @@ -53462,7 +52528,6 @@ SubClassOf( (Deficiency of N-acetylglucosamine-1-phosphotransferase) -AnnotationAssertion( "MSH:D009081") AnnotationAssertion( "SNOMEDCT_US:70199000") AnnotationAssertion( "UMLS:C0020725") AnnotationAssertion( "HP:0003264") @@ -53474,7 +52539,6 @@ SubClassOf( ) "A type of hyperbilirubinemia with neonatal onset.") AnnotationAssertion( "HP:0008152") -AnnotationAssertion( "MSH:D051556") AnnotationAssertion( "SNOMEDCT_US:281610001") AnnotationAssertion( "UMLS:C0857007") AnnotationAssertion(Annotation( ) "High blood bilirubin levels in neonate") @@ -53508,7 +52572,6 @@ SubClassOf( (Sudanophilic leukodystrophy) -AnnotationAssertion( "MSH:D020371") AnnotationAssertion( "SNOMEDCT_US:64855000") AnnotationAssertion( "UMLS:C0205711") AnnotationAssertion( "HP:0003269") @@ -53632,7 +52695,6 @@ SubClassOf( (Coxa magna) AnnotationAssertion(Annotation( ) "Widening of the femoral head and neck.") -AnnotationAssertion( "MSH:D000070603") AnnotationAssertion( "SNOMEDCT_US:296041000119103") AnnotationAssertion( "UMLS:C1860826") AnnotationAssertion( "HP:0003279") @@ -53747,7 +52809,6 @@ SubClassOf( (Spina bifida occulta) AnnotationAssertion(Annotation( ) "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.") -AnnotationAssertion( "MSH:D016136") AnnotationAssertion( "SNOMEDCT_US:76916001") AnnotationAssertion( "UMLS:C0080174") AnnotationAssertion( "HP:0003298") @@ -53794,7 +52855,6 @@ SubClassOf( (Spondylolisthesis) AnnotationAssertion(Annotation( ) Annotation( "PMID:20411054") "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.") -AnnotationAssertion( "MSH:D013168") AnnotationAssertion( "SNOMEDCT_US:274152003") AnnotationAssertion( "UMLS:C0038016") AnnotationAssertion(Annotation( ) Annotation( ) "Displacement of one backbone compared to another") @@ -53807,7 +52867,6 @@ SubClassOf( (Spondylolysis) AnnotationAssertion(Annotation( ) Annotation( "PMID:20440613") "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.") -AnnotationAssertion( "MSH:D013169") AnnotationAssertion( "SNOMEDCT_US:240221008") AnnotationAssertion( "UMLS:C0038018") AnnotationAssertion( "HP:0003304") @@ -53839,7 +52898,6 @@ SubClassOf( ) "Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.") AnnotationAssertion( "HP:0002939") -AnnotationAssertion( "MSH:D008141") AnnotationAssertion( "SNOMEDCT_US:249710008") AnnotationAssertion( "SNOMEDCT_US:61960001") AnnotationAssertion( "UMLS:C0024003") @@ -54018,7 +53076,6 @@ SubClassOf( ) "Pain in muscle.") AnnotationAssertion( "HP:0003718") -AnnotationAssertion( "MSH:D063806") AnnotationAssertion( "SNOMEDCT_US:68962001") AnnotationAssertion( "UMLS:C0231528") AnnotationAssertion(Annotation( ) Annotation( ) "Muscle ache") @@ -54155,7 +53212,6 @@ SubClassOf( (Reduced glutathione synthetase level) AnnotationAssertion(Annotation( "PMID:17397529") "Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.") -AnnotationAssertion( "MSH:C536835") AnnotationAssertion( "SNOMEDCT_US:124706000") AnnotationAssertion( "SNOMEDCT_US:234589002") AnnotationAssertion( "SNOMEDCT_US:39112005") @@ -54196,7 +53252,6 @@ SubClassOf( (Hyperalaninemia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") Annotation( "PMID:16902722") Annotation( "PMID:4696900") "An increased concentration of alanine in the blood.") -AnnotationAssertion( "MSH:C562684") AnnotationAssertion( "SNOMEDCT_US:2359002") AnnotationAssertion( "UMLS:C0268630") AnnotationAssertion( "UMLS:C1839424") @@ -54244,7 +53299,6 @@ SubClassOf( (Propionyl-CoA carboxylase deficiency) AnnotationAssertion(Annotation( ) "An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.") -AnnotationAssertion( "MSH:D056693") AnnotationAssertion( "SNOMEDCT_US:124718009") AnnotationAssertion( "SNOMEDCT_US:69080001") AnnotationAssertion( "UMLS:C0268579") @@ -54342,7 +53396,6 @@ SubClassOf( ) "A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen.") AnnotationAssertion( "Fyler:3816") -AnnotationAssertion( "MSH:D012857") AnnotationAssertion( "SNOMEDCT_US:27317008") AnnotationAssertion( "SNOMEDCT_US:43876007") AnnotationAssertion( "UMLS:C0037221") @@ -54450,7 +53503,6 @@ SubClassOf( (Steppage gait) AnnotationAssertion(Annotation( ) Annotation( "PMID:27770207") "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.") -AnnotationAssertion( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:27253007") AnnotationAssertion( "UMLS:C0427149") AnnotationAssertion(Annotation( ) Annotation( ) "High stepping") @@ -54606,7 +53658,6 @@ SubClassOf( ) "Sudden and involuntary contractions of one or more muscles.") AnnotationAssertion( "HP:0009018") AnnotationAssertion( "HP:0031988") -AnnotationAssertion( "MSH:D009120") AnnotationAssertion( "SNOMEDCT_US:55300003") AnnotationAssertion( "UMLS:C0026821") AnnotationAssertion(Annotation( ) "Muscle cramps") @@ -54618,7 +53669,6 @@ SubClassOf( ) "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.") AnnotationAssertion( "HP:0006933") -AnnotationAssertion( "MSH:D013595") AnnotationAssertion( "SNOMEDCT_US:111496009") AnnotationAssertion( "UMLS:C0039144") AnnotationAssertion(Annotation( ) Annotation( ) "Fluid-filled cyst in spinal cord") @@ -54661,7 +53711,6 @@ SubClassOf( ) "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.") AnnotationAssertion( "HP:0002082") -AnnotationAssertion( "MSH:D010292") AnnotationAssertion( "SNOMEDCT_US:91019004") AnnotationAssertion( "UMLS:C0030554") AnnotationAssertion( "Paresthesias") @@ -54787,7 +53836,6 @@ SubClassOf( (Back pain) AnnotationAssertion( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.") -AnnotationAssertion( "MSH:D001416") AnnotationAssertion( "SNOMEDCT_US:161891005") AnnotationAssertion( "UMLS:C0004604") AnnotationAssertion(Annotation( ) "Back pain") @@ -54799,7 +53847,6 @@ SubClassOf( (Low back pain) AnnotationAssertion( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.") -AnnotationAssertion( "MSH:D017116") AnnotationAssertion( "SNOMEDCT_US:279039007") AnnotationAssertion( "UMLS:C0024031") AnnotationAssertion( "Lower back pain") @@ -54916,7 +53963,6 @@ SubClassOf( ) "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.") AnnotationAssertion( "HP:0007032") AnnotationAssertion( "HP:0007241") -AnnotationAssertion( "MSH:D012021") AnnotationAssertion( "SNOMEDCT_US:274818004") AnnotationAssertion( "UMLS:C0558845") AnnotationAssertion(Annotation( ) "Absent ankle reflexes") @@ -55209,7 +54255,6 @@ SubClassOf( (Paralysis) AnnotationAssertion(Annotation( ) "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.") -AnnotationAssertion( "MSH:D010243") AnnotationAssertion( "SNOMEDCT_US:44695005") AnnotationAssertion( "UMLS:C0522224") AnnotationAssertion(Annotation( ) Annotation( ) "Inability to move") @@ -55252,7 +54297,6 @@ SubClassOf( ) "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.") AnnotationAssertion( "HP:0100964") -AnnotationAssertion( "MSH:D006987") AnnotationAssertion( "SNOMEDCT_US:397974008") AnnotationAssertion( "SNOMEDCT_US:398026008") AnnotationAssertion( "SNOMEDCT_US:59073000") @@ -55456,7 +54500,6 @@ AnnotationAssertion( "HP:0008907") AnnotationAssertion( "HP:0008920") AnnotationAssertion( "HP:0008930") -AnnotationAssertion( "MSH:D004392") AnnotationAssertion( "SNOMEDCT_US:237836003") AnnotationAssertion( "SNOMEDCT_US:237837007") AnnotationAssertion( "SNOMEDCT_US:422065006") @@ -55605,7 +54648,6 @@ SubClassOf( (Reduced xanthine dehydrogenase level) AnnotationAssertion(Annotation( ) "An abnormal reduction in xanthine dehydrogenase level.") -AnnotationAssertion( "MSH:C562584") AnnotationAssertion( "SNOMEDCT_US:124147007") AnnotationAssertion( "SNOMEDCT_US:72682008") AnnotationAssertion( "UMLS:C0268118") @@ -55620,7 +54662,6 @@ SubClassOf( (3-Methylglutaconic aciduria) AnnotationAssertion( "An increased amount of 3-methylglutaconic acid in the urine.") -AnnotationAssertion( "MSH:C579867") AnnotationAssertion( "SNOMEDCT_US:237950009") AnnotationAssertion( "UMLS:C3696376") AnnotationAssertion( "3-Methylglutaconicaciduria") @@ -55851,7 +54892,6 @@ AnnotationAssertion( "HP:0003793") AnnotationAssertion( "HP:0003806") AnnotationAssertion( "HP:0007081") -AnnotationAssertion( "MSH:D009136") AnnotationAssertion( "SNOMEDCT_US:193225000") AnnotationAssertion( "SNOMEDCT_US:73297009") AnnotationAssertion( "UMLS:C0026850") @@ -55883,7 +54923,6 @@ SubClassOf( (Decreased LDL cholesterol concentration) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An decreased concentration of low-density lipoprotein cholesterol in the blood.") -AnnotationAssertion( "MSH:D006995") AnnotationAssertion( "SNOMEDCT_US:190786004") AnnotationAssertion( "UMLS:C0020597") AnnotationAssertion( "UMLS:C0853085") @@ -55952,7 +54991,6 @@ SubClassOf( (Molybdenum cofactor deficiency) AnnotationAssertion(Annotation( ) "Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.") -AnnotationAssertion( "MSH:C535811") AnnotationAssertion( "SNOMEDCT_US:29692004") AnnotationAssertion( "UMLS:C0268119") AnnotationAssertion( "HP:0003570") @@ -55963,7 +55001,6 @@ SubClassOf( (Propionic acidemia) AnnotationAssertion(Annotation( "PMID:22593918") "Increased concentration of proprionic acid in the blood circulation.") -AnnotationAssertion( "MSH:D056693") AnnotationAssertion( "SNOMEDCT_US:124718009") AnnotationAssertion( "SNOMEDCT_US:69080001") AnnotationAssertion( "UMLS:C0268579") @@ -56114,7 +55151,6 @@ SubClassOf( ) "Increased concentration of 4-hydroxyphenylacetic acid in the urine.") AnnotationAssertion( "HP:0033304") -AnnotationAssertion( "MSH:C535315") AnnotationAssertion( "UMLS:C1848680") AnnotationAssertion( "Elevated urine 4-hydroxyphenylacetic acid level") AnnotationAssertion( "HP:0003607") @@ -56166,7 +55202,6 @@ SubClassOf( (Trimethylaminuria) AnnotationAssertion(Annotation( ) "Increased concentration of trimethylamine in the urine.") -AnnotationAssertion( "MSH:C536561") AnnotationAssertion( "SNOMEDCT_US:237959005") AnnotationAssertion( "UMLS:C0342739") AnnotationAssertion(Annotation( ) Annotation( ) "High urine trimethylamine levels") @@ -56277,7 +55312,6 @@ SubClassOf( (Hemoglobinuria) AnnotationAssertion(Annotation( ) "The presence of free hemoglobin in the urine.") -AnnotationAssertion( "MSH:D006456") AnnotationAssertion( "SNOMEDCT_US:68600005") AnnotationAssertion( "UMLS:C0019048") AnnotationAssertion(Annotation( ) "Haemoglobin in urine") @@ -56303,7 +55337,6 @@ SubClassOf( (Sulfite oxidase deficiency) AnnotationAssertion(Annotation( ) "Abnormally reduced sulfite oxidase level.") -AnnotationAssertion( "MSH:C538141") AnnotationAssertion( "SNOMEDCT_US:367368009") AnnotationAssertion( "UMLS:C0268624") AnnotationAssertion( "HP:0003643") @@ -56373,7 +55406,6 @@ SubClassOf( ) "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.") AnnotationAssertion( "HP:0003650") -AnnotationAssertion( "MSH:D005487") AnnotationAssertion( "SNOMEDCT_US:16980002") AnnotationAssertion( "UMLS:C0016390") AnnotationAssertion( "Foamy histiocytes") @@ -56390,7 +55422,6 @@ SubClassOf( ) "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.") AnnotationAssertion( "HP:0008313") -AnnotationAssertion( "MSH:C564018") AnnotationAssertion( "UMLS:C1838877") AnnotationAssertion( "Myoglobinuria, episodic") AnnotationAssertion(Annotation( ) "Myoglobinuria, recurrent") @@ -56410,7 +55441,6 @@ SubClassOf( (Reduced dihydropyrimidine dehydrogenase level) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.") -AnnotationAssertion( "MSH:D054067") AnnotationAssertion( "SNOMEDCT_US:77365006") AnnotationAssertion( "UMLS:C1959620") AnnotationAssertion( "UMLS:C4025582") @@ -56491,7 +55521,6 @@ AnnotationAssertion( "HP:0003664") AnnotationAssertion( "HP:0003668") AnnotationAssertion( "HP:0011007") -AnnotationAssertion( "MSH:D017668") AnnotationAssertion( "UMLS:C0206132") AnnotationAssertion( "Age of onset") AnnotationAssertion(Annotation( ) Annotation( ) "Age symptoms begin") @@ -56843,7 +55872,6 @@ SubClassOf( (Myofibrillar myopathy) AnnotationAssertion(Annotation( ) "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.") -AnnotationAssertion( "MSH:C580316") AnnotationAssertion( "SNOMEDCT_US:699269005") AnnotationAssertion( "UMLS:C2678065") AnnotationAssertion( "Myofibrillar changes") @@ -56973,7 +56001,6 @@ SubClassOf( ) "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.") AnnotationAssertion( "HP:0008960") -AnnotationAssertion( "MSH:D017240") AnnotationAssertion( "SNOMEDCT_US:16851005") AnnotationAssertion( "UMLS:C0162670") AnnotationAssertion( "HP:0003737") @@ -57020,7 +56047,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Genetic anticipation) AnnotationAssertion(Annotation( ) "A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations.") -AnnotationAssertion( "MSH:D020132") AnnotationAssertion( "UMLS:C0600498") AnnotationAssertion( "Autosomal dominant with genetic anticipation") AnnotationAssertion( "HP:0003743") @@ -57071,7 +56097,6 @@ SubClassOf( (Increased muscle fatiguability) AnnotationAssertion(Annotation( ) "An abnormal, increased fatiguability of the musculature.") -AnnotationAssertion( "MSH:D018763") AnnotationAssertion( "SNOMEDCT_US:80449002") AnnotationAssertion( "UMLS:C0242979") AnnotationAssertion( "UMLS:C4025573") @@ -57149,7 +56174,6 @@ SubClassOf( (Calcinosis) AnnotationAssertion(Annotation( ) "Formation of calcium deposits in any soft tissue.") -AnnotationAssertion( "MSH:D002114") AnnotationAssertion( "SNOMEDCT_US:6595006") AnnotationAssertion( "UMLS:C0006663") AnnotationAssertion(Annotation( ) Annotation( ) "Calcium buildup in soft tissues of body") @@ -57189,7 +56213,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D002012") AnnotationAssertion( "SNOMEDCT_US:191983006") AnnotationAssertion( "SNOMEDCT_US:90207007") AnnotationAssertion( "UMLS:C0006325") @@ -57202,8 +56225,6 @@ SubClassOf( (Nevus) AnnotationAssertion(Annotation( ) "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.") -AnnotationAssertion( "MSH:D009506") -AnnotationAssertion( "MSH:D009508") AnnotationAssertion( "SNOMEDCT_US:21119008") AnnotationAssertion( "SNOMEDCT_US:400096001") AnnotationAssertion( "SNOMEDCT_US:51697005") @@ -57221,7 +56242,6 @@ SubClassOf( (Psoriasiform dermatitis) AnnotationAssertion(Annotation( ) "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).") -AnnotationAssertion( "MSH:D011565") AnnotationAssertion( "SNOMEDCT_US:9014002") AnnotationAssertion( "UMLS:C0033860") AnnotationAssertion( "Psoriasis") @@ -57244,7 +56264,6 @@ SubClassOf( (Pulp calcification) AnnotationAssertion(Annotation( ) Annotation( "PMID:31468724") "Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.") -AnnotationAssertion( "MSH:D003784") AnnotationAssertion( "SNOMEDCT_US:57602001") AnnotationAssertion( "UMLS:C1527284") AnnotationAssertion( "UMLS:C4280259") @@ -57287,7 +56306,6 @@ SubClassOf( (Pili torti) AnnotationAssertion(Annotation( ) "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.") -AnnotationAssertion( "MSH:C562485") AnnotationAssertion( "SNOMEDCT_US:17170005") AnnotationAssertion( "UMLS:C0263491") AnnotationAssertion(Annotation( ) Annotation( ) "Flattened and twisted hair") @@ -57324,7 +56342,6 @@ SubClassOf( (Excessive salivation) AnnotationAssertion(Annotation( ) "Excessive production of saliva.") -AnnotationAssertion( "MSH:D012798") AnnotationAssertion( "SNOMEDCT_US:275295002") AnnotationAssertion( "SNOMEDCT_US:53827007") AnnotationAssertion( "SNOMEDCT_US:62718007") @@ -57384,7 +56401,6 @@ SubClassOf( ) "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.") AnnotationAssertion( "HP:0003804") -AnnotationAssertion( "MSH:C564969") AnnotationAssertion( "UMLS:C1850674") AnnotationAssertion( "HP:0003789") AnnotationAssertion(rdfs:label "Minicore myopathy") @@ -57515,7 +56531,6 @@ SubClassOf( ) "Death within the first 28 days of life.") AnnotationAssertion( "HP:0003820") AnnotationAssertion( "HP:0003824") -AnnotationAssertion( "MSH:D066087") AnnotationAssertion( "SNOMEDCT_US:276506001") AnnotationAssertion( "UMLS:C0410916") AnnotationAssertion(Annotation( ) "Neonatal lethal") @@ -57563,8 +56578,6 @@ SubClassOf( ) "Death of the fetus in utero after at least 22 weeks of gestation.") AnnotationAssertion( "HP:0001624") AnnotationAssertion( "HP:0001625") -AnnotationAssertion( "MSH:D005313") -AnnotationAssertion( "MSH:D050497") AnnotationAssertion( "SNOMEDCT_US:237364002") AnnotationAssertion( "SNOMEDCT_US:276507005") AnnotationAssertion( "UMLS:C0015927") @@ -57637,7 +56650,6 @@ SubClassOf( (Shoulder dislocation) AnnotationAssertion(Annotation( ) "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.") -AnnotationAssertion( "MSH:D012783") AnnotationAssertion( "SNOMEDCT_US:125615005") AnnotationAssertion( "SNOMEDCT_US:417076003") AnnotationAssertion( "UMLS:C0037005") @@ -58910,7 +57922,6 @@ SubClassOf( (Fractured radius) -AnnotationAssertion( "MSH:D011885") AnnotationAssertion( "SNOMEDCT_US:12676007") AnnotationAssertion( "UMLS:C0034628") AnnotationAssertion( "HP:0003978") @@ -58990,7 +58001,6 @@ SubClassOf( (Fractured ulna) -AnnotationAssertion( "MSH:D014458") AnnotationAssertion( "SNOMEDCT_US:54556006") AnnotationAssertion( "UMLS:C0041601") AnnotationAssertion( "HP:0003987") @@ -59706,7 +58716,6 @@ SubClassOf( "PMID:19125433") "Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.") AnnotationAssertion(Annotation(rdfs:label "Macrodactyly") "MEDDRA:10025386") -AnnotationAssertion( "MSH:C562546") AnnotationAssertion( "SNOMEDCT_US:48449000") AnnotationAssertion( "UMLS:C0265552") AnnotationAssertion(Annotation( ) Annotation( ) "Finger overgrowth") @@ -61057,7 +60066,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-02-20T03:34:00Z") AnnotationAssertion( "HP:0010703") -AnnotationAssertion( "MSH:D000361") AnnotationAssertion( "SNOMEDCT_US:119250001") AnnotationAssertion( "UMLS:C0086438") AnnotationAssertion( "UMLS:C4048270") @@ -61083,7 +60091,6 @@ AnnotationAssertion( "HP:0005394") AnnotationAssertion( "HP:0008325") AnnotationAssertion( "HP:0008340") -AnnotationAssertion( "MSH:D017099") AnnotationAssertion( "SNOMEDCT_US:123785006") AnnotationAssertion( "SNOMEDCT_US:190981001") AnnotationAssertion( "UMLS:C0162539") @@ -61109,7 +60116,6 @@ AnnotationAssertion( "HP:0002924") AnnotationAssertion( "HP:0008184") AnnotationAssertion( "HP:0008190") -AnnotationAssertion( "MSH:D006994") AnnotationAssertion( "SNOMEDCT_US:60086000") AnnotationAssertion( "UMLS:C0020595") AnnotationAssertion( "UMLS:C0857899") @@ -61131,7 +60137,6 @@ SubClassOf( ) "The presence of a fistula of the vagina.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-02-25T12:17:00Z") -AnnotationAssertion( "MSH:D014624") AnnotationAssertion( "SNOMEDCT_US:45135002") AnnotationAssertion( "UMLS:C0042253") AnnotationAssertion( "HP:0004320") @@ -61145,7 +60150,6 @@ SubClassOf( ) "The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-02-25T12:32:00Z") -AnnotationAssertion( "MSH:D001747") AnnotationAssertion( "SNOMEDCT_US:68666001") AnnotationAssertion( "UMLS:C0005690") AnnotationAssertion( "HP:0004321") @@ -61203,7 +60207,6 @@ AnnotationAssertion( ) AnnotationAssertion( "2008-02-27T03:21:00Z") AnnotationAssertion( "HP:0045083") -AnnotationAssertion( "MSH:D015430") AnnotationAssertion( "SNOMEDCT_US:161831008") AnnotationAssertion( "SNOMEDCT_US:262286000") AnnotationAssertion( "SNOMEDCT_US:8943002") @@ -61222,8 +60225,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-02-27T03:22:00Z") AnnotationAssertion( "HP:0001823") AnnotationAssertion( "HP:0001826") -AnnotationAssertion( "MSH:D013851") -AnnotationAssertion( "MSH:D015431") AnnotationAssertion( "SNOMEDCT_US:161832001") AnnotationAssertion( "SNOMEDCT_US:248342006") AnnotationAssertion( "SNOMEDCT_US:262285001") @@ -61246,7 +60247,6 @@ SubClassOf( ) "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-02-27T03:23:00Z") -AnnotationAssertion( "MSH:D002100") AnnotationAssertion( "SNOMEDCT_US:238108007") AnnotationAssertion( "SNOMEDCT_US:285384003") AnnotationAssertion( "UMLS:C0006625") @@ -61656,7 +60656,6 @@ SubClassOf( ) "An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-17T03:35:00Z") -AnnotationAssertion( "MSH:D000137") AnnotationAssertion( "UMLS:C0001118") AnnotationAssertion( "Acid base imbalance") AnnotationAssertion( "HP:0004360") @@ -61779,7 +60778,6 @@ SubClassOf( ) "An abnormality of temperature homeostasis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T06:34:00Z") -AnnotationAssertion( "MSH:D001832") AnnotationAssertion( "UMLS:C0005904") AnnotationAssertion( "UMLS:C1832160") AnnotationAssertion(Annotation( ) "Abnormality of temperature regulation") @@ -61828,7 +60826,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T07:33:00Z") AnnotationAssertion( "HP:0007140") -AnnotationAssertion( "MSH:D020821") AnnotationAssertion( "SNOMEDCT_US:445006008") AnnotationAssertion( "UMLS:C0743332") AnnotationAssertion( "HP:0004373") @@ -61851,7 +60848,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the nervous system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T07:38:00Z") -AnnotationAssertion( "MSH:D009423") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126950007") AnnotationAssertion( "UMLS:C0027766") @@ -61883,7 +60879,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T07:44:00Z") AnnotationAssertion(Annotation( ) Annotation( ) "Blood tumor") AnnotationAssertion(Annotation( ) "Blood tumour") -AnnotationAssertion( "MSH:D019337") AnnotationAssertion( "SNOMEDCT_US:129154003") AnnotationAssertion( "SNOMEDCT_US:269475001") AnnotationAssertion( "UMLS:C0376545") @@ -61929,7 +60924,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-18T08:52:00Z") AnnotationAssertion( "HP:0004759") AnnotationAssertion( "HP:0005173") -AnnotationAssertion( "MSH:C562942") AnnotationAssertion( "SNOMEDCT_US:250978003") AnnotationAssertion( "UMLS:C0428791") AnnotationAssertion( "HP:0004380") @@ -61944,7 +60938,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T08:54:00Z") AnnotationAssertion( "Fyler:1430") -AnnotationAssertion( "MSH:D021921") AnnotationAssertion( "SNOMEDCT_US:268185002") AnnotationAssertion( "UMLS:C0003499") AnnotationAssertion( "HP:0004381") @@ -61971,7 +60964,6 @@ SubClassOf( ) Annotation( "PMID:22192721") "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T08:56:00Z") -AnnotationAssertion( "MSH:D018636") AnnotationAssertion( "SNOMEDCT_US:62067003") AnnotationAssertion( "UMLS:C0152101") AnnotationAssertion( "Heart left ventricle hypoplasia") @@ -62029,7 +61021,6 @@ SubClassOf( ) "An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:02:00Z") -AnnotationAssertion( "MSH:D004760") AnnotationAssertion( "SNOMEDCT_US:43752006") AnnotationAssertion( "UMLS:C0014356") AnnotationAssertion( "HP:0004387") @@ -62041,7 +61032,6 @@ SubClassOf( "PMID:3484569") "A colon of abnormally small caliber.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:02:00Z") -AnnotationAssertion( "MSH:C562563") AnnotationAssertion( "SNOMEDCT_US:18389004") AnnotationAssertion( "UMLS:C0266200") AnnotationAssertion( "UMLS:C3553395") @@ -62056,7 +61046,6 @@ SubClassOf( ) "A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:03:00Z") -AnnotationAssertion( "MSH:D007418") AnnotationAssertion( "SNOMEDCT_US:235825006") AnnotationAssertion( "SNOMEDCT_US:715201005") AnnotationAssertion( "UMLS:C0021847") @@ -62088,7 +61077,6 @@ SubClassOf( ) "A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:08:00Z") -AnnotationAssertion( "MSH:D011535") AnnotationAssertion( "SNOMEDCT_US:5187006") AnnotationAssertion( "UMLS:C0033770") AnnotationAssertion(Annotation( ) "Prune belly") @@ -62101,7 +61089,6 @@ SubClassOf( ) AnnotationAssertion( "2008-03-18T09:11:00Z") -AnnotationAssertion( "MSH:C562464") AnnotationAssertion( "SNOMEDCT_US:78809005") AnnotationAssertion( "SNOMEDCT_US:87252009") AnnotationAssertion( "UMLS:C0236048") @@ -62114,7 +61101,6 @@ SubClassOf( "A deficiency in the intake of energy and nutrients.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:12:00Z") -AnnotationAssertion( "MSH:D044342") AnnotationAssertion( "SNOMEDCT_US:248325000") AnnotationAssertion( "SNOMEDCT_US:2492009") AnnotationAssertion( "SNOMEDCT_US:47563007") @@ -62161,7 +61147,6 @@ SubClassOf( ) Annotation( "PMID:28242110") "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:14:00Z") -AnnotationAssertion( "MSH:D010437") AnnotationAssertion( "SNOMEDCT_US:13200003") AnnotationAssertion( "UMLS:C0030920") AnnotationAssertion(Annotation( ) Annotation( ) "Sore in the lining of gastrointestinal tract") @@ -62343,7 +61328,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T09:28:00Z") AnnotationAssertion( "Fyler:1622") -AnnotationAssertion( "MSH:D000071079") AnnotationAssertion( "SNOMEDCT_US:95441000") AnnotationAssertion( "UMLS:C0238397") AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of lung artery") @@ -62370,7 +61354,6 @@ SubClassOf( "PMID:27770207") "Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:29:00Z") -AnnotationAssertion( "MSH:D007383") AnnotationAssertion( "SNOMEDCT_US:63491006") AnnotationAssertion( "UMLS:C0021775") AnnotationAssertion( "HP:0004417") @@ -62383,7 +61366,6 @@ SubClassOf( ) "Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:30:00Z") -AnnotationAssertion( "MSH:D013924") AnnotationAssertion( "SNOMEDCT_US:64156001") AnnotationAssertion( "UMLS:C0040046") AnnotationAssertion( "HP:0004418") @@ -62445,7 +61427,6 @@ SubClassOf( "PMID:28522383") "Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:37:00Z") -AnnotationAssertion( "MSH:C566826") AnnotationAssertion( "SNOMEDCT_US:718099006") AnnotationAssertion( "UMLS:C1868598") AnnotationAssertion( "HP:0004423") @@ -62516,7 +61497,6 @@ SubClassOf( ) "A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:46:00Z") -AnnotationAssertion( "MSH:D016511") AnnotationAssertion( "SNOMEDCT_US:31323000") AnnotationAssertion( "UMLS:C0085110") AnnotationAssertion( "Immunodeficiency, severe combined") @@ -62542,7 +61522,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T09:47:00Z") AnnotationAssertion( "HP:0008328") -AnnotationAssertion( "MSH:D000361") AnnotationAssertion( "SNOMEDCT_US:119249001") AnnotationAssertion( "UMLS:C0001768") AnnotationAssertion( "Agammaglobulinaemia") @@ -62555,7 +61534,6 @@ SubClassOf( ) Annotation( "PMID:2251975") "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:48:00Z") -AnnotationAssertion( "MSH:C562869") AnnotationAssertion( "SNOMEDCT_US:234554004") AnnotationAssertion( "UMLS:C0398709") AnnotationAssertion( "HP:0004433") @@ -62611,7 +61589,6 @@ AnnotationAssertion(Annotation( ) "Overgrowth of the inside of the frontal bone") AnnotationAssertion(Annotation( ) Annotation( ) "Thick inner surface of the frontal bone") AnnotationAssertion(Annotation( ) "Thick internal surface of the frontal bone") -AnnotationAssertion( "MSH:D006957") AnnotationAssertion( "SNOMEDCT_US:82054006") AnnotationAssertion( "UMLS:C0020494") AnnotationAssertion( "UMLS:C4280524") @@ -62631,7 +61608,6 @@ SubClassOf( ) "A characteristic appearance resulting from defective ossification of craniofacial bones.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T09:58:00Z") -AnnotationAssertion( "MSH:D003394") AnnotationAssertion( "SNOMEDCT_US:28861008") AnnotationAssertion( "UMLS:C0010273") AnnotationAssertion(Annotation( ) "Crouzon syndrome") @@ -62684,7 +61660,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T10:01:00Z") AnnotationAssertion( "HP:0004486") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:109417006") AnnotationAssertion( "UMLS:C1833340") AnnotationAssertion( "Lambdoid suture craniosynostosis") @@ -62715,7 +61690,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-18T10:05:00Z") AnnotationAssertion( "HP:0004837") -AnnotationAssertion( "MSH:D004612") AnnotationAssertion( "SNOMEDCT_US:178935009") AnnotationAssertion( "SNOMEDCT_US:191169008") AnnotationAssertion( "SNOMEDCT_US:250242004") @@ -62761,7 +61735,6 @@ SubClassOf( ) "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-18T10:09:00Z") -AnnotationAssertion( "MSH:D017114") AnnotationAssertion( "SNOMEDCT_US:197270009") AnnotationAssertion( "SNOMEDCT_US:235884008") AnnotationAssertion( "UMLS:C0162557") @@ -62893,7 +61866,6 @@ AnnotationAssertion( "HP:0005118") AnnotationAssertion( "HP:0008552") AnnotationAssertion( "HP:0008578") -AnnotationAssertion( "MSH:C563015") AnnotationAssertion( "SNOMEDCT_US:1955003") AnnotationAssertion( "SNOMEDCT_US:204271000") AnnotationAssertion( "SNOMEDCT_US:204272007") @@ -62924,7 +61896,6 @@ SubClassOf( (Chronic bronchitis) AnnotationAssertion(Annotation( ) "Chronic inflammation of the bronchi.") -AnnotationAssertion( "MSH:D029481") AnnotationAssertion( "SNOMEDCT_US:63480004") AnnotationAssertion( "UMLS:C0008677") AnnotationAssertion( "HP:0004469") @@ -63096,7 +62067,6 @@ AnnotationAssertion(Annotation( ) "Hypertrophy of calvarial bones") AnnotationAssertion(Annotation( ) "Overgrowth of calvarial bones") AnnotationAssertion(Annotation( ) "Thick calvarial bones") -AnnotationAssertion( "MSH:C537963") AnnotationAssertion( "UMLS:C1863351") AnnotationAssertion( "UMLS:C4280519") AnnotationAssertion( "UMLS:C4280520") @@ -63267,7 +62237,6 @@ SubClassOf( ) Annotation( "PMID:20400390") "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.") AnnotationAssertion( "HP:0004517") AnnotationAssertion( "HP:0004773") -AnnotationAssertion( "MSH:C538390") AnnotationAssertion( "UMLS:C1838123") AnnotationAssertion( "Congenital cervical hypertrichosis") AnnotationAssertion( "Hypertrichosis, congenital anterior cervical") @@ -63280,7 +62249,6 @@ SubClassOf( ) "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.") AnnotationAssertion( "HP:0004547") AnnotationAssertion( "HP:0004769") -AnnotationAssertion( "MSH:C538388") AnnotationAssertion( "UMLS:C1855900") AnnotationAssertion(Annotation( ) "Congenital generalised hypertrichosis") AnnotationAssertion( "Congenital generalized hypertrichosis") @@ -63570,7 +62538,6 @@ SubClassOf( ) "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.") AnnotationAssertion( "HP:0004636") -AnnotationAssertion( "MSH:D007714") AnnotationAssertion( "SNOMEDCT_US:388981000") AnnotationAssertion( "SNOMEDCT_US:5601008") AnnotationAssertion( "UMLS:C0022738") @@ -64131,7 +63098,6 @@ SubClassOf( (Acute tubulointerstitial nephritis) AnnotationAssertion(Annotation( ) "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.") -AnnotationAssertion( "MSH:C564356") AnnotationAssertion( "UMLS:C1843274") AnnotationAssertion( "HP:0004729") AnnotationAssertion(rdfs:label "Acute tubulointerstitial nephritis") @@ -64202,7 +63168,6 @@ SubClassOf( (Glomerular subendothelial electron-dense deposits) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:Eurenomics_ewuehl") Annotation( "PMID:20301598") Annotation( "PMID:30085237") "Electron dense deposits at the glomerular basement membrane,") -AnnotationAssertion( "MSH:D015432") AnnotationAssertion( "SNOMEDCT_US:59479006") AnnotationAssertion( "UMLS:C0268743") AnnotationAssertion( "Dense deposit disease") @@ -64215,7 +63180,6 @@ SubClassOf( (Atrial flutter) AnnotationAssertion(Annotation( ) "A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.") -AnnotationAssertion( "MSH:D001282") AnnotationAssertion( "SNOMEDCT_US:5370000") AnnotationAssertion( "UMLS:C0004239") AnnotationAssertion( "HP:0004749") @@ -64258,7 +63222,6 @@ SubClassOf( (Supraventricular tachycardia) AnnotationAssertion(Annotation( ) Annotation( "HPO_CONTRIBUTOR:DDD_dbrown") "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.") -AnnotationAssertion( "MSH:D013617") AnnotationAssertion( "SNOMEDCT_US:6456007") AnnotationAssertion( "UMLS:C0039240") AnnotationAssertion( "UMLS:C1698480") @@ -64274,7 +63237,6 @@ SubClassOf( "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).") AnnotationAssertion( "Fyler:7160") -AnnotationAssertion( "MSH:D017180") AnnotationAssertion( "SNOMEDCT_US:25569003") AnnotationAssertion( "UMLS:C0042514") AnnotationAssertion( "HP:0004756") @@ -64286,7 +63248,6 @@ SubClassOf( (Paroxysmal atrial fibrillation) AnnotationAssertion(Annotation( ) Annotation( "PMID:30571060") "Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.") -AnnotationAssertion( "MSH:D001281") AnnotationAssertion( "SNOMEDCT_US:282825002") AnnotationAssertion( "UMLS:C0235480") AnnotationAssertion(Annotation( ) "Atrial fibrillation, paroxysmal") @@ -64475,7 +63436,6 @@ SubClassOf( (Lactose intolerance) AnnotationAssertion(Annotation( ) "An inability to digest lactose.") -AnnotationAssertion( "MSH:D007787") AnnotationAssertion( "SNOMEDCT_US:267425008") AnnotationAssertion( "SNOMEDCT_US:700094005") AnnotationAssertion( "UMLS:C0022951") @@ -64606,7 +63566,6 @@ SubClassOf( ) "A form of hemolytic anemia with congenital onset.") AnnotationAssertion( "HP:0004811") AnnotationAssertion( "HP:0004824") -AnnotationAssertion( "MSH:D000745") AnnotationAssertion( "SNOMEDCT_US:38911009") AnnotationAssertion( "SNOMEDCT_US:42601008") AnnotationAssertion( "UMLS:C0002881") @@ -64628,7 +63587,6 @@ AnnotationAssertion( "HP:0005516") AnnotationAssertion( "HP:0006724") AnnotationAssertion( "HP:0006728") -AnnotationAssertion( "MSH:D015470") AnnotationAssertion( "SNOMEDCT_US:17788007") AnnotationAssertion( "SNOMEDCT_US:413443009") AnnotationAssertion( "SNOMEDCT_US:91861009") @@ -64649,7 +63607,6 @@ SubClassOf( (Neonatal alloimmune thrombocytopenia) AnnotationAssertion(Annotation( ) "Low platelet count associated with maternal platelet-specific alloantibodies.") -AnnotationAssertion( "MSH:D054098") AnnotationAssertion( "SNOMEDCT_US:240305000") AnnotationAssertion( "UMLS:C3853779") AnnotationAssertion( "HP:0004809") @@ -64661,8 +63618,6 @@ SubClassOf( ) "A type of hypoplastic anemia with congenital onset.") AnnotationAssertion( "HP:0005545") -AnnotationAssertion( "MSH:D000742") -AnnotationAssertion( "MSH:D029503") AnnotationAssertion( "SNOMEDCT_US:234371002") AnnotationAssertion( "SNOMEDCT_US:52951008") AnnotationAssertion( "SNOMEDCT_US:88854002") @@ -64689,7 +63644,6 @@ SubClassOf( (Post-transfusion thrombocytopenia) AnnotationAssertion(Annotation( ) "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.") -AnnotationAssertion( "MSH:C562868") AnnotationAssertion( "SNOMEDCT_US:73162004") AnnotationAssertion( "UMLS:C0398648") AnnotationAssertion( "UMLS:C1868252") @@ -64722,7 +63676,6 @@ SubClassOf( (Paroxysmal nocturnal hemoglobinuria) -AnnotationAssertion( "MSH:D006457") AnnotationAssertion( "SNOMEDCT_US:1963002") AnnotationAssertion( "UMLS:C0024790") AnnotationAssertion(Annotation( ) "Paroxysmal nocturnal haemoglobinuria") @@ -64742,7 +63695,6 @@ SubClassOf( (Acute myelomonocytic leukemia) AnnotationAssertion(Annotation( "NCIT:C7463") "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.") -AnnotationAssertion( "MSH:D015479") AnnotationAssertion( "SNOMEDCT_US:110005000") AnnotationAssertion( "SNOMEDCT_US:277601005") AnnotationAssertion( "SNOMEDCT_US:30962008") @@ -64766,7 +63718,6 @@ SubClassOf( (Atypical elliptocytosis) -AnnotationAssertion( "MSH:C565598") AnnotationAssertion( "UMLS:C1857010") AnnotationAssertion( "HP:0004822") AnnotationAssertion(rdfs:label "Atypical elliptocytosis") @@ -64837,7 +63788,6 @@ SubClassOf( (Acute promyelocytic leukemia) AnnotationAssertion(Annotation( ) "A type of acute myeloid leukemia in which abnormal promyelocytes predominate.") -AnnotationAssertion( "MSH:D015473") AnnotationAssertion( "SNOMEDCT_US:110004001") AnnotationAssertion( "SNOMEDCT_US:28950004") AnnotationAssertion( "UMLS:C0023487") @@ -64850,7 +63800,6 @@ SubClassOf( ) Annotation( "PMID:16304353") "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.") AnnotationAssertion( "HP:0004805") -AnnotationAssertion( "MSH:C563004") AnnotationAssertion( "SNOMEDCT_US:9434008") AnnotationAssertion( "UMLS:C0520739") AnnotationAssertion( "hereditary pyropoikilocytosis") @@ -64862,7 +63811,6 @@ SubClassOf( ) "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.") AnnotationAssertion( "HP:0004842") -AnnotationAssertion( "MSH:C536357") AnnotationAssertion( "SNOMEDCT_US:44666001") AnnotationAssertion( "UMLS:C0271901") AnnotationAssertion(Annotation( ) "Hypochromic microcytic anaemia") @@ -64879,7 +63827,6 @@ AnnotationAssertion(Annotation( "HP:0005514") AnnotationAssertion( "HP:0005551") AnnotationAssertion( "HP:0008286") -AnnotationAssertion( "MSH:D005175") AnnotationAssertion( "SNOMEDCT_US:46981006") AnnotationAssertion( "UMLS:C0015526") AnnotationAssertion( "Factor XII deficiency") @@ -64905,7 +63852,6 @@ SubClassOf( "PMID:24904835") "The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.") AnnotationAssertion( "HP:0004833") -AnnotationAssertion( "MSH:D007948") AnnotationAssertion( "SNOMEDCT_US:22331004") AnnotationAssertion( "SNOMEDCT_US:413441006") AnnotationAssertion( "UMLS:C0023465") @@ -64985,7 +63931,6 @@ SubClassOf( (Reduced protein S activity) AnnotationAssertion(Annotation( ) "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.") -AnnotationAssertion( "MSH:D018455") AnnotationAssertion( "SNOMEDCT_US:1563006") AnnotationAssertion( "UMLS:C0242666") AnnotationAssertion( "UMLS:C4025284") @@ -65052,7 +63997,6 @@ SubClassOf( (Refractory sideroblastic anemia) AnnotationAssertion(Annotation( ) "A type of sideroblastic anemia that is not responsive to treatment.") -AnnotationAssertion( "MSH:D000756") AnnotationAssertion( "SNOMEDCT_US:41841004") AnnotationAssertion( "UMLS:C0002896") AnnotationAssertion(Annotation( ) "Refractory sideroblastic anaemia") @@ -65095,7 +64039,6 @@ SubClassOf( (Incisional hernia) AnnotationAssertion(Annotation( ) "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.") -AnnotationAssertion( "MSH:D000069290") AnnotationAssertion( "SNOMEDCT_US:236037000") AnnotationAssertion( "SNOMEDCT_US:241556001") AnnotationAssertion( "UMLS:C0267716") @@ -65273,7 +64216,6 @@ SubClassOf( (Maturity-onset diabetes of the young) AnnotationAssertion(Annotation( ) "The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells.") -AnnotationAssertion( "MSH:C562772") AnnotationAssertion( "SNOMEDCT_US:609561005") AnnotationAssertion( "UMLS:C0342276") AnnotationAssertion( "Maturity onset diabetes of the young") @@ -65285,7 +64227,6 @@ SubClassOf( (Reduced circulating vitamin A concentration) AnnotationAssertion( "Concentration of vitamin A below the lower limit of normal in the blood circulation.") -AnnotationAssertion( "MSH:D014802") AnnotationAssertion( "SNOMEDCT_US:72000004") AnnotationAssertion( "UMLS:C0042842") AnnotationAssertion( "Low levels of vitamin A") @@ -65332,7 +64273,6 @@ SubClassOf( (Hypophosphatemic rickets) -AnnotationAssertion( "MSH:D063730") AnnotationAssertion( "SNOMEDCT_US:66266003") AnnotationAssertion( "UMLS:C1704375") AnnotationAssertion( "HP:0004912") @@ -65389,7 +64329,6 @@ SubClassOf( (Galactose intolerance) -AnnotationAssertion( "MSH:D005693") AnnotationAssertion( "SNOMEDCT_US:190745006") AnnotationAssertion( "SNOMEDCT_US:190749000") AnnotationAssertion( "UMLS:C0016952") @@ -65428,7 +64367,6 @@ SubClassOf( (Hyperphenylalaninemia) AnnotationAssertion(Annotation( ) "An increased concentration of L-phenylalanine in the blood.") -AnnotationAssertion( "MSH:D010661") AnnotationAssertion( "SNOMEDCT_US:68528007") AnnotationAssertion( "UMLS:C0751435") AnnotationAssertion( "HP:0004923") @@ -65523,7 +64461,6 @@ SubClassOf( (Vascular calcification) AnnotationAssertion(Annotation( ) "Abnormal calcification of the vasculature.") -AnnotationAssertion( "MSH:D061205") AnnotationAssertion( "SNOMEDCT_US:237897009") AnnotationAssertion( "UMLS:C0342649") AnnotationAssertion( "HP:0004934") @@ -65548,7 +64485,6 @@ SubClassOf( (Venous thrombosis) AnnotationAssertion(Annotation( ) "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.") -AnnotationAssertion( "MSH:D020246") AnnotationAssertion( "SNOMEDCT_US:111293003") AnnotationAssertion( "UMLS:C0042487") AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in vein") @@ -65602,7 +64538,6 @@ AnnotationAssertion( "HP:0001724") AnnotationAssertion( "Fyler:2301") AnnotationAssertion( "Fyler:2708") -AnnotationAssertion( "MSH:D001014") AnnotationAssertion( "SNOMEDCT_US:67362008") AnnotationAssertion( "UMLS:C0003486") AnnotationAssertion( "Aortic dilatation") @@ -65632,7 +64567,6 @@ AnnotationAssertion( "HP:0006816") AnnotationAssertion(Annotation( ) Annotation( ) "Brain aneurysm") AnnotationAssertion( "Intracranial aneurysm") -AnnotationAssertion( "MSH:D002532") AnnotationAssertion( "SNOMEDCT_US:128608001") AnnotationAssertion( "UMLS:C0751003") AnnotationAssertion( "UMLS:C1290398") @@ -65658,7 +64592,6 @@ SubClassOf( "https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567") "An abnormal connection between an artery and vein.") AnnotationAssertion( "HP:0004946") -AnnotationAssertion( "MSH:D001164") AnnotationAssertion( "SNOMEDCT_US:128617001") AnnotationAssertion( "SNOMEDCT_US:439470001") AnnotationAssertion( "UMLS:C0003855") @@ -65686,8 +64619,6 @@ AnnotationAssertion( "HP:0005309") AnnotationAssertion( "HP:0005315") AnnotationAssertion( "HP:0005794") -AnnotationAssertion( "MSH:D016491") -AnnotationAssertion( "MSH:D058729") AnnotationAssertion( "SNOMEDCT_US:399957001") AnnotationAssertion( "SNOMEDCT_US:400047006") AnnotationAssertion( "UMLS:C0085096") @@ -65706,7 +64637,6 @@ SubClassOf( (Pulmonary arteriovenous fistulas) AnnotationAssertion(Annotation( "PMID:27122941") "A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.") -AnnotationAssertion( "MSH:C562404") AnnotationAssertion( "SNOMEDCT_US:111289009") AnnotationAssertion( "UMLS:C0155675") AnnotationAssertion( "HP:0004952") @@ -65906,7 +64836,6 @@ SubClassOf( (Knee dislocation) AnnotationAssertion( "HP:0006469") -AnnotationAssertion( "MSH:D031221") AnnotationAssertion( "SNOMEDCT_US:58320001") AnnotationAssertion( "UMLS:C0159970") AnnotationAssertion( "Dislocations of the knees") @@ -66359,7 +65288,6 @@ SubClassOf( (Knee osteoarthritis) -AnnotationAssertion( "MSH:D020370") AnnotationAssertion( "SNOMEDCT_US:239873007") AnnotationAssertion( "UMLS:C0409959") AnnotationAssertion( "HP:0005086") @@ -66439,7 +65367,6 @@ AnnotationAssertion( AnnotationAssertion( "HP:0008522") AnnotationAssertion( "HP:0008584") AnnotationAssertion( "HP:0008597") -AnnotationAssertion( "MSH:D006316") AnnotationAssertion( "SNOMEDCT_US:232326009") AnnotationAssertion( "SNOMEDCT_US:48758008") AnnotationAssertion( "UMLS:C0018780") @@ -66577,7 +65504,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-25T06:29:00Z") AnnotationAssertion( "HP:0001715") AnnotationAssertion( "HP:0005179") -AnnotationAssertion( "MSH:D001281") AnnotationAssertion( "SNOMEDCT_US:49436004") AnnotationAssertion( "UMLS:C0004238") AnnotationAssertion(Annotation( ) Annotation( ) "Quivering upper heart chambers resulting in irregular heartbeat") @@ -66786,7 +65712,6 @@ SubClassOf( (Coronary artery stenosis) AnnotationAssertion( "Abnormal narrowing of the coronary artery.") -AnnotationAssertion( "MSH:D023921") AnnotationAssertion( "SNOMEDCT_US:233970002") AnnotationAssertion( "UMLS:C0242231") AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of coronary artery") @@ -66843,7 +65768,6 @@ SubClassOf( (Histiocytoid cardiomyopathy) AnnotationAssertion(Annotation( "PMID:21585276") Annotation( "PMID:28050600") "A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.") -AnnotationAssertion( "MSH:C535584") AnnotationAssertion( "UMLS:C1708371") AnnotationAssertion( "Arachnocytosis of the myocardium") AnnotationAssertion( "Foamy myocardial transformation") @@ -66898,7 +65822,6 @@ AnnotationAssertion( "HP:0005175") AnnotationAssertion( "Fyler:0900") AnnotationAssertion( "Fyler:900") -AnnotationAssertion( "MSH:D012587") AnnotationAssertion( "SNOMEDCT_US:111323005") AnnotationAssertion( "SNOMEDCT_US:39905002") AnnotationAssertion( "UMLS:C0036400") @@ -66913,7 +65836,6 @@ SubClassOf( "PMID:10956313") Annotation( "http://www.heart.org/HEARTORG/Conditions/HeartFailure/AboutHeartFailure/Types-of-Heart-Failure_UCM_306323_Article.jsp#.WmeKyJM-dL4") "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.") AnnotationAssertion( "HP:0005154") -AnnotationAssertion( "MSH:D006333") AnnotationAssertion( "SNOMEDCT_US:275514001") AnnotationAssertion( "SNOMEDCT_US:85232009") AnnotationAssertion( "UMLS:C0023212") @@ -67025,7 +65947,6 @@ SubClassOf( ) "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.") AnnotationAssertion( "HP:0004753") AnnotationAssertion( "Fyler:1161") -AnnotationAssertion( "MSH:D014262") AnnotationAssertion( "SNOMEDCT_US:111287006") AnnotationAssertion( "UMLS:C0040961") AnnotationAssertion( "Tricuspid insufficiency") @@ -67086,7 +66007,6 @@ SubClassOf( (Synovial lining hyperplasia) AnnotationAssertion(Annotation( "PMID:27412524") Annotation( "PMID:30618151") "Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.") -AnnotationAssertion( "MSH:D013585") AnnotationAssertion( "SNOMEDCT_US:240206002") AnnotationAssertion( "UMLS:C0410574") AnnotationAssertion( "Synovial hyperplasia") @@ -67175,7 +66095,6 @@ SubClassOf( (Retroperitoneal fibrosis) -AnnotationAssertion( "MSH:D012185") AnnotationAssertion( "SNOMEDCT_US:49120005") AnnotationAssertion( "UMLS:C0035357") AnnotationAssertion( "HP:0005200") @@ -67203,7 +66122,6 @@ SubClassOf( ) "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.") AnnotationAssertion( "HP:0005251") -AnnotationAssertion( "MSH:C536571") AnnotationAssertion( "SNOMEDCT_US:19995004") AnnotationAssertion( "UMLS:C0238115") AnnotationAssertion( "Spontaneous esophageal rupture") @@ -67216,7 +66134,6 @@ SubClassOf( (Pancreatic pseudocyst) AnnotationAssertion(Annotation( ) "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.") -AnnotationAssertion( "MSH:D010192") AnnotationAssertion( "SNOMEDCT_US:111374002") AnnotationAssertion( "UMLS:C0030299") AnnotationAssertion( "HP:0005206") @@ -67296,7 +66213,6 @@ SubClassOf( ) "Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.") AnnotationAssertion( "HP:0005239") -AnnotationAssertion( "MSH:D007415") AnnotationAssertion( "SNOMEDCT_US:81060008") AnnotationAssertion( "UMLS:C0021843") AnnotationAssertion(Annotation( ) Annotation( ) "Bowel obstruction") @@ -67488,7 +66404,6 @@ SubClassOf( ) "A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.") AnnotationAssertion( "HP:0011101") -AnnotationAssertion( "MSH:D007409") AnnotationAssertion( "SNOMEDCT_US:204702007") AnnotationAssertion( "SNOMEDCT_US:360491009") AnnotationAssertion( "UMLS:C0266175") @@ -67535,7 +66450,6 @@ SubClassOf( (Total intestinal aganglionosis) AnnotationAssertion(Annotation( ) Annotation( "PMID:596929") "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.") -AnnotationAssertion( "MSH:C538058") AnnotationAssertion( "SNOMEDCT_US:204745000") AnnotationAssertion( "UMLS:C0345240") AnnotationAssertion( "HP:0005241") @@ -67546,7 +66460,6 @@ SubClassOf( ) "Atresia in the extrahepatic bile duct.") AnnotationAssertion( "HP:0006553") -AnnotationAssertion( "MSH:D001656") AnnotationAssertion( "SNOMEDCT_US:77480004") AnnotationAssertion( "SNOMEDCT_US:82821008") AnnotationAssertion( "UMLS:C0005411") @@ -67589,7 +66502,6 @@ SubClassOf( (Giant hypertrophic gastritis) AnnotationAssertion(Annotation( ) "A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.") -AnnotationAssertion( "MSH:D005758") AnnotationAssertion( "SNOMEDCT_US:413219009") AnnotationAssertion( "SNOMEDCT_US:60002000") AnnotationAssertion( "UMLS:C0017155") @@ -67709,7 +66621,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-26T04:27:00Z") AnnotationAssertion( "HP:0001391") AnnotationAssertion( "HP:0005196") -AnnotationAssertion( "MSH:D006395") AnnotationAssertion( "SNOMEDCT_US:81808003") AnnotationAssertion( "UMLS:C0018924") AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding within a joint") @@ -67741,7 +66652,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-26T04:32:00Z") AnnotationAssertion(Annotation(rdfs:label "Gastritis") "MEDDRA:10017853") -AnnotationAssertion( "MSH:D005756") AnnotationAssertion( "SNOMEDCT_US:4556007") AnnotationAssertion( "UMLS:C0017152") AnnotationAssertion(Annotation( ) Annotation( ) "Stomach inflammation") @@ -67783,7 +66693,6 @@ SubClassOf( ) "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-26T04:46:00Z") -AnnotationAssertion( "MSH:D007417") AnnotationAssertion( "SNOMEDCT_US:254588001") AnnotationAssertion( "UMLS:C0021846") AnnotationAssertion( "Intestinal polyps") @@ -67803,7 +66712,6 @@ SubClassOf( (Miscarriage) AnnotationAssertion(Annotation( ) "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.") -AnnotationAssertion( "MSH:D000022") AnnotationAssertion( "SNOMEDCT_US:17369002") AnnotationAssertion( "UMLS:C0000786") AnnotationAssertion( "Early fetal demise") @@ -68034,7 +66942,6 @@ SubClassOf( (Venous insufficiency) -AnnotationAssertion( "MSH:D014689") AnnotationAssertion( "SNOMEDCT_US:20696009") AnnotationAssertion( "UMLS:C0042485") AnnotationAssertion(Annotation( ) Annotation( ) "Poorly functioning veins") @@ -68046,7 +66953,6 @@ SubClassOf( (Arterial dissection) AnnotationAssertion(Annotation( ) "A separation (dissection) of the layers of an artery.") -AnnotationAssertion( "MSH:D000784") AnnotationAssertion( "SNOMEDCT_US:233992003") AnnotationAssertion( "SNOMEDCT_US:26845001") AnnotationAssertion( "SNOMEDCT_US:710864009") @@ -68157,7 +67063,6 @@ SubClassOf( (Capillary hemangioma) AnnotationAssertion(Annotation( ) "The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.") -AnnotationAssertion( "MSH:D018324") AnnotationAssertion( "SNOMEDCT_US:195382003") AnnotationAssertion( "SNOMEDCT_US:254206003") AnnotationAssertion( "SNOMEDCT_US:402867006") @@ -68223,7 +67128,6 @@ SubClassOf( (Arterial fibromuscular dysplasia) AnnotationAssertion(Annotation( "PMID:27939641") "An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.") -AnnotationAssertion( "MSH:D005352") AnnotationAssertion( "SNOMEDCT_US:31653004") AnnotationAssertion( "SNOMEDCT_US:359553002") AnnotationAssertion( "UMLS:C0016052") @@ -68264,7 +67168,6 @@ SubClassOf( (Cerebral vasculitis) AnnotationAssertion(Annotation( ) "Inflammation of the blood vessels within the brain.") -AnnotationAssertion( "MSH:D020293") AnnotationAssertion( "SNOMEDCT_US:427020007") AnnotationAssertion( "UMLS:C0238051") AnnotationAssertion( "HP:0005318") @@ -68284,7 +67187,6 @@ SubClassOf( (Mandibulofacial dysostosis) AnnotationAssertion(Annotation( ) "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.") -AnnotationAssertion( "MSH:D008342") AnnotationAssertion( "SNOMEDCT_US:82203000") AnnotationAssertion( "UMLS:C0242387") AnnotationAssertion(Annotation( ) "Treacher Collins syndrome") @@ -68311,8 +67213,6 @@ SubClassOf( (Hemifacial hypertrophy) AnnotationAssertion(Annotation( ) "Unilateral overgrowth of facial tissues, including muscles, bones and skin.") -AnnotationAssertion( "MSH:C563014") -AnnotationAssertion( "MSH:D005621") AnnotationAssertion( "SNOMEDCT_US:10394003") AnnotationAssertion( "SNOMEDCT_US:697962004") AnnotationAssertion( "UMLS:C0016719") @@ -68592,7 +67492,6 @@ SubClassOf( (Aplasia of the thymus) AnnotationAssertion(Annotation( ) "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.") -AnnotationAssertion( "MSH:C536288") AnnotationAssertion( "SNOMEDCT_US:702623002") AnnotationAssertion( "SNOMEDCT_US:91918005") AnnotationAssertion( "UMLS:C0685894") @@ -68814,7 +67713,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "An abnormally low count of T cells.") AnnotationAssertion( "HP:0005412") AnnotationAssertion( "HP:0045071") -AnnotationAssertion( "MSH:C536783") AnnotationAssertion( "UMLS:C2931322") AnnotationAssertion(Annotation( ) "Decrease in T cell count") AnnotationAssertion( "Decrease in T cell number") @@ -68997,7 +67895,6 @@ SubClassOf( (Severe recurrent varicella) -AnnotationAssertion( "MSH:C563458") AnnotationAssertion( "UMLS:C1833487") AnnotationAssertion( "HP:0005428") AnnotationAssertion(rdfs:label "Severe recurrent varicella") @@ -69116,7 +68013,6 @@ SubClassOf( (Bridged sella turcica) -AnnotationAssertion( "MSH:C566689") AnnotationAssertion( "UMLS:C1866959") AnnotationAssertion( "HP:0005449") AnnotationAssertion(rdfs:label "Bridged sella turcica") @@ -69167,7 +68063,6 @@ SubClassOf( ) Annotation( ) "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.") AnnotationAssertion(Annotation( ) "Early closure of the cranial sutures") AnnotationAssertion(Annotation( ) "Premature closure of the cranial sutures") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:1667003") AnnotationAssertion( "SNOMEDCT_US:57219006") AnnotationAssertion( "UMLS:C0010278") @@ -69501,7 +68396,6 @@ SubClassOf( (Refractory anemia) -AnnotationAssertion( "MSH:D000753") AnnotationAssertion( "SNOMEDCT_US:128845005") AnnotationAssertion( "UMLS:C0002893") AnnotationAssertion(Annotation( ) "Refractory anaemia") @@ -69514,7 +68408,6 @@ SubClassOf( ) "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.") AnnotationAssertion( "HP:0005544") AnnotationAssertion(Annotation(rdfs:label "chronic myeloid leukemia") "DOID:8552") -AnnotationAssertion( "MSH:D015464") AnnotationAssertion( "SNOMEDCT_US:63364005") AnnotationAssertion( "SNOMEDCT_US:92818009") AnnotationAssertion( "UMLS:C0023473") @@ -69541,7 +68434,6 @@ SubClassOf( (Monoclonal immunoglobulin M proteinemia) AnnotationAssertion(Annotation( ) Annotation( "PMID:25815903") "Presence of a monoclonal immunoglobulin M protein in the serum.") -AnnotationAssertion( "MSH:D008258") AnnotationAssertion( "SNOMEDCT_US:190817009") AnnotationAssertion( "SNOMEDCT_US:190818004") AnnotationAssertion( "SNOMEDCT_US:35562000") @@ -69568,7 +68460,6 @@ SubClassOf( (Heinz body anemia) AnnotationAssertion(Annotation( ) "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.") -AnnotationAssertion( "MSH:C563030") AnnotationAssertion( "UMLS:C0700299") AnnotationAssertion(Annotation( ) "Heinz body anaemia") AnnotationAssertion( "HP:0005511") @@ -69626,7 +68517,6 @@ SubClassOf( (Disseminated intravascular coagulation) AnnotationAssertion(Annotation( ) Annotation( "PMID:10451465") Annotation( "PMID:11816725") "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.") -AnnotationAssertion( "MSH:D004211") AnnotationAssertion( "SNOMEDCT_US:67406007") AnnotationAssertion( "UMLS:C0012739") AnnotationAssertion( "HP:0005521") @@ -69647,7 +68537,6 @@ SubClassOf( (Lymphoproliferative disorder) -AnnotationAssertion( "MSH:D008232") AnnotationAssertion( "SNOMEDCT_US:277466009") AnnotationAssertion( "SNOMEDCT_US:414629003") AnnotationAssertion( "SNOMEDCT_US:77121009") @@ -69675,7 +68564,6 @@ SubClassOf( (Lymphoid leukemia) AnnotationAssertion(Annotation( "NCIT:C7539") "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.") -AnnotationAssertion( "MSH:D007945") AnnotationAssertion( "SNOMEDCT_US:188725004") AnnotationAssertion( "SNOMEDCT_US:32280000") AnnotationAssertion( "UMLS:C0023448") @@ -69691,7 +68579,6 @@ AnnotationAssertion( "HP:0005500") AnnotationAssertion( "HP:0005530") AnnotationAssertion( "HP:0005538") -AnnotationAssertion( "MSH:C537060") AnnotationAssertion( "SNOMEDCT_US:27312002") AnnotationAssertion( "UMLS:C0272340") AnnotationAssertion( "Fitzgerald factor deficiency") @@ -69721,7 +68608,6 @@ SubClassOf( (Biphenotypic acute leukemia) AnnotationAssertion(Annotation( ) Annotation( "PMID:9107085") "A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.") -AnnotationAssertion( "MSH:D015456") AnnotationAssertion( "SNOMEDCT_US:128818009") AnnotationAssertion( "SNOMEDCT_US:278453007") AnnotationAssertion( "UMLS:C0023464") @@ -69744,7 +68630,6 @@ SubClassOf( (Transient myeloproliferative syndrome) AnnotationAssertion(Annotation( "PMID:22966823") "A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.") -AnnotationAssertion( "MSH:C563551") AnnotationAssertion( "SNOMEDCT_US:450934005") AnnotationAssertion( "UMLS:C1834582") AnnotationAssertion(Annotation( ) "TMD") @@ -69800,7 +68685,6 @@ SubClassOf( (Congenital agranulocytosis) AnnotationAssertion(Annotation( ) "Congenital onset of a marked decrease in the number of granulocytes.") -AnnotationAssertion( "MSH:C537592") AnnotationAssertion( "SNOMEDCT_US:89655007") AnnotationAssertion( "UMLS:C1853118") AnnotationAssertion( "HP:0005541") @@ -69820,7 +68704,6 @@ SubClassOf( (Reduced protein C activity) AnnotationAssertion(Annotation( ) "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.") -AnnotationAssertion( "MSH:D020151") AnnotationAssertion( "SNOMEDCT_US:76407009") AnnotationAssertion( "UMLS:C0398625") AnnotationAssertion( "Protein C deficiency") @@ -69839,7 +68722,6 @@ SubClassOf( (Myeloproliferative disorder) AnnotationAssertion(Annotation( ) "Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.") -AnnotationAssertion( "MSH:D009196") AnnotationAssertion( "SNOMEDCT_US:414794006") AnnotationAssertion( "SNOMEDCT_US:425333006") AnnotationAssertion( "UMLS:C0027022") @@ -69872,7 +68754,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.") AnnotationAssertion( "HP:0006734") AnnotationAssertion( "HP:0006760") -AnnotationAssertion( "MSH:D015451") AnnotationAssertion( "SNOMEDCT_US:277473004") AnnotationAssertion( "SNOMEDCT_US:51092000") AnnotationAssertion( "SNOMEDCT_US:92814006") @@ -69958,7 +68839,6 @@ SubClassOf( ) Annotation( ) "An anomaly of the form or number of cells in the bone marrow.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-27T10:46:00Z") -AnnotationAssertion( "MSH:D001855") AnnotationAssertion( "SNOMEDCT_US:127035006") AnnotationAssertion( "UMLS:C0005956") AnnotationAssertion( "UMLS:C4021634") @@ -70016,7 +68896,6 @@ SubClassOf( (Renal magnesium wasting) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:Eurenomics_ewuehl") "High urine magnesium in the presence of hypomagnesemia.") -AnnotationAssertion( "MSH:C537152") AnnotationAssertion( "UMLS:C1835171") AnnotationAssertion( "HP:0005567") AnnotationAssertion(rdfs:label "Renal magnesium wasting") @@ -70048,7 +68927,6 @@ SubClassOf( (Hemolytic-uremic syndrome) AnnotationAssertion(Annotation( "PMID:19846853") Annotation( "PMID:28416508") "A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.") -AnnotationAssertion( "MSH:D006463") AnnotationAssertion( "SNOMEDCT_US:111407006") AnnotationAssertion( "UMLS:C0019061") AnnotationAssertion( "Hemolytic uremic syndrome") @@ -70106,7 +68984,6 @@ SubClassOf( ) "A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.") AnnotationAssertion( "HP:0006720") -AnnotationAssertion( "MSH:D002292") AnnotationAssertion( "NCIT:C2916") AnnotationAssertion( "SNOMEDCT_US:41607009") AnnotationAssertion( "SNOMEDCT_US:702391001") @@ -70227,7 +69104,6 @@ SubClassOf( ) Annotation( "PMID:21139903") "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.") AnnotationAssertion( "HP:0005604") -AnnotationAssertion( "MSH:C536819") AnnotationAssertion( "SNOMEDCT_US:10291008") AnnotationAssertion( "SNOMEDCT_US:254815002") AnnotationAssertion( "UMLS:C1842036") @@ -70431,7 +69307,6 @@ SubClassOf( (Type D brachydactyly) AnnotationAssertion(Annotation( ) "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.") -AnnotationAssertion( "MSH:C562420") AnnotationAssertion( "UMLS:C0220664") AnnotationAssertion( "Brachydactyly type D") AnnotationAssertion( "HP:0005627") @@ -70616,7 +69491,6 @@ SubClassOf( (Dupuytren contracture) AnnotationAssertion(Annotation( ) "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.") -AnnotationAssertion( "MSH:D004387") AnnotationAssertion( "SNOMEDCT_US:203045001") AnnotationAssertion( "SNOMEDCT_US:203047009") AnnotationAssertion( "SNOMEDCT_US:274142002") @@ -70718,7 +69592,6 @@ SubClassOf( (Postaxial polydactyly type A) AnnotationAssertion(Annotation( ) "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.") -AnnotationAssertion( "MSH:C562429") AnnotationAssertion( "SNOMEDCT_US:715704001") AnnotationAssertion( "UMLS:C3887487") AnnotationAssertion( "HP:0005696") @@ -70734,7 +69607,6 @@ SubClassOf( (Multiple enchondromatosis) -AnnotationAssertion( "MSH:D004687") AnnotationAssertion( "SNOMEDCT_US:268274005") AnnotationAssertion( "UMLS:C0014084") AnnotationAssertion( "HP:0005701") @@ -70809,7 +69681,6 @@ SubClassOf( (Nonopposable triphalangeal thumb) AnnotationAssertion(Annotation( ) "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.") -AnnotationAssertion( "MSH:C536562") AnnotationAssertion( "UMLS:C2931238") AnnotationAssertion( "HP:0005725") AnnotationAssertion(rdfs:label "Nonopposable triphalangeal thumb") @@ -70881,7 +69752,6 @@ AnnotationAssertion( "HP:0006448") AnnotationAssertion( "HP:0010887") AnnotationAssertion( "ICD-10:M91.1") -AnnotationAssertion( "MSH:D007873") AnnotationAssertion( "SNOMEDCT_US:111255008") AnnotationAssertion( "SNOMEDCT_US:240241003") AnnotationAssertion( "UMLS:C0023234") @@ -70963,7 +69833,6 @@ SubClassOf( (Basilar impression) AnnotationAssertion(Annotation( ) Annotation( "PMID:10084535") "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.") -AnnotationAssertion( "MSH:D010985") AnnotationAssertion( "SNOMEDCT_US:86587003") AnnotationAssertion( "UMLS:C0032209") AnnotationAssertion( "HP:0005758") @@ -70983,7 +69852,6 @@ SubClassOf( (Polyarticular arthritis) -AnnotationAssertion( "MSH:D001168") AnnotationAssertion( "SNOMEDCT_US:416956002") AnnotationAssertion( "SNOMEDCT_US:417373000") AnnotationAssertion( "UMLS:C0162323") @@ -71203,7 +70071,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Posterior radial head dislocation) AnnotationAssertion(Annotation( ) "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.") -AnnotationAssertion( "MSH:C566728") AnnotationAssertion( "UMLS:C1867398") AnnotationAssertion( "HP:0005798") AnnotationAssertion(rdfs:label "Posterior radial head dislocation") @@ -71334,7 +70201,6 @@ SubClassOf( (Type B brachydactyly) -AnnotationAssertion( "MSH:C566196") AnnotationAssertion( "UMLS:C1862112") AnnotationAssertion( "HP:0005831") AnnotationAssertion(rdfs:label "Type B brachydactyly") @@ -71405,7 +70271,6 @@ SubClassOf( (Congenital talipes calcaneovalgus) -AnnotationAssertion( "MSH:D005413") AnnotationAssertion( "SNOMEDCT_US:205083002") AnnotationAssertion( "SNOMEDCT_US:31668003") AnnotationAssertion( "UMLS:C0152237") @@ -71464,7 +70329,6 @@ SubClassOf( ) "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.") AnnotationAssertion( "HP:0006115") -AnnotationAssertion( "MSH:C566194") AnnotationAssertion( "UMLS:C1862102") AnnotationAssertion( "HP:0005863") AnnotationAssertion(rdfs:label "Type E brachydactyly") @@ -71473,7 +70337,6 @@ SubClassOf( (Pseudoarthrosis) AnnotationAssertion(Annotation( ) "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\").") -AnnotationAssertion( "MSH:D011542") AnnotationAssertion( "SNOMEDCT_US:31511007") AnnotationAssertion( "SNOMEDCT_US:410818009") AnnotationAssertion( "UMLS:C0033785") @@ -71638,7 +70501,6 @@ AnnotationAssertion(Annotation( ) Annotation( ) "Overgrowth of the inside of the skull") AnnotationAssertion(Annotation( ) Annotation( ) "Thick inner surface of the skull bones") AnnotationAssertion(Annotation( ) "Thick internal surface of the cranial bones") -AnnotationAssertion( "MSH:C564168") AnnotationAssertion( "UMLS:C1840404") AnnotationAssertion( "UMLS:C4280468") AnnotationAssertion( "UMLS:C4280469") @@ -71763,7 +70625,6 @@ SubClassOf( ) "Atresia of the biliary tree.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-03-27T02:07:00Z") -AnnotationAssertion( "MSH:D001656") AnnotationAssertion( "SNOMEDCT_US:77480004") AnnotationAssertion( "SNOMEDCT_US:82821008") AnnotationAssertion( "UMLS:C0005411") @@ -72046,7 +70907,6 @@ SubClassOf( (Desquamative interstitial pneumonitis) AnnotationAssertion(Annotation( ) Annotation( "PMID:14338290") Annotation( "PMID:16728712") Annotation( "PMID:16738196") Annotation( "PMID:23728865") Annotation( "PMID:25657025") "Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.") -AnnotationAssertion( "MSH:C562470") AnnotationAssertion( "SNOMEDCT_US:8549006") AnnotationAssertion( "UMLS:C0238378") AnnotationAssertion( "Filling of the alveoli with alveolar macrophages") @@ -72109,7 +70969,6 @@ SubClassOf( (Multiple pulmonary cysts) AnnotationAssertion(Annotation( "PMID:20028879") "The presence of multiple lung cysts.") -AnnotationAssertion( "MSH:C563237") AnnotationAssertion( "UMLS:C1384901") AnnotationAssertion( "Cystic lung disease") AnnotationAssertion( "Multiple lung cysts") @@ -72234,7 +71093,6 @@ SubClassOf( (Respiratory acidosis) AnnotationAssertion(Annotation( ) "Acidosis because of respiratory retention of carbon dioxide.") -AnnotationAssertion( "MSH:D000142") AnnotationAssertion( "SNOMEDCT_US:12326000") AnnotationAssertion( "UMLS:C0001127") AnnotationAssertion( "HP:0005972") @@ -72244,7 +71102,6 @@ SubClassOf( (Fructose intolerance) AnnotationAssertion(Annotation( "PMID:24357350") "Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance.") -AnnotationAssertion( "MSH:D005633") AnnotationAssertion( "SNOMEDCT_US:20052008") AnnotationAssertion( "UMLS:C0016751") AnnotationAssertion( "Fructose malabsorption") @@ -72282,7 +71139,6 @@ SubClassOf( ) "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.") AnnotationAssertion( "HP:0005965") AnnotationAssertion( "HP:0100652") -AnnotationAssertion( "MSH:D003924") AnnotationAssertion( "SNOMEDCT_US:44054006") AnnotationAssertion( "UMLS:C0011860") AnnotationAssertion( "Diabetes mellitus Type II") @@ -72305,7 +71161,6 @@ SubClassOf( "A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.") AnnotationAssertion( "HP:0005971") -AnnotationAssertion( "MSH:D007662") AnnotationAssertion( "UMLS:C1854704") AnnotationAssertion( "Starvation ketoacidosis") AnnotationAssertion( "HP:0005979") @@ -72316,7 +71171,6 @@ SubClassOf( (Reduced phenylalanine hydroxylase level) AnnotationAssertion(Annotation( ) "A reduction in phenylalanine 4-monooxygenase level.") -AnnotationAssertion( "MSH:D010661") AnnotationAssertion( "SNOMEDCT_US:7573000") AnnotationAssertion( "UMLS:C0751434") AnnotationAssertion( "UMLS:C4025094") @@ -72336,7 +71190,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Limitation of neck motion) AnnotationAssertion(Annotation( ) Annotation( ) "Limited neck mobility") -AnnotationAssertion( "MSH:D009127") AnnotationAssertion( "SNOMEDCT_US:161882006") AnnotationAssertion( "SNOMEDCT_US:405947006") AnnotationAssertion( "UMLS:C0151315") @@ -72361,7 +71214,6 @@ SubClassOf( (Congenital muscular torticollis) AnnotationAssertion(Annotation( ) "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.") -AnnotationAssertion( "MSH:C535425") AnnotationAssertion( "SNOMEDCT_US:268240006") AnnotationAssertion( "UMLS:C0079352") AnnotationAssertion( "Torticollis, congenital") @@ -72393,7 +71245,6 @@ SubClassOf( (Thyroid hypoplasia) AnnotationAssertion(Annotation( ) "Developmental hypoplasia of the thyroid gland.") -AnnotationAssertion( "MSH:D050033") AnnotationAssertion( "SNOMEDCT_US:367524008") AnnotationAssertion( "UMLS:C0151516") AnnotationAssertion( "Hypoplastic thyroid") @@ -72416,7 +71267,6 @@ SubClassOf( (Nodular goiter) AnnotationAssertion(Annotation( ) "Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.") -AnnotationAssertion( "MSH:D006044") AnnotationAssertion( "SNOMEDCT_US:419153005") AnnotationAssertion( "UMLS:C0018023") AnnotationAssertion(Annotation( ) "Nodular goitre") @@ -72461,7 +71311,6 @@ SubClassOf( ) "Obstruction of the flow of urine through the ureter.") AnnotationAssertion( "Fyler:4492") -AnnotationAssertion( "MSH:D014517") AnnotationAssertion( "SNOMEDCT_US:20018005") AnnotationAssertion( "UMLS:C0041956") AnnotationAssertion( "HP:0006000") @@ -73755,7 +72604,6 @@ SubClassOf( (Chronic pancreatitis) AnnotationAssertion(Annotation( ) "A chronic form of pancreatitis.") -AnnotationAssertion( "MSH:D050500") AnnotationAssertion( "SNOMEDCT_US:233870001") AnnotationAssertion( "SNOMEDCT_US:234689009") AnnotationAssertion( "SNOMEDCT_US:235494005") @@ -73932,7 +72780,6 @@ AnnotationAssertion( ) "Defective enamel matrix") AnnotationAssertion(Annotation( ) "Thin dental enamel") AnnotationAssertion(Annotation( ) Annotation( ) "Thin tooth enamel") -AnnotationAssertion( "MSH:D003744") AnnotationAssertion( "SNOMEDCT_US:26597004") AnnotationAssertion( "SNOMEDCT_US:699382004") AnnotationAssertion( "SNOMEDCT_US:699421005") @@ -74047,7 +72894,6 @@ AnnotationAssertion(Annotation( "HP:0001568") AnnotationAssertion( "HP:0001573") AnnotationAssertion( "HP:0006356") -AnnotationAssertion( "MSH:C537342") AnnotationAssertion( "SNOMEDCT_US:707609006") AnnotationAssertion( "UMLS:C1840235") AnnotationAssertion(Annotation( ) Annotation( ) "Only one upper front tooth") @@ -74368,7 +73214,6 @@ AnnotationAssertion(Annotation( "HP:0000681") AnnotationAssertion( "HP:0006287") AnnotationAssertion( "HP:0008498") -AnnotationAssertion( "MSH:C563203") AnnotationAssertion( "SNOMEDCT_US:109444001") AnnotationAssertion( "SNOMEDCT_US:234948008") AnnotationAssertion( "UMLS:C0457756") @@ -75092,7 +73937,6 @@ SubClassOf( ) "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.") AnnotationAssertion( "HP:0003000") -AnnotationAssertion( "MSH:D060048") AnnotationAssertion( "UMLS:C0149887") AnnotationAssertion( "Slipped capital femoral epiphyses") AnnotationAssertion( "Slipped capital femoral epiphysis") @@ -75267,7 +74111,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-03-28T05:41:00Z") AnnotationAssertion( "HP:0000697") -AnnotationAssertion( "MSH:D014071") AnnotationAssertion( "SNOMEDCT_US:422775003") AnnotationAssertion( "UMLS:C0040427") AnnotationAssertion( "UMLS:C0262444") @@ -75507,7 +74350,6 @@ AnnotationAssertion( "HP:0005702") AnnotationAssertion( "HP:0005729") AnnotationAssertion( "HP:0006374") -AnnotationAssertion( "MSH:C535568") AnnotationAssertion( "UMLS:C1868577") AnnotationAssertion( "Absent or hypoplastic patellae") AnnotationAssertion( "Absent/hypoplastic patella") @@ -75668,7 +74510,6 @@ SubClassOf( "PMID:25943942") "An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.") AnnotationAssertion( "HP:0006541") -AnnotationAssertion( "MSH:D029424") AnnotationAssertion( "SNOMEDCT_US:13645005") AnnotationAssertion( "UMLS:C0024117") AnnotationAssertion(Annotation( ) "COPD") @@ -75681,7 +74522,6 @@ SubClassOf( (Laryngeal stridor) AnnotationAssertion(Annotation( ) "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.") -AnnotationAssertion( "MSH:D007826") AnnotationAssertion( "SNOMEDCT_US:406444002") AnnotationAssertion( "SNOMEDCT_US:41432000") AnnotationAssertion( "SNOMEDCT_US:53787002") @@ -75704,7 +74544,6 @@ SubClassOf( (Interstitial pneumonitis) -AnnotationAssertion( "MSH:D017563") AnnotationAssertion( "SNOMEDCT_US:64667001") AnnotationAssertion( "UMLS:C0206061") AnnotationAssertion( "HP:0006515") @@ -75714,7 +74553,6 @@ SubClassOf( (Hypersensitivity pneumonitis) AnnotationAssertion(Annotation( ) Annotation( "PMID:15316440") Annotation( "PMID:16635083") Annotation( "PMID:18051218") "Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).") -AnnotationAssertion( "MSH:D000542") AnnotationAssertion( "SNOMEDCT_US:37471005") AnnotationAssertion( "UMLS:C0002390") AnnotationAssertion( "HP:0006516") @@ -75726,7 +74564,6 @@ SubClassOf( ) Annotation( "PMID:21900000") Annotation( "PMID:22891182") "Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.") AnnotationAssertion( "HP:0032982") -AnnotationAssertion( "MSH:D011649") AnnotationAssertion( "SNOMEDCT_US:10501004") AnnotationAssertion( "UMLS:C0034050") AnnotationAssertion( "Alveolar proteinosis") @@ -75741,7 +74578,6 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:20456932") Annotation( "PMID:27009171") "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.") AnnotationAssertion( "Fyler:3002") -AnnotationAssertion( "MSH:D011668") AnnotationAssertion( "SNOMEDCT_US:89420002") AnnotationAssertion( "UMLS:C0034091") AnnotationAssertion( "UMLS:C4280802") @@ -75756,7 +74592,6 @@ SubClassOf( ) "Adenocarcinoma of the Bronchus.") AnnotationAssertion( "HP:0006757") -AnnotationAssertion( "MSH:D002282") AnnotationAssertion( "SNOMEDCT_US:112677002") AnnotationAssertion( "SNOMEDCT_US:36310008") AnnotationAssertion( "SNOMEDCT_US:373627005") @@ -75809,7 +74644,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Lymphocytic interstitial pneumonia) AnnotationAssertion(Annotation( ) Annotation( "PMID:32040879") "Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.") -AnnotationAssertion( "MSH:C562489") AnnotationAssertion( "SNOMEDCT_US:44274007") AnnotationAssertion( "UMLS:C0264511") AnnotationAssertion( "Lymphocytic interstitial pneumonitis") @@ -75846,7 +74680,6 @@ SubClassOf( ) "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.") AnnotationAssertion( "HP:0006513") AnnotationAssertion( "HP:0006547") -AnnotationAssertion( "MSH:D017563") AnnotationAssertion( "SNOMEDCT_US:233703007") AnnotationAssertion( "UMLS:C0206062") AnnotationAssertion( "Abnormal lung parenchyma morphology") @@ -75915,7 +74748,6 @@ SubClassOf( ) "Obstruction of conducting airways of the lung.") AnnotationAssertion( "HP:0006512") -AnnotationAssertion( "MSH:D008173") AnnotationAssertion( "UMLS:C0600260") AnnotationAssertion(Annotation( ) "Obstructive lung disease") AnnotationAssertion( "Pulmonary obstruction") @@ -75950,7 +74782,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Cardiorespiratory arrest) -AnnotationAssertion( "MSH:D006323") AnnotationAssertion( "SNOMEDCT_US:410430005") AnnotationAssertion( "UMLS:C0600228") AnnotationAssertion( "HP:0006543") @@ -76002,7 +74833,6 @@ SubClassOf( ) "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.") AnnotationAssertion( "HP:0006556") -AnnotationAssertion( "MSH:D017114") AnnotationAssertion( "SNOMEDCT_US:197270009") AnnotationAssertion( "SNOMEDCT_US:235884008") AnnotationAssertion( "UMLS:C0162557") @@ -76023,7 +74853,6 @@ SubClassOf( (Polycystic liver disease) -AnnotationAssertion( "MSH:C536330") AnnotationAssertion( "SNOMEDCT_US:72925005") AnnotationAssertion( "UMLS:C0158683") AnnotationAssertion( "HP:0006557") @@ -76189,7 +75018,6 @@ SubClassOf( ) "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.") AnnotationAssertion( "HP:0000986") -AnnotationAssertion( "MSH:D007567") AnnotationAssertion( "SNOMEDCT_US:387712008") AnnotationAssertion( "UMLS:C0022353") AnnotationAssertion( "UMLS:C1859236") @@ -76339,7 +75167,6 @@ SubClassOf( (Diaphragmatic paralysis) AnnotationAssertion(Annotation( ) Annotation( "PMID:3612666") "The presence of a paralyzed diaphragm.") -AnnotationAssertion( "MSH:D012133") AnnotationAssertion( "SNOMEDCT_US:64228003") AnnotationAssertion( "UMLS:C0035232") AnnotationAssertion(Annotation( ) "Diaphragmatic paralysis") @@ -76762,7 +75589,6 @@ SubClassOf( ) Annotation( "PMID:30422584") Annotation( "PMID:32063472") Annotation( "PMID:32528299") "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.") AnnotationAssertion( "HP:0006678") AnnotationAssertion( "HP:0034041") -AnnotationAssertion( "MSH:D018879") AnnotationAssertion( "SNOMEDCT_US:17338001") AnnotationAssertion( "SNOMEDCT_US:251175005") AnnotationAssertion( "UMLS:C0151636") @@ -76800,7 +75626,6 @@ SubClassOf( ) Annotation( "PMID:29043203") "The presence of excessive connective tissue in the endocardium.") AnnotationAssertion( "HP:0005169") -AnnotationAssertion( "MSH:D004719") AnnotationAssertion( "SNOMEDCT_US:398716006") AnnotationAssertion( "UMLS:C0553980") AnnotationAssertion( "Endomyocardial fibrosis") @@ -76819,7 +75644,6 @@ SubClassOf( (Paroxysmal tachycardia) -AnnotationAssertion( "MSH:D013614") AnnotationAssertion( "SNOMEDCT_US:12026006") AnnotationAssertion( "UMLS:C0039236") AnnotationAssertion( "HP:0006688") @@ -76831,7 +75655,6 @@ SubClassOf( ) "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T02:57:48Z") -AnnotationAssertion( "MSH:D004697") AnnotationAssertion( "SNOMEDCT_US:301183007") AnnotationAssertion( "UMLS:C0014121") AnnotationAssertion(Annotation( ) "Infective endocarditis") @@ -76897,8 +75720,6 @@ AnnotationAssertion(Annotation( "Fyler:0606") AnnotationAssertion( "Fyler:1100") AnnotationAssertion( "Fyler:606") -AnnotationAssertion( "MSH:C562831") -AnnotationAssertion( "MSH:D004694") AnnotationAssertion( "SNOMEDCT_US:15459006") AnnotationAssertion( "UMLS:C0014116") AnnotationAssertion( "UMLS:C1389016") @@ -76932,7 +75753,6 @@ SubClassOf( (Premature atrial contractions) AnnotationAssertion( "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.") -AnnotationAssertion( "MSH:D018880") AnnotationAssertion( "SNOMEDCT_US:284470004") AnnotationAssertion( "SNOMEDCT_US:287057009") AnnotationAssertion( "SNOMEDCT_US:406461004") @@ -76950,7 +75770,6 @@ SubClassOf( (Coronary artery dissection) AnnotationAssertion(Annotation( ) Annotation( "PMID:20448134") "Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.") -AnnotationAssertion( "MSH:C565153") AnnotationAssertion( "UMLS:C1852540") AnnotationAssertion( "HP:0006702") AnnotationAssertion(rdfs:label "Coronary artery dissection") @@ -76998,7 +75817,6 @@ SubClassOf( ) AnnotationAssertion( "2008-03-29T03:37:00Z") -AnnotationAssertion( "MSH:C536330") AnnotationAssertion( "SNOMEDCT_US:72925005") AnnotationAssertion( "UMLS:C0158683") AnnotationAssertion( "HP:0006706") @@ -77192,7 +76010,6 @@ SubClassOf( (T-cell acute lymphoblastic leukemias) AnnotationAssertion(Annotation( "NCIT:C3183") "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.") -AnnotationAssertion( "MSH:D054218") AnnotationAssertion( "SNOMEDCT_US:128824003") AnnotationAssertion( "SNOMEDCT_US:277575008") AnnotationAssertion( "UMLS:C1961099") @@ -77214,7 +76031,6 @@ SubClassOf( (Follicular thyroid carcinoma) AnnotationAssertion(Annotation( ) "The presence of an follicular adenocarcinoma of the thyroid gland.") -AnnotationAssertion( "MSH:D018263") AnnotationAssertion( "NCIT:C8054") AnnotationAssertion( "SNOMEDCT_US:255028004") AnnotationAssertion( "SNOMEDCT_US:28173006") @@ -77236,7 +76052,6 @@ SubClassOf( (Acute megakaryocytic leukemia) AnnotationAssertion( "A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.") -AnnotationAssertion( "MSH:D015470") AnnotationAssertion( "SNOMEDCT_US:17788007") AnnotationAssertion( "SNOMEDCT_US:413443009") AnnotationAssertion( "SNOMEDCT_US:91861009") @@ -77262,7 +76077,6 @@ SubClassOf( ) "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.") AnnotationAssertion( "HP:0006764") -AnnotationAssertion( "MSH:D010673") AnnotationAssertion( "UMLS:C1257877") AnnotationAssertion( "Pheochromocytoma, extraadrenal") AnnotationAssertion( "HP:0006737") @@ -77301,7 +76115,6 @@ SubClassOf( (Embryonal rhabdomyosarcoma) -AnnotationAssertion( "MSH:D018233") AnnotationAssertion( "NCIT:C8971") AnnotationAssertion( "SNOMEDCT_US:14269005") AnnotationAssertion( "SNOMEDCT_US:404051002") @@ -77316,7 +76129,6 @@ SubClassOf( ) "A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.") AnnotationAssertion( "HP:0002889") AnnotationAssertion( "HP:0006759") -AnnotationAssertion( "MSH:D018268") AnnotationAssertion( "NCIT:C2916") AnnotationAssertion( "SNOMEDCT_US:2227007") AnnotationAssertion( "SNOMEDCT_US:255035007") @@ -77329,7 +76141,6 @@ SubClassOf( (Ganglioneuroblastoma) -AnnotationAssertion( "MSH:D018305") AnnotationAssertion( "SNOMEDCT_US:116381000119105") AnnotationAssertion( "SNOMEDCT_US:69515008") AnnotationAssertion( "UMLS:C0206718") @@ -77341,7 +76152,6 @@ SubClassOf( ) "Pheochromocytoma originating from the adrenal medulla.") AnnotationAssertion( "HP:0006752") -AnnotationAssertion( "MSH:D010673") AnnotationAssertion( "NCIT:C3326") AnnotationAssertion( "SNOMEDCT_US:302835009") AnnotationAssertion( "SNOMEDCT_US:399343007") @@ -77356,7 +76166,6 @@ SubClassOf( (Malignant gastrointestinal tract tumors) -AnnotationAssertion( "MSH:D005770") AnnotationAssertion( "SNOMEDCT_US:428905002") AnnotationAssertion( "UMLS:C0685938") AnnotationAssertion(Annotation( ) Annotation( ) "Malignant GI tract tumors") @@ -77378,7 +76187,6 @@ SubClassOf( (Neoplasm of the stomach) AnnotationAssertion(Annotation( ) "A tumor (abnormal growth of tissue) of the stomach.") -AnnotationAssertion( "MSH:D013274") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126824007") AnnotationAssertion( "UMLS:C0038356") @@ -77440,7 +76248,6 @@ SubClassOf( (Chondrosarcoma) AnnotationAssertion(Annotation( ) "A slowly growing malignant neoplasm derived from cartilage cells.") -AnnotationAssertion( "MSH:D002813") AnnotationAssertion( "NCIT:C2946") AnnotationAssertion( "SNOMEDCT_US:14990007") AnnotationAssertion( "SNOMEDCT_US:443520009") @@ -77454,7 +76261,6 @@ SubClassOf( ) "The presence of renal cell carcinoma in the renal papilla.") AnnotationAssertion( "HP:0006776") -AnnotationAssertion( "MSH:D002292") AnnotationAssertion( "NCIT:C2916") AnnotationAssertion( "UMLS:C1306837") AnnotationAssertion( "HP:0006766") @@ -77465,7 +76271,6 @@ SubClassOf( ) "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.") AnnotationAssertion( "HP:0040278") -AnnotationAssertion( "MSH:D015175") AnnotationAssertion( "SNOMEDCT_US:134209002") AnnotationAssertion( "SNOMEDCT_US:34337008") AnnotationAssertion( "UMLS:C0033375") @@ -77496,7 +76301,6 @@ SubClassOf( (Clear cell renal cell carcinoma) AnnotationAssertion(Annotation( ) "A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.") -AnnotationAssertion( "MSH:D002292") AnnotationAssertion( "SNOMEDCT_US:188251003") AnnotationAssertion( "SNOMEDCT_US:254915003") AnnotationAssertion( "SNOMEDCT_US:41607009") @@ -77509,7 +76313,6 @@ SubClassOf( (Duodenal adenocarcinoma) AnnotationAssertion(Annotation( ) "A malignant epithelial tumor with a glandular organization that originates in the duodenum.") -AnnotationAssertion( "MSH:D004379") AnnotationAssertion( "NCIT:C2852") AnnotationAssertion( "SNOMEDCT_US:254570009") AnnotationAssertion( "SNOMEDCT_US:408644002") @@ -77554,8 +76357,6 @@ SubClassOf( (Multiple myeloma) AnnotationAssertion(Annotation( ) "A malignant plasma cell tumor growing within soft tissue or within the skeleton.") -AnnotationAssertion( "MSH:D009101") -AnnotationAssertion( "MSH:D010954") AnnotationAssertion( "SNOMEDCT_US:10639003") AnnotationAssertion( "SNOMEDCT_US:109989006") AnnotationAssertion( "SNOMEDCT_US:415112005") @@ -77582,7 +76383,6 @@ SubClassOf( (Alveolar rhabdomyosarcoma) -AnnotationAssertion( "MSH:D018232") AnnotationAssertion( "NCIT:C3749") AnnotationAssertion( "SNOMEDCT_US:404053004") AnnotationAssertion( "SNOMEDCT_US:63449009") @@ -77594,7 +76394,6 @@ SubClassOf( (Parathyroid carcinoma) AnnotationAssertion(Annotation( ) "A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.") -AnnotationAssertion( "MSH:D010282") AnnotationAssertion( "NCIT:C2916") AnnotationAssertion( "SNOMEDCT_US:255037004") AnnotationAssertion( "SNOMEDCT_US:363481002") @@ -77615,7 +76414,6 @@ SubClassOf( (Malignant eosinophil proliferation) -AnnotationAssertion( "MSH:C565054") AnnotationAssertion( "UMLS:C1851585") AnnotationAssertion( "HP:0006782") AnnotationAssertion(rdfs:label "Malignant eosinophil proliferation") @@ -77652,7 +76450,6 @@ SubClassOf( ) "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).") AnnotationAssertion( "HP:0009066") -AnnotationAssertion( "MSH:D049288") AnnotationAssertion( "SNOMEDCT_US:93153005") AnnotationAssertion( "UMLS:C0686353") AnnotationAssertion( "limb girdle muscular dystrophy") @@ -77663,7 +76460,6 @@ SubClassOf( (Mitochondrial encephalopathy) -AnnotationAssertion( "MSH:C538525") AnnotationAssertion( "UMLS:C1852373") AnnotationAssertion( "HP:0006789") AnnotationAssertion(rdfs:label "Mitochondrial encephalopathy") @@ -77708,7 +76504,6 @@ SubClassOf( ) "Any anomaly of the anterior horn cell.") AnnotationAssertion( "Abnormality of the anterior horn cell") -AnnotationAssertion( "MSH:D016472") AnnotationAssertion( "SNOMEDCT_US:85672005") AnnotationAssertion( "UMLS:C0154681") AnnotationAssertion( "UMLS:C4020812") @@ -77787,7 +76582,6 @@ SubClassOf( (4-layered lissencephaly) AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "PMID:28440899") "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.") -AnnotationAssertion( "MSH:D054221") AnnotationAssertion( "SNOMEDCT_US:253147000") AnnotationAssertion( "UMLS:C0431375") AnnotationAssertion(Annotation( ) "Classic lissencephaly") @@ -77812,7 +76606,6 @@ SubClassOf( "HP:0001353") AnnotationAssertion( "HP:0002377") -AnnotationAssertion( "MSH:D003389") AnnotationAssertion( "SNOMEDCT_US:73013002") AnnotationAssertion( "UMLS:C0151311") AnnotationAssertion( "UMLS:C4025709") @@ -77870,7 +76663,6 @@ SubClassOf( (Congenital Horner syndrome) AnnotationAssertion(Annotation( ) "A type of Horner syndrome with congenital onset.") -AnnotationAssertion( "MSH:C564178") AnnotationAssertion( "UMLS:C1840475") AnnotationAssertion( "HP:0006837") AnnotationAssertion(rdfs:label "Congenital Horner syndrome") @@ -77993,7 +76785,6 @@ SubClassOf( (Lobar holoprosencephaly) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:GC_HPE") "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.") -AnnotationAssertion( "MSH:D016142") AnnotationAssertion( "SNOMEDCT_US:253136007") AnnotationAssertion( "UMLS:C0431362") AnnotationAssertion( "HP:0006870") @@ -78164,7 +76955,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D006212") AnnotationAssertion( "SNOMEDCT_US:69690008") AnnotationAssertion( "UMLS:C0424082") AnnotationAssertion( "Hallucinations while awaking") @@ -78177,8 +76967,6 @@ SubClassOf( "PMID:29489275") "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.") AnnotationAssertion( "HP:0011349") -AnnotationAssertion( "MSH:C564661") -AnnotationAssertion( "MSH:D020434") AnnotationAssertion( "SNOMEDCT_US:398760006") AnnotationAssertion( "SNOMEDCT_US:398925009") AnnotationAssertion( "SNOMEDCT_US:398963001") @@ -78261,7 +77049,6 @@ SubClassOf( (Diffuse cerebral sclerosis) -AnnotationAssertion( "MSH:D002549") AnnotationAssertion( "SNOMEDCT_US:49692006") AnnotationAssertion( "UMLS:C0007795") AnnotationAssertion( "HP:0006918") @@ -78354,7 +77141,6 @@ SubClassOf( (Congenital nystagmus) AnnotationAssertion(Annotation( ) "Nystagmus dating from or present at birth.") -AnnotationAssertion( "MSH:D020417") AnnotationAssertion( "SNOMEDCT_US:64635004") AnnotationAssertion( "UMLS:C0700501") AnnotationAssertion(Annotation( ) "Nystagmus, congenital") @@ -78527,7 +77313,6 @@ SubClassOf( (Periventricular leukomalacia) AnnotationAssertion(Annotation( "PMID:16808630") Annotation( "PMID:18852342") Annotation( "PMID:28406931") "Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.") -AnnotationAssertion( "MSH:D007969") AnnotationAssertion( "SNOMEDCT_US:230769007") AnnotationAssertion( "UMLS:C0023529") AnnotationAssertion(Annotation( ) "PVL") @@ -78621,7 +77406,6 @@ SubClassOf( (Alobar holoprosencephaly) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:GC_HPE") "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.") -AnnotationAssertion( "MSH:D016142") AnnotationAssertion( "SNOMEDCT_US:253137003") AnnotationAssertion( "UMLS:C0431363") AnnotationAssertion( "HP:0006988") @@ -78746,7 +77530,6 @@ SubClassOf( (Fourth cranial nerve palsy) AnnotationAssertion(Annotation( ) "Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.") -AnnotationAssertion( "MSH:D020432") AnnotationAssertion( "SNOMEDCT_US:20610004") AnnotationAssertion( "UMLS:C0271375") AnnotationAssertion( "Trochlear nerve palsy") @@ -78788,7 +77571,6 @@ AnnotationAssertion(Annotation( "HP:0001576") AnnotationAssertion( "HP:0001577") AnnotationAssertion( "HP:0006973") -AnnotationAssertion( "MSH:D001289") AnnotationAssertion( "SNOMEDCT_US:406506008") AnnotationAssertion( "SNOMEDCT_US:7461003") AnnotationAssertion( "UMLS:C1263846") @@ -78838,7 +77620,6 @@ SubClassOf( ) "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.") AnnotationAssertion( "HP:0002201") AnnotationAssertion( "HP:0006819") -AnnotationAssertion( "MSH:D020828") AnnotationAssertion( "SNOMEDCT_US:7379000") AnnotationAssertion( "UMLS:C0033790") AnnotationAssertion( "Pseudobulbar palsy") @@ -78864,7 +77645,6 @@ SubClassOf( (Cerebral berry aneurysm) AnnotationAssertion(Annotation( ) "A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.") -AnnotationAssertion( "MSH:D000783") AnnotationAssertion( "SNOMEDCT_US:54002007") AnnotationAssertion( "UMLS:C2713497") AnnotationAssertion( "Cerebral saccular aneurysm") @@ -79185,7 +77965,6 @@ SubClassOf( ) Annotation( "PMID:28613730") "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)") AnnotationAssertion( "HP:0002440") -AnnotationAssertion( "MSH:D001139") AnnotationAssertion( "SNOMEDCT_US:253185002") AnnotationAssertion( "UMLS:C0750929") AnnotationAssertion( "Arnold Chiari type I malformation") @@ -79473,7 +78252,6 @@ SubClassOf( (Paroxysmal dyskinesia) AnnotationAssertion(Annotation( ) "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.") -AnnotationAssertion( "MSH:D002819") AnnotationAssertion( "UMLS:C0752210") AnnotationAssertion( "UMLS:C1836174") AnnotationAssertion( "Involuntary dystonic or choreiform movements") @@ -79485,8 +78263,6 @@ SubClassOf( (Motor polyneuropathy) AnnotationAssertion( "HP:0007278") -AnnotationAssertion( "MSH:D009443") -AnnotationAssertion( "MSH:D011115") AnnotationAssertion( "SNOMEDCT_US:85423005") AnnotationAssertion( "SNOMEDCT_US:95663000") AnnotationAssertion( "UMLS:C0235025") @@ -79547,7 +78323,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D014474") AnnotationAssertion( "SNOMEDCT_US:418107008") AnnotationAssertion( "SNOMEDCT_US:419045004") AnnotationAssertion( "UMLS:C0041657") @@ -79569,7 +78344,6 @@ SubClassOf( (Congenital facial diplegia) AnnotationAssertion(Annotation( ) "Facial diplegia (that is, bilateral facial palsy) with congenital onset.") -AnnotationAssertion( "MSH:C531747") AnnotationAssertion( "UMLS:C0853240") AnnotationAssertion(Annotation( ) "Congenital bilateral facial palsy") AnnotationAssertion(Annotation( ) "Congenital bilateral facial weakness") @@ -79645,7 +78419,6 @@ SubClassOf( (Hemimegalencephaly) AnnotationAssertion(Annotation( ) Annotation( "PMID:17416820") "Enlargement of all or parts of one cerebral hemisphere.") -AnnotationAssertion( "MSH:D065705") AnnotationAssertion( "SNOMEDCT_US:253170008") AnnotationAssertion( "UMLS:C0431391") AnnotationAssertion( "HP:0007206") @@ -79677,7 +78450,6 @@ SubClassOf( ) "Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).") AnnotationAssertion( "HP:0007358") -AnnotationAssertion( "MSH:D005158") AnnotationAssertion( "SNOMEDCT_US:280816001") AnnotationAssertion( "SNOMEDCT_US:95666008") AnnotationAssertion( "UMLS:C0015469") @@ -79705,7 +78477,6 @@ SubClassOf( (Periodic hyperkalemic paralysis) AnnotationAssertion(Annotation( ) "Episodes of muscle weakness associated with elevated levels of potassium in the blood.") -AnnotationAssertion( "MSH:D020513") AnnotationAssertion( "SNOMEDCT_US:304737009") AnnotationAssertion( "UMLS:C0238357") AnnotationAssertion( "Hyperkalemic periodic paralysis") @@ -79849,7 +78620,6 @@ SubClassOf( ) "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.") AnnotationAssertion( "HP:0006853") -AnnotationAssertion( "MSH:D054222") AnnotationAssertion( "SNOMEDCT_US:253149002") AnnotationAssertion( "UMLS:C0431376") AnnotationAssertion( "Cobblestone lissencephaly") @@ -79870,7 +78640,6 @@ SubClassOf( (Spinocerebellar atrophy) AnnotationAssertion(Annotation( ) "Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.") -AnnotationAssertion( "MSH:D020754") AnnotationAssertion( "SNOMEDCT_US:129609000") AnnotationAssertion( "UMLS:C0087012") AnnotationAssertion( "HP:0007263") @@ -79916,7 +78685,6 @@ SubClassOf( (Aprosencephaly) -AnnotationAssertion( "MSH:D000757") AnnotationAssertion( "SNOMEDCT_US:277922001") AnnotationAssertion( "UMLS:C0431349") AnnotationAssertion( "HP:0007268") @@ -79926,7 +78694,6 @@ SubClassOf( (Spinal muscular atrophy) AnnotationAssertion(Annotation( ) "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.") -AnnotationAssertion( "MSH:D009134") AnnotationAssertion( "SNOMEDCT_US:5262007") AnnotationAssertion( "UMLS:C0026847") AnnotationAssertion(Annotation( ) Annotation( ) "Spinal muscle degeneration") @@ -80083,7 +78850,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "HP:0000755") -AnnotationAssertion( "MSH:D001714") AnnotationAssertion( "SNOMEDCT_US:13746004") AnnotationAssertion( "UMLS:C0005586") AnnotationAssertion( "Bipolar depression") @@ -80205,7 +78971,6 @@ SubClassOf( (Frontal encephalocele) -AnnotationAssertion( "MSH:D004677") AnnotationAssertion( "SNOMEDCT_US:253103006") AnnotationAssertion( "UMLS:C0431289") AnnotationAssertion( "HP:0007330") @@ -80384,7 +79149,6 @@ SubClassOf( (Amyotrophic lateral sclerosis) -AnnotationAssertion( "MSH:D000690") AnnotationAssertion( "SNOMEDCT_US:86044005") AnnotationAssertion( "UMLS:C0002736") AnnotationAssertion(Annotation( ) Annotation( ) "Lou Gehrig's disease") @@ -80399,7 +79163,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2008-03-31T05:27:00Z") AnnotationAssertion( "HP:0002358") AnnotationAssertion( "HP:0040168") -AnnotationAssertion( "MSH:D012640") AnnotationAssertion( "SNOMEDCT_US:29753000") AnnotationAssertion( "UMLS:C0751495") AnnotationAssertion( "Focal onset seizure") @@ -80643,7 +79406,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the gastrointestinal tract.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-04-01T11:55:00Z") -AnnotationAssertion( "MSH:D005770") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126768004") AnnotationAssertion( "UMLS:C0017185") @@ -80664,7 +79426,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the genitourinary system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-04-01T12:00:00Z") -AnnotationAssertion( "MSH:D014565") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "UMLS:C0042065") AnnotationAssertion( "UMLS:C4020809") @@ -80816,7 +79577,6 @@ SubClassOf( (Macular atrophy) AnnotationAssertion(Annotation( ) "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.") -AnnotationAssertion( "MSH:D057088") AnnotationAssertion( "SNOMEDCT_US:238828009") AnnotationAssertion( "UMLS:C1288283") AnnotationAssertion( "HP:0007401") @@ -80843,7 +79603,6 @@ SubClassOf( (Nonepidermolytic palmoplantar hyperkeratosis) AnnotationAssertion(Annotation( "PMID:7528239") "Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.") -AnnotationAssertion( "MSH:C563422") AnnotationAssertion( "UMLS:C1833030") AnnotationAssertion( "Nonepidermolytic palmoplantar keratoderma") AnnotationAssertion( "HP:0007404") @@ -80852,7 +79611,6 @@ SubClassOf( (Hyperpigmentation of eyelids) -AnnotationAssertion( "MSH:C562400") AnnotationAssertion( "SNOMEDCT_US:41115008") AnnotationAssertion( "UMLS:C0155211") AnnotationAssertion( "UMLS:C0854438") @@ -80893,7 +79651,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "An abnormally increased perspiration on palms and soles.") AnnotationAssertion( "HP:0007624") -AnnotationAssertion( "MSH:C563185") AnnotationAssertion( "SNOMEDCT_US:403375001") AnnotationAssertion( "UMLS:C1274743") AnnotationAssertion(Annotation( ) Annotation( ) "Excessive sweating of palms and soles") @@ -80940,7 +79697,6 @@ SubClassOf( "Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "HP:0000981") -AnnotationAssertion( "MSH:D008179") AnnotationAssertion( "SNOMEDCT_US:200938002") AnnotationAssertion( "SNOMEDCT_US:238927000") AnnotationAssertion( "UMLS:C0024138") @@ -81036,7 +79792,6 @@ SubClassOf( ) "An ichthyosiform abnormality of the skin with congenital onset.") AnnotationAssertion( "HP:0007478") AnnotationAssertion( "HP:0007484") -AnnotationAssertion( "MSH:D016113") AnnotationAssertion( "SNOMEDCT_US:254156001") AnnotationAssertion( "SNOMEDCT_US:268282005") AnnotationAssertion( "UMLS:C0079583") @@ -81080,7 +79835,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Multiple cutaneous leiomyomas) AnnotationAssertion(Annotation( ) "The presence of multiple leiomyomas of the skin.") -AnnotationAssertion( "MSH:C535516") AnnotationAssertion( "NCIT:C3157") AnnotationAssertion( "UMLS:C1708350") AnnotationAssertion( "HP:0007437") @@ -81124,7 +79878,6 @@ SubClassOf( ) "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.") AnnotationAssertion( "HP:0001044") -AnnotationAssertion( "MSH:D016116") AnnotationAssertion( "SNOMEDCT_US:6479008") AnnotationAssertion( "SNOMEDCT_US:718122005") AnnotationAssertion( "UMLS:C0080024") @@ -81149,7 +79902,6 @@ SubClassOf( "PMID:17298101") "Diffuse abnormal thickening of the skin on the palms and soles.") AnnotationAssertion( "HP:0007435") -AnnotationAssertion( "MSH:D015776") AnnotationAssertion( "UMLS:C4021575") AnnotationAssertion( "Diffuse palmoplantar keratoderma") AnnotationAssertion( "Hyperkeratosis, diffuse palmoplantar") @@ -81210,7 +79962,6 @@ SubClassOf( (Adermatoglyphia) -AnnotationAssertion( "MSH:C565010") AnnotationAssertion( "UMLS:C1852150") AnnotationAssertion( "HP:0007455") AnnotationAssertion(rdfs:label "Adermatoglyphia") @@ -81352,7 +80103,6 @@ SubClassOf( (Congenital bullous ichthyosiform erythroderma) AnnotationAssertion(Annotation( ) "An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.") -AnnotationAssertion( "MSH:D017488") AnnotationAssertion( "SNOMEDCT_US:239071005") AnnotationAssertion( "SNOMEDCT_US:254167000") AnnotationAssertion( "UMLS:C0079153") @@ -81365,7 +80115,6 @@ SubClassOf( (Anhidrotic ectodermal dysplasia) -AnnotationAssertion( "MSH:D004476") AnnotationAssertion( "SNOMEDCT_US:7731005") AnnotationAssertion( "UMLS:C1706004") AnnotationAssertion( "HP:0007476") @@ -81393,7 +80142,6 @@ AnnotationAssertion( "HP:0007512") AnnotationAssertion( "HP:0007619") AnnotationAssertion( "HP:0007625") -AnnotationAssertion( "MSH:D017490") AnnotationAssertion( "SNOMEDCT_US:205550003") AnnotationAssertion( "SNOMEDCT_US:267372009") AnnotationAssertion( "SNOMEDCT_US:268245001") @@ -81705,7 +80453,6 @@ SubClassOf( (Atypical neurofibromatosis) -AnnotationAssertion( "MSH:C537392") AnnotationAssertion( "UMLS:C0220695") AnnotationAssertion( "HP:0007524") AnnotationAssertion(rdfs:label "Atypical neurofibromatosis") @@ -81730,7 +80477,6 @@ SubClassOf( (Hidrotic ectodermal dysplasia) -AnnotationAssertion( "MSH:D004476") AnnotationAssertion( "SNOMEDCT_US:54209007") AnnotationAssertion( "UMLS:C0162361") AnnotationAssertion( "HP:0007529") @@ -81807,7 +80553,6 @@ SubClassOf( (Piebald skin depigmentation) AnnotationAssertion(Annotation( ) "Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules.") -AnnotationAssertion( "MSH:D016116") AnnotationAssertion( "SNOMEDCT_US:6479008") AnnotationAssertion( "SNOMEDCT_US:718122005") AnnotationAssertion( "UMLS:C0080024") @@ -81896,7 +80641,6 @@ SubClassOf( (Localized epidermolytic hyperkeratosis) -AnnotationAssertion( "MSH:D053546") AnnotationAssertion( "UMLS:C1721006") AnnotationAssertion(Annotation( ) "Localised epidermolytic hyperkeratosis") AnnotationAssertion( "HP:0007559") @@ -81923,7 +80667,6 @@ AnnotationAssertion(Annotation( "HP:0007416") AnnotationAssertion(Annotation( ) "Multiple birthmarks") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Multiple flat light-brown marks on skin") -AnnotationAssertion( "MSH:C537421") AnnotationAssertion( "UMLS:C1861975") AnnotationAssertion( "HP:0007565") AnnotationAssertion(rdfs:label "Multiple cafe-au-lait spots") @@ -81950,7 +80693,6 @@ SubClassOf( (Hyperkeratosis lenticularis perstans) AnnotationAssertion(Annotation( ) "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.") -AnnotationAssertion( "MSH:C538377") AnnotationAssertion( "SNOMEDCT_US:28488007") AnnotationAssertion( "UMLS:C0263420") AnnotationAssertion( "Flegel disease") @@ -82152,7 +80894,6 @@ SubClassOf( (Hypohidrotic ectodermal dysplasia) -AnnotationAssertion( "MSH:D053358") AnnotationAssertion( "SNOMEDCT_US:239007005") AnnotationAssertion( "SNOMEDCT_US:7731005") AnnotationAssertion( "UMLS:C0162359") @@ -82370,8 +81111,6 @@ AnnotationAssertion(Annotation( "HP:0007684") AnnotationAssertion( "HP:0007861") AnnotationAssertion( "HP:0007953") -AnnotationAssertion( "MSH:C536122") -AnnotationAssertion( "MSH:C537743") AnnotationAssertion( "SNOMEDCT_US:193687000") AnnotationAssertion( "SNOMEDCT_US:232061009") AnnotationAssertion( "UMLS:C0339535") @@ -82601,7 +81340,6 @@ SubClassOf( ) Annotation( "PMID:18289629") "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.") AnnotationAssertion( "HP:0007878") -AnnotationAssertion( "MSH:D057826") AnnotationAssertion( "SNOMEDCT_US:90036004") AnnotationAssertion( "UMLS:C0339510") AnnotationAssertion( "UMLS:C4024817") @@ -82642,7 +81380,6 @@ SubClassOf( (Abnormal pupillary function) AnnotationAssertion(Annotation( ) "A functional abnormality of the pupil.") -AnnotationAssertion( "MSH:D011681") AnnotationAssertion( "SNOMEDCT_US:72124005") AnnotationAssertion( "UMLS:C0917967") AnnotationAssertion( "HP:0007686") @@ -82793,7 +81530,6 @@ SubClassOf( (Congenital aphakia) AnnotationAssertion(Annotation( ) "Absence of the crystalline lens of the eye as a result of a developmental defect.") -AnnotationAssertion( "MSH:C537786") AnnotationAssertion( "UMLS:C1853230") AnnotationAssertion( "Lens agenesis") AnnotationAssertion( "HP:0007707") @@ -82811,7 +81547,6 @@ SubClassOf( (Band-shaped corneal dystrophy) AnnotationAssertion( "A type of genetically determined disease of the cornea with corneal lesions with a band-like shape.") -AnnotationAssertion( "MSH:C562399") AnnotationAssertion( "SNOMEDCT_US:35055000") AnnotationAssertion( "UMLS:C0155120") AnnotationAssertion( "HP:0007709") @@ -82850,7 +81585,6 @@ SubClassOf( (Uveal melanoma) AnnotationAssertion(Annotation( ) "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).") -AnnotationAssertion( "MSH:C536494") AnnotationAssertion( "NCIT:C3224") AnnotationAssertion( "UMLS:C0220633") AnnotationAssertion( "Intraocular melanoma") @@ -82911,7 +81645,6 @@ SubClassOf( (Congenital miosis) AnnotationAssertion(Annotation( ) "Abnormal (non-physiological) constriction of the pupil of congenital onset.") -AnnotationAssertion( "MSH:C537550") AnnotationAssertion( "SNOMEDCT_US:400962005") AnnotationAssertion( "UMLS:C1303009") AnnotationAssertion( "HP:0007728") @@ -83065,7 +81798,6 @@ SubClassOf( (Juvenile epithelial corneal dystrophy) -AnnotationAssertion( "MSH:D053559") AnnotationAssertion( "SNOMEDCT_US:1674008") AnnotationAssertion( "UMLS:C0339277") AnnotationAssertion( "HP:0007755") @@ -83114,7 +81846,6 @@ SubClassOf( (Crystalline corneal dystrophy) -AnnotationAssertion( "MSH:C535475") AnnotationAssertion( "SNOMEDCT_US:39662004") AnnotationAssertion( "SNOMEDCT_US:419395007") AnnotationAssertion( "UMLS:C0271287") @@ -83397,7 +82128,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Granular corneal dystrophy) AnnotationAssertion(Annotation( ) "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.") -AnnotationAssertion( "MSH:D003317") AnnotationAssertion( "SNOMEDCT_US:45283008") AnnotationAssertion( "UMLS:C0018179") AnnotationAssertion( "HP:0007802") @@ -83408,8 +82138,6 @@ SubClassOf( ) "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.") AnnotationAssertion( "HP:0007954") -AnnotationAssertion( "MSH:C536128") -AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:56852002") AnnotationAssertion( "UMLS:C0152200") AnnotationAssertion( "UMLS:C1857618") @@ -83688,7 +82416,6 @@ SubClassOf( (Retinal vascular proliferation) -AnnotationAssertion( "MSH:D015861") AnnotationAssertion( "SNOMEDCT_US:61267008") AnnotationAssertion( "UMLS:C0035320") AnnotationAssertion( "HP:0007850") @@ -83845,7 +82572,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Allergic conjunctivitis) AnnotationAssertion(Annotation( ) "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.") -AnnotationAssertion( "MSH:D003233") AnnotationAssertion( "SNOMEDCT_US:231854006") AnnotationAssertion( "SNOMEDCT_US:473460002") AnnotationAssertion( "UMLS:C0009766") @@ -83933,7 +82659,6 @@ SubClassOf( (Exudative retinopathy) -AnnotationAssertion( "MSH:D058456") AnnotationAssertion( "SNOMEDCT_US:25506007") AnnotationAssertion( "SNOMEDCT_US:360455002") AnnotationAssertion( "UMLS:C0154832") @@ -83970,7 +82695,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Vitreous hemorrhage) AnnotationAssertion(Annotation( ) Annotation( "PMID:16882398") "Bleeding within the vitreous compartment of the eye.") -AnnotationAssertion( "MSH:D014823") AnnotationAssertion( "SNOMEDCT_US:31341008") AnnotationAssertion( "UMLS:C0042909") AnnotationAssertion(Annotation( ) "Vitreous haemorrhage") @@ -84047,7 +82771,6 @@ SubClassOf( (Polymorphous posterior corneal dystrophy) AnnotationAssertion(Annotation( ) "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.") -AnnotationAssertion( "MSH:C562745") AnnotationAssertion( "SNOMEDCT_US:29504002") AnnotationAssertion( "UMLS:C0339284") AnnotationAssertion( "HP:0007915") @@ -84194,7 +82917,6 @@ SubClassOf( (Blue cone monochromacy) AnnotationAssertion(Annotation( ) "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.") -AnnotationAssertion( "MSH:C536238") AnnotationAssertion( "SNOMEDCT_US:24704003") AnnotationAssertion( "UMLS:C0339537") AnnotationAssertion( "Blue cone monochromatism") @@ -84216,7 +82938,6 @@ SubClassOf( (Internal ophthalmoplegia) AnnotationAssertion(Annotation( ) "Paralysis of the iris and ciliary apparatus.") -AnnotationAssertion( "MSH:D009886") AnnotationAssertion( "SNOMEDCT_US:232146005") AnnotationAssertion( "UMLS:C0339693") AnnotationAssertion( "HP:0007942") @@ -84261,7 +82982,6 @@ SubClassOf( (Pericentral retinitis pigmentosa) AnnotationAssertion(Annotation( ) Annotation( "PMID:28981474") "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.") -AnnotationAssertion( "MSH:C564838") AnnotationAssertion( "UMLS:C1849398") AnnotationAssertion( "HP:0007947") AnnotationAssertion(rdfs:label "Pericentral retinitis pigmentosa") @@ -84302,7 +83022,6 @@ AnnotationAssertion(Annotation( "HP:0007844") AnnotationAssertion( "HP:0007883") AnnotationAssertion( "HP:0008502") -AnnotationAssertion( "MSH:D003318") AnnotationAssertion( "SNOMEDCT_US:413921009") AnnotationAssertion( "SNOMEDCT_US:64634000") AnnotationAssertion( "SNOMEDCT_US:95735008") @@ -84368,7 +83087,6 @@ SubClassOf( (Remnants of the hyaloid vascular system) AnnotationAssertion(Annotation( ) "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.") -AnnotationAssertion( "MSH:D054514") AnnotationAssertion( "SNOMEDCT_US:314270008") AnnotationAssertion( "SNOMEDCT_US:44647001") AnnotationAssertion( "SNOMEDCT_US:69927002") @@ -84413,7 +83131,6 @@ SubClassOf( ) "The presence of developmental dysplasia of the retina.") AnnotationAssertion( "HP:0007901") AnnotationAssertion( "HP:0008022") -AnnotationAssertion( "MSH:D015792") AnnotationAssertion( "SNOMEDCT_US:95494009") AnnotationAssertion( "UMLS:C0035313") AnnotationAssertion( "Retinal dysgenesis") @@ -84435,7 +83152,6 @@ SubClassOf( (Cerulean cataract) AnnotationAssertion(Annotation( ) Annotation( "PMID:19496508") Annotation( "PMID:9158139") "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.") -AnnotationAssertion( "MSH:C537955") AnnotationAssertion( "SNOMEDCT_US:204138006") AnnotationAssertion( "UMLS:C0344523") AnnotationAssertion( "Cataracts, congenital, cerulean") @@ -84580,7 +83296,6 @@ SubClassOf( (Decreased corneal reflex) AnnotationAssertion(Annotation( ) "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.") -AnnotationAssertion( "MSH:D012021") AnnotationAssertion( "SNOMEDCT_US:103254005") AnnotationAssertion( "UMLS:C0151572") AnnotationAssertion( "Decreased blink reflex") @@ -85076,7 +83791,6 @@ AnnotationAssertion( AnnotationAssertion( "HP:0000955") AnnotationAssertion( "HP:0007547") AnnotationAssertion(Annotation(rdfs:label "Ichthyosis") "MEDDRA:10021198") -AnnotationAssertion( "MSH:D007057") AnnotationAssertion( "UMLS:C0020757") AnnotationAssertion( "Ichthyosiform abnormality of the skin") AnnotationAssertion( "Ichthyotic skin") @@ -85140,7 +83854,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-02T04:01:00Z") AnnotationAssertion(Annotation( ) "Skin cancer (non-melanoma)") -AnnotationAssertion( "MSH:D012878") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126488004") AnnotationAssertion( "SNOMEDCT_US:372130007") @@ -85174,7 +83887,6 @@ AnnotationAssertion( "HP:0004538") AnnotationAssertion( "HP:0004874") AnnotationAssertion( "MEDDRA:10021126") -AnnotationAssertion( "MSH:D007039") AnnotationAssertion( "SNOMEDCT_US:53602002") AnnotationAssertion( "SNOMEDCT_US:56558005") AnnotationAssertion( "UMLS:C0020678") @@ -85267,7 +83979,6 @@ SubClassOf( (Hallux varus) AnnotationAssertion(Annotation( ) "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.") -AnnotationAssertion( "MSH:D050488") AnnotationAssertion( "SNOMEDCT_US:274147008") AnnotationAssertion( "UMLS:C0546297") AnnotationAssertion( "Hitchhiker hallux") @@ -85423,7 +84134,6 @@ SubClassOf( (Equinovarus deformity) -AnnotationAssertion( "MSH:D003025") AnnotationAssertion( "SNOMEDCT_US:249808002") AnnotationAssertion( "SNOMEDCT_US:397932003") AnnotationAssertion( "UMLS:C0009081") @@ -85516,7 +84226,6 @@ SubClassOf( (Talipes calcaneovarus) AnnotationAssertion(Annotation( ) "A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.") -AnnotationAssertion( "MSH:D000070558") AnnotationAssertion( "SNOMEDCT_US:30449003") AnnotationAssertion( "UMLS:C0265646") AnnotationAssertion( "HP:0008124") @@ -85688,7 +84397,6 @@ SubClassOf( (Hyperapobetalipoproteinemia) AnnotationAssertion(Annotation( ) Annotation( "PMID:6579550") "Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.") -AnnotationAssertion( "MSH:D006950") AnnotationAssertion( "SNOMEDCT_US:238040008") AnnotationAssertion( "SNOMEDCT_US:299465007") AnnotationAssertion( "UMLS:C0020474") @@ -85763,7 +84471,6 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.") AnnotationAssertion( "HP:0003644") AnnotationAssertion( "HP:0008300") -AnnotationAssertion( "MSH:D016537") AnnotationAssertion( "SNOMEDCT_US:238025006") AnnotationAssertion( "UMLS:C0085131") AnnotationAssertion( "UMLS:C1854788") @@ -85786,7 +84493,6 @@ SubClassOf( (Reduced factor VII activity) AnnotationAssertion(Annotation( ) "Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.") -AnnotationAssertion( "MSH:D005168") AnnotationAssertion( "SNOMEDCT_US:37193007") AnnotationAssertion( "UMLS:C0015503") AnnotationAssertion( "UMLS:C4024722") @@ -85842,7 +84548,6 @@ SubClassOf( (Abetalipoproteinemia) AnnotationAssertion(Annotation( ) "An absence of low-density lipoprotein cholesterol in the blood.") -AnnotationAssertion( "MSH:D000012") AnnotationAssertion( "SNOMEDCT_US:190787008") AnnotationAssertion( "UMLS:C0000744") AnnotationAssertion( "HP:0008181") @@ -85892,7 +84597,6 @@ SubClassOf( (Thyroid dysgenesis) -AnnotationAssertion( "MSH:D050033") AnnotationAssertion( "UMLS:C1563716") AnnotationAssertion( "Thyroid dysplasia") AnnotationAssertion( "HP:0008188") @@ -85912,7 +84616,6 @@ SubClassOf( (Thyroid agenesis) AnnotationAssertion(Annotation( ) Annotation( "PMID:2918525") "The congenital absence of the thyroid gland.") -AnnotationAssertion( "MSH:D050033") AnnotationAssertion( "UMLS:C0749420") AnnotationAssertion( "UMLS:C4020805") AnnotationAssertion( "Athyroidal hypothyroidism") @@ -85960,7 +84663,6 @@ SubClassOf( ) "A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.") AnnotationAssertion( "HP:0008254") -AnnotationAssertion( "MSH:D049950") AnnotationAssertion( "SNOMEDCT_US:36348003") AnnotationAssertion( "UMLS:C0221002") AnnotationAssertion( "HP:0008200") @@ -85970,7 +84672,6 @@ SubClassOf( (Reduced circulating prolactin concentration) AnnotationAssertion(Annotation( ) Annotation( ) Annotation( "PMID:23378139") "A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.") -AnnotationAssertion( "MSH:C562708") AnnotationAssertion( "SNOMEDCT_US:67873006") AnnotationAssertion( "UMLS:C0271586") AnnotationAssertion( "Prolactin deficiency") @@ -86001,7 +84702,6 @@ AnnotationAssertion(Annotation( "HP:0000862") AnnotationAssertion( "HP:0008219") AnnotationAssertion( "HP:0008252") -AnnotationAssertion( "MSH:D000224") AnnotationAssertion( "SNOMEDCT_US:363732003") AnnotationAssertion( "SNOMEDCT_US:373662000") AnnotationAssertion( "SNOMEDCT_US:386584007") @@ -86033,8 +84733,6 @@ SubClassOf( ) "Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.") AnnotationAssertion( "HP:0001587") AnnotationAssertion( "HP:0100805") -AnnotationAssertion( "MSH:D008594") -AnnotationAssertion( "MSH:D016649") AnnotationAssertion( "SNOMEDCT_US:373717006") AnnotationAssertion( "UMLS:C0025322") AnnotationAssertion( "UMLS:C0085215") @@ -86053,7 +84751,6 @@ SubClassOf( (Parathyroid agenesis) AnnotationAssertion(Annotation( ) "Aplasia of the parathyroid gland.") -AnnotationAssertion( "MSH:C563238") AnnotationAssertion( "SNOMEDCT_US:73291005") AnnotationAssertion( "UMLS:C1321907") AnnotationAssertion( "Parathyroid absence") @@ -86067,7 +84764,6 @@ SubClassOf( ) "A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).") AnnotationAssertion( "HP:0008192") -AnnotationAssertion( "MSH:D007006") AnnotationAssertion( "SNOMEDCT_US:33927004") AnnotationAssertion( "UMLS:C0271623") AnnotationAssertion( "Pituitary gonadotropin deficiency") @@ -86110,7 +84806,6 @@ SubClassOf( (Female infertility) -AnnotationAssertion( "MSH:D007247") AnnotationAssertion( "SNOMEDCT_US:6738008") AnnotationAssertion( "UMLS:C0021361") AnnotationAssertion(Annotation( ) "Female infertility") @@ -86254,7 +84949,6 @@ SubClassOf( ) "A state of renal tubular unresponsiveness or resistance to the action of aldosterone.") AnnotationAssertion( "HP:0008228") -AnnotationAssertion( "MSH:D011546") AnnotationAssertion( "SNOMEDCT_US:77098009") AnnotationAssertion( "UMLS:C0033805") AnnotationAssertion( "HP:0008242") @@ -86340,7 +85034,6 @@ SubClassOf( ) Annotation( "PMID:17287480") "Adrenocortical adenomas are benign tumors of the adrenal cortex.") AnnotationAssertion( "HP:0008196") -AnnotationAssertion( "MSH:D018246") AnnotationAssertion( "SNOMEDCT_US:18365006") AnnotationAssertion( "SNOMEDCT_US:255036008") AnnotationAssertion( "SNOMEDCT_US:302826002") @@ -86353,7 +85046,6 @@ SubClassOf( (Congenital adrenal hyperplasia) AnnotationAssertion(Annotation( ) "A type of adrenal hyperplasia with congenital onset.") -AnnotationAssertion( "MSH:D000312") AnnotationAssertion( "SNOMEDCT_US:237751000") AnnotationAssertion( "UMLS:C0001627") AnnotationAssertion( "HP:0008258") @@ -86513,7 +85205,6 @@ SubClassOf( (Nonketotic hyperglycinemia) -AnnotationAssertion( "MSH:D020158") AnnotationAssertion( "SNOMEDCT_US:237939006") AnnotationAssertion( "UMLS:C0751748") AnnotationAssertion( "HP:0008288") @@ -86531,7 +85222,6 @@ SubClassOf( (Pituitary corticotropic cell adenoma) AnnotationAssertion(Annotation( ) Annotation( ) "A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).") -AnnotationAssertion( "MSH:D049913") AnnotationAssertion( "SNOMEDCT_US:21109002") AnnotationAssertion( "SNOMEDCT_US:254958004") AnnotationAssertion( "UMLS:C1306214") @@ -86665,7 +85355,6 @@ SubClassOf( (Reduced factor X activity) AnnotationAssertion(Annotation( ) "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).") -AnnotationAssertion( "MSH:D005171") AnnotationAssertion( "SNOMEDCT_US:76642003") AnnotationAssertion( "UMLS:C0015519") AnnotationAssertion( "UMLS:C4024702") @@ -86699,7 +85388,6 @@ SubClassOf( (Reduced circulating vitamin B6 circulating) AnnotationAssertion( "An abnormally decreased concentration of vitamin B6 in the blood circulation.") -AnnotationAssertion( "MSH:D026681") AnnotationAssertion( "SNOMEDCT_US:386080007") AnnotationAssertion( "UMLS:C0936215") AnnotationAssertion( "Reduced circulating vitamin B6 level") @@ -86749,7 +85437,6 @@ SubClassOf( (obsolete Renal aminoaciduria) AnnotationAssertion( "HP:0003355") -AnnotationAssertion( "MSH:D000608") AnnotationAssertion( "UMLS:C0002534") AnnotationAssertion( "HP:0008335") AnnotationAssertion(rdfs:label "obsolete Renal aminoaciduria") @@ -86784,7 +85471,6 @@ SubClassOf( (Distal renal tubular acidosis) AnnotationAssertion(Annotation( ) "A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.") -AnnotationAssertion( "MSH:D000141") AnnotationAssertion( "SNOMEDCT_US:236461000") AnnotationAssertion( "SNOMEDCT_US:86210009") AnnotationAssertion( "UMLS:C1704380") @@ -86993,7 +85679,6 @@ AnnotationAssertion( "HP:0001957") AnnotationAssertion( "HP:0008092") AnnotationAssertion( "HP:0100330") -AnnotationAssertion( "MSH:D000070604") AnnotationAssertion( "SNOMEDCT_US:27173008") AnnotationAssertion( "UMLS:C0265654") AnnotationAssertion(Annotation( ) Annotation( ) "Fused ankle bones") @@ -87301,7 +85986,6 @@ SubClassOf( (Intervertebral disk degeneration) AnnotationAssertion(Annotation( ) "The presence of degenerative changes of intervertebral disk.") -AnnotationAssertion( "MSH:D055959") AnnotationAssertion( "SNOMEDCT_US:77547008") AnnotationAssertion( "UMLS:C0158266") AnnotationAssertion(Annotation( ) "Degeneration of intervertebral discs") @@ -87480,7 +86164,6 @@ SubClassOf( ) "The presence of one or more herniated nucleus pulposus of intervertebral disk.") AnnotationAssertion(Annotation( ) "Herniated disc") AnnotationAssertion(Annotation( ) Annotation( ) "Herniated disk") -AnnotationAssertion( "MSH:D007405") AnnotationAssertion( "SNOMEDCT_US:73589001") AnnotationAssertion( "UMLS:C0021818") AnnotationAssertion( "UMLS:C1832597") @@ -87639,7 +86322,6 @@ SubClassOf( (Cervical vertebral agenesis) AnnotationAssertion(Annotation( ) "Agenesis of one or more vertebrae of the cervical vertebral column.") -AnnotationAssertion( "MSH:C562952") AnnotationAssertion( "SNOMEDCT_US:91880006") AnnotationAssertion( "UMLS:C0432160") AnnotationAssertion( "Cervical vertebrae agenesis") @@ -87723,7 +86405,6 @@ SubClassOf( (Cervical vertebral dysplasia) AnnotationAssertion(Annotation( ) "Dysplasia of the cervical vertebral column.") -AnnotationAssertion( "MSH:C566140") AnnotationAssertion( "UMLS:C1861693") AnnotationAssertion( "HP:0008469") AnnotationAssertion(rdfs:label "Cervical vertebral dysplasia") @@ -87814,7 +86495,6 @@ SubClassOf( ) "Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.") AnnotationAssertion( "HP:0025266") -AnnotationAssertion( "MSH:D055009") AnnotationAssertion( "SNOMEDCT_US:387800004") AnnotationAssertion( "SNOMEDCT_US:387801000") AnnotationAssertion( "UMLS:C0263854") @@ -88180,7 +86860,6 @@ AnnotationAssertion( "HP:0008550") AnnotationAssertion( "HP:0008618") AnnotationAssertion( "HP:0008621") -AnnotationAssertion( "MSH:D065817") AnnotationAssertion( "SNOMEDCT_US:35045004") AnnotationAssertion( "UMLS:C0152423") AnnotationAssertion( "Bilateral microtia") @@ -88490,7 +87169,6 @@ SubClassOf( "PMID:23885280") "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.") AnnotationAssertion( "HP:0000361") -AnnotationAssertion( "MSH:D014012") AnnotationAssertion( "SNOMEDCT_US:232322006") AnnotationAssertion( "UMLS:C0751559") AnnotationAssertion( "HP:0008629") @@ -88645,7 +87323,6 @@ SubClassOf( (Renotubular dysgenesis) AnnotationAssertion(Annotation( ) "A developmental defect characterized by absence or poor development of proximal renal tubules.") -AnnotationAssertion( "MSH:C537048") AnnotationAssertion( "SNOMEDCT_US:702397002") AnnotationAssertion( "UMLS:C0266313") AnnotationAssertion( "Renal tubular dysgenesis") @@ -88657,7 +87334,6 @@ SubClassOf( (Urethral stenosis) AnnotationAssertion(Annotation( ) "Abnormal narrowing of the urethra.") -AnnotationAssertion( "MSH:D014525") AnnotationAssertion( "SNOMEDCT_US:236647003") AnnotationAssertion( "SNOMEDCT_US:76618002") AnnotationAssertion( "UMLS:C0041974") @@ -88713,7 +87389,6 @@ SubClassOf( (Gonadal dysgenesis, male) AnnotationAssertion(Annotation( ) "Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.") -AnnotationAssertion( "MSH:D006061") AnnotationAssertion( "UMLS:C0018054") AnnotationAssertion( "46,xy gonadal dysgenesis") AnnotationAssertion( "HP:0008668") @@ -88745,7 +87420,6 @@ SubClassOf( ) "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.") AnnotationAssertion( "HP:0008700") AnnotationAssertion( "HP:0008725") -AnnotationAssertion( "MSH:C563477") AnnotationAssertion( "SNOMEDCT_US:444717006") AnnotationAssertion( "UMLS:C1833683") AnnotationAssertion( "UMLS:C4280806") @@ -88786,7 +87460,6 @@ SubClassOf( (Congenital nephrotic syndrome) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:Eurenomics_fschaefer") "Nephrotic syndrome with onset within the first three months of life.") -AnnotationAssertion( "MSH:C535761") AnnotationAssertion( "SNOMEDCT_US:48796009") AnnotationAssertion( "UMLS:C3501848") AnnotationAssertion( "Congenital nephrosis") @@ -88812,7 +87485,6 @@ SubClassOf( (Renal tubular epithelial necrosis) AnnotationAssertion(Annotation( ) "Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).") -AnnotationAssertion( "MSH:D007683") AnnotationAssertion( "SNOMEDCT_US:35455006") AnnotationAssertion( "UMLS:C0022672") AnnotationAssertion( "Acute tubular necrosis") @@ -88863,7 +87535,6 @@ SubClassOf( ) "Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.") AnnotationAssertion( "HP:0008686") -AnnotationAssertion( "MSH:D003456") AnnotationAssertion( "SNOMEDCT_US:268228006") AnnotationAssertion( "UMLS:C0431663") AnnotationAssertion( "Cryptorchidism, bilateral") @@ -88969,7 +87640,6 @@ SubClassOf( (Benign prostatic hyperplasia) AnnotationAssertion(Annotation( ) "The presence of non-malignant hyperplasia of the prostate.") -AnnotationAssertion( "MSH:D011470") AnnotationAssertion( "SNOMEDCT_US:266569009") AnnotationAssertion( "UMLS:C0005001") AnnotationAssertion( "UMLS:C1704272") @@ -89243,7 +87913,6 @@ SubClassOf( (Laryngeal cleft) AnnotationAssertion(Annotation( ) Annotation( "PMID:17178945") "Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.") -AnnotationAssertion( "MSH:C537875") AnnotationAssertion( "SNOMEDCT_US:232461002") AnnotationAssertion( "UMLS:C1840311") AnnotationAssertion( "Laryngotracheal cleft") @@ -89308,7 +87977,6 @@ SubClassOf( (Unilateral vocal cord paralysis) AnnotationAssertion(Annotation( ) "A loss of the ability to move the vocal fold on one side.") -AnnotationAssertion( "MSH:D014826") AnnotationAssertion( "UMLS:C0751575") AnnotationAssertion( "Unilateral paralysis of the vocal cord") AnnotationAssertion( "HP:0008757") @@ -89370,7 +88038,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "HP:0000714") -AnnotationAssertion( "MSH:D006212") AnnotationAssertion( "SNOMEDCT_US:45150006") AnnotationAssertion( "UMLS:C0233762") AnnotationAssertion(Annotation( ) Annotation( ) "Hallucinations of sound") @@ -89702,7 +88369,6 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:23764788") Annotation( "PMID:34377520") "A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.") AnnotationAssertion( "HP:0008799") -AnnotationAssertion( "MSH:D006617") AnnotationAssertion( "UMLS:C1328407") AnnotationAssertion( "Dysplastic acetabulae") AnnotationAssertion( "HP:0008807") @@ -89905,7 +88571,6 @@ SubClassOf( (Hip osteoarthritis) AnnotationAssertion( "HP:0008809") -AnnotationAssertion( "MSH:D015207") AnnotationAssertion( "SNOMEDCT_US:239872002") AnnotationAssertion( "UMLS:C0029410") AnnotationAssertion( "Osteoarthritis of hip") @@ -90413,7 +89078,6 @@ SubClassOf( (Scapulohumeral muscular dystrophy) -AnnotationAssertion( "MSH:C562932") AnnotationAssertion( "SNOMEDCT_US:240074006") AnnotationAssertion( "UMLS:C0410192") AnnotationAssertion( "HP:0008970") @@ -90634,7 +89298,6 @@ SubClassOf( (Congenital absence of gluteal muscles) -AnnotationAssertion( "MSH:C535561") AnnotationAssertion( "UMLS:C2930932") AnnotationAssertion( "HP:0009013") AnnotationAssertion(rdfs:label "Congenital absence of gluteal muscles") @@ -90753,7 +89416,6 @@ SubClassOf( (Segmental spinal muscular atrophy) -AnnotationAssertion( "MSH:C566670") AnnotationAssertion( "UMLS:C1866774") AnnotationAssertion( "HP:0009037") AnnotationAssertion(rdfs:label "Segmental spinal muscular atrophy") @@ -90842,7 +89504,6 @@ SubClassOf( (Scapuloperoneal myopathy) -AnnotationAssertion( "MSH:C536624") AnnotationAssertion( "UMLS:C2931268") AnnotationAssertion( "HP:0009054") AnnotationAssertion(rdfs:label "Scapuloperoneal myopathy") @@ -90894,7 +89555,6 @@ SubClassOf( (Congenital generalized lipodystrophy) -AnnotationAssertion( "MSH:D052497") AnnotationAssertion( "SNOMEDCT_US:284449005") AnnotationAssertion( "SNOMEDCT_US:86907008") AnnotationAssertion( "UMLS:C0221032") @@ -90940,7 +89600,6 @@ SubClassOf( ) "Generalized degenerative changes of the fat tissue.") AnnotationAssertion( "HP:0008966") -AnnotationAssertion( "MSH:D052497") AnnotationAssertion( "SNOMEDCT_US:284449005") AnnotationAssertion( "SNOMEDCT_US:86907008") AnnotationAssertion( "UMLS:C0221032") @@ -90964,7 +89623,6 @@ SubClassOf( (Lethal infantile mitochondrial myopathy) -AnnotationAssertion( "MSH:C564017") AnnotationAssertion( "UMLS:C1838876") AnnotationAssertion( "HP:0009069") AnnotationAssertion(rdfs:label "Lethal infantile mitochondrial myopathy") @@ -90973,7 +89631,6 @@ SubClassOf( (Inflammatory myopathy) AnnotationAssertion(Annotation( "PMID:19349710") "Chronic muscle inflammation accompanied by muscle weakness.") -AnnotationAssertion( "MSH:D009220") AnnotationAssertion( "SNOMEDCT_US:128496001") AnnotationAssertion( "SNOMEDCT_US:26889001") AnnotationAssertion( "UMLS:C0027121") @@ -91268,7 +89925,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2008-04-05T10:42:00Z") AnnotationAssertion( "HP:0009114") -AnnotationAssertion( "MSH:D003965") AnnotationAssertion( "SNOMEDCT_US:34168003") AnnotationAssertion( "UMLS:C0011981") AnnotationAssertion( "Eventration of the diaphragm") @@ -91351,7 +90007,6 @@ SubClassOf( ) "Absence or underdevelopment of the mandible.") AnnotationAssertion( "2008-04-05T10:57:00Z") -AnnotationAssertion( "MSH:D063173") AnnotationAssertion( "UMLS:C3494426") AnnotationAssertion( "UMLS:C4021371") AnnotationAssertion( "UMLS:C4024589") @@ -91441,7 +90096,6 @@ SubClassOf( ) "Degenerative changes of the fat tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2008-04-05T11:40:00Z") -AnnotationAssertion( "MSH:D008060") AnnotationAssertion( "SNOMEDCT_US:71325002") AnnotationAssertion( "UMLS:C0023787") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Inability to make and keep healthy fat tissue") @@ -94722,7 +93376,6 @@ SubClassOf( ) AnnotationAssertion( "2009-01-13T10:50:19Z") -AnnotationAssertion( "MSH:C537088") AnnotationAssertion( "SNOMEDCT_US:715720006") AnnotationAssertion( "UMLS:C1862151") AnnotationAssertion( "HP:0009371") @@ -94733,7 +93386,6 @@ SubClassOf( ) AnnotationAssertion( "2009-01-13T10:50:19Z") -AnnotationAssertion( "MSH:C537089") AnnotationAssertion( "UMLS:C1832702") AnnotationAssertion(Annotation( ) Annotation( ) "Short index fingers and second toes") AnnotationAssertion( "HP:0009372") @@ -94744,7 +93396,6 @@ SubClassOf( ) AnnotationAssertion( "2009-01-13T10:50:19Z") -AnnotationAssertion( "MSH:C537093") AnnotationAssertion( "UMLS:C1862103") AnnotationAssertion( "HP:0009373") AnnotationAssertion(rdfs:label "Type C brachydactyly") @@ -97683,7 +96334,6 @@ SubClassOf( ) "A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-28T10:37:32Z") -AnnotationAssertion( "MSH:D009464") AnnotationAssertion( "NCIT:C3269") AnnotationAssertion( "SNOMEDCT_US:126949007") AnnotationAssertion( "SNOMEDCT_US:985004") @@ -97706,7 +96356,6 @@ SubClassOf( ) "A bilateral vestibular schwannoma (acoustic neurinoma).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-28T10:39:14Z") -AnnotationAssertion( "MSH:D016518") AnnotationAssertion( "UMLS:C1136042") AnnotationAssertion( "Bilateral acoustic neuromas") AnnotationAssertion( "HP:0009589") @@ -97742,7 +96391,6 @@ SubClassOf( ) "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-28T10:51:01Z") -AnnotationAssertion( "MSH:D001254") AnnotationAssertion( "SNOMEDCT_US:38713004") AnnotationAssertion( "UMLS:C0004114") AnnotationAssertion( "HP:0009592") @@ -97870,7 +96518,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-29T01:08:24Z") AnnotationAssertion( "HP:0002950") AnnotationAssertion( "HP:0006225") -AnnotationAssertion( "MSH:C536903") AnnotationAssertion( "UMLS:C3179508") AnnotationAssertion( "Absent or hypoplastic thumbs") AnnotationAssertion( "Absent/hypoplastic thumb") @@ -99377,7 +98024,6 @@ SubClassOf( ) "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T12:07:02Z") -AnnotationAssertion( "MSH:D001254") AnnotationAssertion( "SNOMEDCT_US:1586004") AnnotationAssertion( "SNOMEDCT_US:449799008") AnnotationAssertion( "UMLS:C0205768") @@ -99403,7 +98049,6 @@ SubClassOf( ) "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T12:19:37Z") -AnnotationAssertion( "MSH:D014402") AnnotationAssertion( "SNOMEDCT_US:36025004") AnnotationAssertion( "SNOMEDCT_US:78424008") AnnotationAssertion( "UMLS:C0265319") @@ -99474,7 +98119,6 @@ SubClassOf( ) "The presence of a neoplasm of the urinary bladder.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T10:43:55Z") -AnnotationAssertion( "MSH:D001749") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126885006") AnnotationAssertion( "UMLS:C0005695") @@ -99492,7 +98136,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-01-31T10:41:48Z") AnnotationAssertion( "HP:0005933") AnnotationAssertion(Annotation( ) "Kidney cancer") -AnnotationAssertion( "MSH:D007680") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126880001") AnnotationAssertion( "UMLS:C0022665") @@ -99548,7 +98191,6 @@ SubClassOf( ) "A benign tumor of striated muscle.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T10:54:01Z") -AnnotationAssertion( "MSH:D012207") AnnotationAssertion( "NCIT:C3358") AnnotationAssertion( "SNOMEDCT_US:302846007") AnnotationAssertion( "SNOMEDCT_US:402877008") @@ -99577,7 +98219,6 @@ SubClassOf( ) "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T11:12:32Z") -AnnotationAssertion( "MSH:D018318") AnnotationAssertion( "SNOMEDCT_US:403818001") AnnotationAssertion( "SNOMEDCT_US:41252002") AnnotationAssertion( "UMLS:C0206728") @@ -99590,7 +98231,6 @@ SubClassOf( ) "The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T11:15:22Z") -AnnotationAssertion( "MSH:D005910") AnnotationAssertion( "NCIT:C3059") AnnotationAssertion( "SNOMEDCT_US:115240006") AnnotationAssertion( "SNOMEDCT_US:393564001") @@ -99608,7 +98248,6 @@ SubClassOf( ) "A glioma originating in the optic nerve or optic chiasm.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T11:17:13Z") -AnnotationAssertion( "MSH:D020339") AnnotationAssertion( "SNOMEDCT_US:254976006") AnnotationAssertion( "SNOMEDCT_US:404662003") AnnotationAssertion( "UMLS:C0346326") @@ -99708,7 +98347,6 @@ SubClassOf( ) "Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T01:15:08Z") -AnnotationAssertion( "MSH:D009400") AnnotationAssertion( "SNOMEDCT_US:32916005") AnnotationAssertion( "UMLS:C0027719") AnnotationAssertion(Annotation( ) Annotation( ) "Scarring of kidney arteries") @@ -99865,7 +98503,6 @@ SubClassOf( "PMID:18125427") "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T08:52:59Z") -AnnotationAssertion( "MSH:C536373") AnnotationAssertion( "SNOMEDCT_US:193953008") AnnotationAssertion( "SNOMEDCT_US:400952003") AnnotationAssertion( "UMLS:C0339182") @@ -99929,7 +98566,6 @@ SubClassOf( ) "Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-01-31T10:12:24Z") -AnnotationAssertion( "MSH:C566738") AnnotationAssertion( "UMLS:C1867439") AnnotationAssertion( "Pterygium cubitale") AnnotationAssertion( "Webbed elbow") @@ -100063,7 +98699,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-02T11:38:04Z") AnnotationAssertion( "HP:0001179") -AnnotationAssertion( "MSH:D030981") AnnotationAssertion( "SNOMEDCT_US:27201004") AnnotationAssertion( "SNOMEDCT_US:63122002") AnnotationAssertion( "UMLS:C0917990") @@ -100128,8 +98763,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-02T05:36:41Z") AnnotationAssertion( "HP:0001078") -AnnotationAssertion( "MSH:C535821") -AnnotationAssertion( "MSH:D000652") AnnotationAssertion( "SNOMEDCT_US:19988008") AnnotationAssertion( "SNOMEDCT_US:238879003") AnnotationAssertion( "UMLS:C0334166") @@ -100192,7 +98825,6 @@ AnnotationAssertion( "HP:0005699") AnnotationAssertion( "HP:0006151") AnnotationAssertion( "HP:0009628") -AnnotationAssertion( "MSH:C536903") AnnotationAssertion( "SNOMEDCT_US:253936008") AnnotationAssertion( "UMLS:C0431890") AnnotationAssertion( "Hypoplastic thumb") @@ -100375,7 +99007,6 @@ SubClassOf( ) "The presence of a teratoma.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-02-03T05:23:03Z") -AnnotationAssertion( "MSH:D013724") AnnotationAssertion( "NCIT:C3403") AnnotationAssertion( "SNOMEDCT_US:55818009") AnnotationAssertion( "UMLS:C0039538") @@ -100433,7 +99064,6 @@ SubClassOf( ) "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-02-11T05:18:08Z") -AnnotationAssertion( "MSH:D001935") AnnotationAssertion( "SNOMEDCT_US:42362005") AnnotationAssertion( "SNOMEDCT_US:59857007") AnnotationAssertion( "UMLS:C0006131") @@ -100449,7 +99079,6 @@ SubClassOf( ) "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-02-11T05:20:04Z") -AnnotationAssertion( "MSH:D002781") AnnotationAssertion( "SNOMEDCT_US:363668000") AnnotationAssertion( "SNOMEDCT_US:575006") AnnotationAssertion( "UMLS:C0008373") @@ -100463,7 +99092,6 @@ SubClassOf( ) "A goiter that is not associated with functional thyroid abnormalities.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-02-11T05:21:23Z") -AnnotationAssertion( "MSH:C562732") AnnotationAssertion( "SNOMEDCT_US:32251000119106") AnnotationAssertion( "UMLS:C0302859") AnnotationAssertion(Annotation( ) "Euthyroid goitre") @@ -100489,7 +99117,6 @@ SubClassOf( ) "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-02-12T05:44:58Z") -AnnotationAssertion( "MSH:D016640") AnnotationAssertion( "SNOMEDCT_US:11687002") AnnotationAssertion( "UMLS:C0085207") AnnotationAssertion( "UMLS:C4020778") @@ -100573,7 +99200,6 @@ SubClassOf( ) "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-02-16T11:23:28Z") -AnnotationAssertion( "MSH:D018500") AnnotationAssertion( "SNOMEDCT_US:111395007") AnnotationAssertion( "UMLS:C0162283") AnnotationAssertion( "HP:0009806") @@ -100863,7 +99489,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-02-23T05:17:25Z") AnnotationAssertion(Annotation(rdfs:label "Amelia") "MEDDRA:10001926") -AnnotationAssertion( "MSH:D004480") AnnotationAssertion( "SNOMEDCT_US:62588002") AnnotationAssertion( "UMLS:C0002447") AnnotationAssertion( "HP:0009827") @@ -100889,7 +99514,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-02-23T05:17:25Z") AnnotationAssertion( "HP:0002994") AnnotationAssertion(Annotation(rdfs:label "Phocomelia") "MEDDRA:10034923") -AnnotationAssertion( "MSH:D004480") AnnotationAssertion( "SNOMEDCT_US:22841008") AnnotationAssertion( "UMLS:C0031575") AnnotationAssertion( "HP:0009829") @@ -100908,7 +99532,6 @@ AnnotationAssertion( "HP:0007088") AnnotationAssertion( "HP:0007235") AnnotationAssertion( "HP:0007355") -AnnotationAssertion( "MSH:D010523") AnnotationAssertion( "SNOMEDCT_US:302226006") AnnotationAssertion( "SNOMEDCT_US:386033004") AnnotationAssertion( "SNOMEDCT_US:42658009") @@ -100928,7 +99551,6 @@ SubClassOf( ) "A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-03-01T08:27:29Z") -AnnotationAssertion( "MSH:D020422") AnnotationAssertion( "SNOMEDCT_US:128189008") AnnotationAssertion( "UMLS:C0494491") AnnotationAssertion(Annotation( ) Annotation( ) "Single damaged nerve") @@ -101540,7 +100162,6 @@ SubClassOf( ) Annotation( "PMID:19125421") "Complete absence of any auricular structures.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-04-30T06:53:41Z") -AnnotationAssertion( "MSH:D065817") AnnotationAssertion( "SNOMEDCT_US:57436000") AnnotationAssertion( "UMLS:C0702139") AnnotationAssertion( "UMLS:C1408788") @@ -101657,7 +100278,6 @@ SubClassOf( ) "A unilateral absence of sensory perception of sound.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-04-30T10:42:23Z") -AnnotationAssertion( "MSH:D046088") AnnotationAssertion( "SNOMEDCT_US:162342008") AnnotationAssertion( "UMLS:C2607947") AnnotationAssertion(Annotation( ) Annotation( ) "Deafness in one ear") @@ -101852,7 +100472,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_ncarter") "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-05-01T03:52:15Z") -AnnotationAssertion( "MSH:C562573") AnnotationAssertion( "SNOMEDCT_US:205798005") AnnotationAssertion( "UMLS:C0266667") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Cyclops eye") @@ -101880,7 +100499,6 @@ SubClassOf( ) "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-05-02T05:46:50Z") -AnnotationAssertion( "MSH:D015875") AnnotationAssertion( "SNOMEDCT_US:13045009") AnnotationAssertion( "UMLS:C0003079") AnnotationAssertion(Annotation( ) "Asymmetric pupil sizes") @@ -101910,7 +100528,6 @@ SubClassOf( ) Annotation( ) "A malposition of the pupil owing to a developmental defect of the iris.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-05-02T06:01:01Z") -AnnotationAssertion( "MSH:C536185") AnnotationAssertion( "SNOMEDCT_US:193523008") AnnotationAssertion( "SNOMEDCT_US:392461003") AnnotationAssertion( "UMLS:C1271219") @@ -101929,8 +100546,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-05-02T06:23:25Z") AnnotationAssertion(Annotation( ) Annotation( ) "Retina tumor") AnnotationAssertion(Annotation( ) "Retina tumour") -AnnotationAssertion( "MSH:D012175") -AnnotationAssertion( "MSH:D019572") AnnotationAssertion( "NCIT:C7541") AnnotationAssertion( "SNOMEDCT_US:127002001") AnnotationAssertion( "SNOMEDCT_US:19906005") @@ -101948,7 +100563,6 @@ SubClassOf( "PMID:14673306") "A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-05-02T06:26:59Z") -AnnotationAssertion( "MSH:D009507") AnnotationAssertion( "SNOMEDCT_US:254817005") AnnotationAssertion( "SNOMEDCT_US:414929001") AnnotationAssertion( "UMLS:C0027961") @@ -101968,7 +100582,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-02T06:32:41Z") AnnotationAssertion( "HP:0001109") -AnnotationAssertion( "MSH:D004370") AnnotationAssertion( "SNOMEDCT_US:60318001") AnnotationAssertion( "UMLS:C0013261") AnnotationAssertion( "UMLS:C1846464") @@ -102018,7 +100631,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-05-02T10:52:28Z") AnnotationAssertion( "HP:0001486") -AnnotationAssertion( "MSH:D007766") AnnotationAssertion( "SNOMEDCT_US:193982009") AnnotationAssertion( "SNOMEDCT_US:418035005") AnnotationAssertion( "UMLS:C0152227") @@ -102037,7 +100649,6 @@ SubClassOf( ) "Complete absence of all nasal structures.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-05-05T06:44:57Z") -AnnotationAssertion( "MSH:C537438") AnnotationAssertion( "SNOMEDCT_US:111317000") AnnotationAssertion( "UMLS:C0265740") AnnotationAssertion( "UMLS:C4280391") @@ -106768,7 +105379,6 @@ SubClassOf( ) "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T09:48:56Z") -AnnotationAssertion( "MSH:D013280") AnnotationAssertion( "SNOMEDCT_US:20607006") AnnotationAssertion( "SNOMEDCT_US:61170000") AnnotationAssertion( "UMLS:C0038362") @@ -106861,7 +105471,6 @@ SubClassOf( ) "Any abnormality of the salivary glands, the exocrine glands that produce saliva.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T10:38:51Z") -AnnotationAssertion( "MSH:D012466") AnnotationAssertion( "SNOMEDCT_US:10890000") AnnotationAssertion( "UMLS:C0036093") AnnotationAssertion( "UMLS:C0149772") @@ -107021,7 +105630,6 @@ SubClassOf( "PMID:19125428") "Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T11:44:22Z") -AnnotationAssertion( "MSH:D000072676") AnnotationAssertion( "SNOMEDCT_US:67787004") AnnotationAssertion( "UMLS:C0152415") AnnotationAssertion(Annotation( ) "Tongue tied") @@ -107115,7 +105723,6 @@ SubClassOf( ) "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T12:58:04Z") -AnnotationAssertion( "MSH:D009436") AnnotationAssertion( "SNOMEDCT_US:253098009") AnnotationAssertion( "UMLS:C0027794") AnnotationAssertion(Annotation( ) "Incomplete closure of the vertebral arch") @@ -107132,7 +105739,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-12T01:05:50Z") AnnotationAssertion( "HP:0009712") -AnnotationAssertion( "MSH:D013120") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126962006") AnnotationAssertion( "UMLS:C0037930") @@ -107179,7 +105785,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-12T01:13:26Z") AnnotationAssertion( "Sacrococcygeal agenesis") -AnnotationAssertion( "MSH:C537221") AnnotationAssertion( "SNOMEDCT_US:205425003") AnnotationAssertion( "UMLS:C0344490") AnnotationAssertion( "Absent sacrum") @@ -107209,7 +105814,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-07-12T02:16:48Z") AnnotationAssertion(Annotation( ) Annotation( ) "Noisy breathing") -AnnotationAssertion( "MSH:D012135") AnnotationAssertion( "SNOMEDCT_US:248573009") AnnotationAssertion( "SNOMEDCT_US:70407001") AnnotationAssertion( "UMLS:C0038450") @@ -107252,7 +105856,6 @@ SubClassOf( ) "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T02:30:05Z") -AnnotationAssertion( "MSH:D002916") AnnotationAssertion( "SNOMEDCT_US:83035003") AnnotationAssertion( "UMLS:C0008733") AnnotationAssertion( "HP:0010310") @@ -107277,7 +105880,6 @@ SubClassOf( ) "The presence of asymmetrical breasts.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T02:32:46Z") -AnnotationAssertion( "MSH:C565299") AnnotationAssertion( "UMLS:C1854013") AnnotationAssertion( "HP:0010312") AnnotationAssertion( ) @@ -107290,7 +105892,6 @@ SubClassOf( ) "The presence of hypertrophy of the breast.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-07-12T02:34:30Z") -AnnotationAssertion( "MSH:C536821") AnnotationAssertion( "SNOMEDCT_US:372281005") AnnotationAssertion( "SNOMEDCT_US:372283008") AnnotationAssertion( "SNOMEDCT_US:372285001") @@ -107343,7 +105944,6 @@ AnnotationAssertion( AnnotationAssertion( "HP:0006674") AnnotationAssertion( "EPCC:06.01.34") AnnotationAssertion( "ICD-10:Q22.5") -AnnotationAssertion( "MSH:D004437") AnnotationAssertion( "SNOMEDCT_US:204357006") AnnotationAssertion( "UMLS:C0013481") AnnotationAssertion( "Ebstein's anomaly") @@ -108995,7 +107595,6 @@ AnnotationAssertion( "HP:0006123") AnnotationAssertion( "HP:0009605") AnnotationAssertion( "Fyler:4103") -AnnotationAssertion( "MSH:D017689") AnnotationAssertion( "SNOMEDCT_US:367506006") AnnotationAssertion( "UMLS:C0152427") AnnotationAssertion(Annotation( ) Annotation( ) "More than five fingers or toes on hands or feet") @@ -109023,7 +107622,6 @@ SubClassOf( ) Annotation( ) Annotation( "PMID:32491496") "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-14T09:54:12Z") -AnnotationAssertion( "MSH:D011665") AnnotationAssertion( "SNOMEDCT_US:91434003") AnnotationAssertion( "UMLS:C0034088") AnnotationAssertion( "Pulmonary incompetence") @@ -109042,8 +107640,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-14T09:59:38Z") AnnotationAssertion( "Fyler:1110") -AnnotationAssertion( "MSH:C536112") -AnnotationAssertion( "MSH:C548006") AnnotationAssertion( "SNOMEDCT_US:253373002") AnnotationAssertion( "UMLS:C0344735") AnnotationAssertion( "UMLS:C0741296") @@ -109063,7 +107659,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2009-09-14T10:10:10Z") AnnotationAssertion( "EPCC:06.01.92") AnnotationAssertion( "ICD-10:Q22.4") -AnnotationAssertion( "MSH:D014264") AnnotationAssertion( "SNOMEDCT_US:49915006") AnnotationAssertion( "UMLS:C0040963") AnnotationAssertion( "HP:0010446") @@ -109078,7 +107673,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-14T10:16:39Z") AnnotationAssertion(Annotation(rdfs:label "Anal fistula") "MEDDRA:10002156") -AnnotationAssertion( "MSH:D012003") AnnotationAssertion( "SNOMEDCT_US:72779005") AnnotationAssertion( "UMLS:C0205929") AnnotationAssertion( "Fistula in ano") @@ -109094,7 +107688,6 @@ SubClassOf( ) "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-14T10:23:09Z") -AnnotationAssertion( "MSH:C562562") AnnotationAssertion( "SNOMEDCT_US:37054000") AnnotationAssertion( "UMLS:C0266190") AnnotationAssertion( "Atresia of the large intestine") @@ -109110,7 +107703,6 @@ SubClassOf( ) "An abnormal narrowing of the lumen of the esophagus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-14T10:42:33Z") -AnnotationAssertion( "MSH:D004940") AnnotationAssertion( "SNOMEDCT_US:63305008") AnnotationAssertion( "UMLS:C0014866") AnnotationAssertion(Annotation( ) Annotation( ) "Narrowing of the esophagus") @@ -109211,7 +107803,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-15T08:21:32Z") -AnnotationAssertion( "MSH:D058489") AnnotationAssertion( "SNOMEDCT_US:8800006") AnnotationAssertion( "UMLS:C0238394") AnnotationAssertion( "HP:0010458") @@ -109225,7 +107816,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-15T08:28:15Z") AnnotationAssertion( "HP:0003242") -AnnotationAssertion( "MSH:D050090") AnnotationAssertion( "SNOMEDCT_US:18978002") AnnotationAssertion( "UMLS:C0266361") AnnotationAssertion( "Testicular and ovarian tissue present") @@ -109391,7 +107981,6 @@ SubClassOf( ) "Buildups of minerals that form in the urinary bladder.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-15T10:03:20Z") -AnnotationAssertion( "MSH:D001744") AnnotationAssertion( "SNOMEDCT_US:70650003") AnnotationAssertion( "UMLS:C0005683") AnnotationAssertion( "HP:0010474") @@ -109675,7 +108264,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-17T11:11:10Z") AnnotationAssertion(Annotation(rdfs:label "Sympodia") "MEDDRA:10049216") -AnnotationAssertion( "MSH:D004480") AnnotationAssertion( "SNOMEDCT_US:253191000") AnnotationAssertion( "SNOMEDCT_US:67254002") AnnotationAssertion( "SNOMEDCT_US:91089008") @@ -109817,7 +108405,6 @@ SubClassOf( ) "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-19T09:59:48Z") -AnnotationAssertion( "MSH:D000070591") AnnotationAssertion( "UMLS:C4082144") AnnotationAssertion( "HP:0010508") AnnotationAssertion(rdfs:label "Metatarsus valgus") @@ -109894,7 +108481,6 @@ SubClassOf( ) "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-19T04:14:54Z") -AnnotationAssertion( "MSH:D006964") AnnotationAssertion( "SNOMEDCT_US:10649000") AnnotationAssertion( "UMLS:C0020506") AnnotationAssertion( "HP:0010514") @@ -109922,7 +108508,6 @@ SubClassOf( ) "Enlargement of the thymus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-19T04:23:10Z") -AnnotationAssertion( "MSH:D013952") AnnotationAssertion( "UMLS:C0040115") AnnotationAssertion(Annotation( ) "Enlarged thymus") AnnotationAssertion( "Thymic hyperplasia") @@ -109948,7 +108533,6 @@ SubClassOf( ) "An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-19T04:38:04Z") -AnnotationAssertion( "MSH:D013955") AnnotationAssertion( "SNOMEDCT_US:39462005") AnnotationAssertion( "UMLS:C0040124") AnnotationAssertion( "Thyroglossal duct cyst") @@ -109976,7 +108560,6 @@ SubClassOf( ) "Gait apraxia affecting the ability to make walking movements with the legs.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T11:01:35Z") -AnnotationAssertion( "MSH:D020235") AnnotationAssertion( "SNOMEDCT_US:30767006") AnnotationAssertion( "UMLS:C1510417") AnnotationAssertion( "HP:0010521") @@ -109990,7 +108573,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-09-20T11:19:24Z") AnnotationAssertion( "HP:0006871") -AnnotationAssertion( "MSH:D004410") AnnotationAssertion( "SNOMEDCT_US:52824009") AnnotationAssertion( "SNOMEDCT_US:59770006") AnnotationAssertion( "SNOMEDCT_US:9236007") @@ -110005,7 +108587,6 @@ SubClassOf( ) "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T11:27:07Z") -AnnotationAssertion( "MSH:D004410") AnnotationAssertion( "SNOMEDCT_US:9236007") AnnotationAssertion( "UMLS:C0002018") AnnotationAssertion(Annotation( ) "Text blindness") @@ -110027,7 +108608,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T11:33:03Z") -AnnotationAssertion( "MSH:D000377") AnnotationAssertion( "SNOMEDCT_US:42341009") AnnotationAssertion( "UMLS:C0001816") AnnotationAssertion( "Agnosia") @@ -110047,7 +108627,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T11:37:33Z") -AnnotationAssertion( "MSH:D000377") AnnotationAssertion( "SNOMEDCT_US:3449007") AnnotationAssertion( "UMLS:C0234509") AnnotationAssertion( "HP:0010525") @@ -110059,7 +108638,6 @@ SubClassOf( ) "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T11:40:43Z") -AnnotationAssertion( "MSH:D000381") AnnotationAssertion( "SNOMEDCT_US:88278002") AnnotationAssertion( "UMLS:C0234144") AnnotationAssertion( "Agraphia") @@ -110079,7 +108657,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T11:41:58Z") -AnnotationAssertion( "MSH:D000377") AnnotationAssertion( "SNOMEDCT_US:25094008") AnnotationAssertion( "UMLS:C0234505") AnnotationAssertion( "Astereognosis") @@ -110100,7 +108677,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T11:45:49Z") -AnnotationAssertion( "MSH:D020238") AnnotationAssertion( "SNOMEDCT_US:18358003") AnnotationAssertion( "UMLS:C0234512") AnnotationAssertion(Annotation( ) "Face blindness") @@ -110125,7 +108701,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T08:17:27Z") -AnnotationAssertion( "MSH:D004454") AnnotationAssertion( "SNOMEDCT_US:64712007") AnnotationAssertion( "UMLS:C0013528") AnnotationAssertion( "UMLS:C4280380") @@ -110143,7 +108718,6 @@ SubClassOf( ) Annotation( "PMID:33101766") "Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T08:50:17Z") -AnnotationAssertion( "MSH:D009207") AnnotationAssertion( "SNOMEDCT_US:9366002") AnnotationAssertion( "UMLS:C0030214") AnnotationAssertion( "Palatal myoclonus") @@ -110168,7 +108742,6 @@ SubClassOf( ) "Paroxysmal episodes of vertigo.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T09:12:15Z") -AnnotationAssertion( "MSH:D014717") AnnotationAssertion( "SNOMEDCT_US:103290003") AnnotationAssertion( "UMLS:C0522357") AnnotationAssertion( "HP:0010532") @@ -110180,7 +108753,6 @@ SubClassOf( ) Annotation( "PMID:7499100") "The combination of pendular nystagmus, head nodding, and torticollis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T09:19:57Z") -AnnotationAssertion( "MSH:D013036") AnnotationAssertion( "SNOMEDCT_US:18191000") AnnotationAssertion( "UMLS:C0546878") AnnotationAssertion( "HP:0010533") @@ -110192,7 +108764,6 @@ SubClassOf( ) "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-20T09:33:50Z") -AnnotationAssertion( "MSH:D020236") AnnotationAssertion( "SNOMEDCT_US:230736007") AnnotationAssertion( "UMLS:C0338591") AnnotationAssertion( "HP:0010534") @@ -110210,7 +108781,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-21T08:53:35Z") -AnnotationAssertion( "MSH:D012891") AnnotationAssertion( "SNOMEDCT_US:73430006") AnnotationAssertion( "UMLS:C0037315") AnnotationAssertion(Annotation( ) Annotation( ) "Pauses in breathing while sleeping") @@ -110231,7 +108801,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-21T08:57:02Z") -AnnotationAssertion( "MSH:D020182") AnnotationAssertion( "UMLS:C0520680") AnnotationAssertion( "Central sleep apnoea") AnnotationAssertion( "HP:0010536") @@ -110340,7 +108909,6 @@ SubClassOf( ) Annotation( ) "Bursts of large-amplitude multidirectional saccades without intersaccadic interval") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-23T10:40:51Z") -AnnotationAssertion( "MSH:D015835") AnnotationAssertion( "SNOMEDCT_US:194177006") AnnotationAssertion( "UMLS:C0242567") AnnotationAssertion( "HP:0010543") @@ -110354,7 +108922,6 @@ SubClassOf( ) "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-23T10:45:18Z") -AnnotationAssertion( "MSH:D009759") AnnotationAssertion( "SNOMEDCT_US:111533001") AnnotationAssertion( "UMLS:C0271386") AnnotationAssertion( "HP:0010544") @@ -110391,7 +108958,6 @@ SubClassOf( ) "A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-09-29T09:21:45Z") -AnnotationAssertion( "MSH:D009123") AnnotationAssertion( "SNOMEDCT_US:186611004") AnnotationAssertion( "SNOMEDCT_US:397488002") AnnotationAssertion( "UMLS:C0026825") @@ -110405,7 +108971,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2009-10-01T08:15:50Z") AnnotationAssertion( "HP:0004304") -AnnotationAssertion( "MSH:D009222") AnnotationAssertion( "UMLS:C0751359") AnnotationAssertion( "Transient swelling of muscle induced by percussion") AnnotationAssertion( "HP:0010548") @@ -110428,7 +108993,6 @@ SubClassOf( ) "Severe or complete weakness of both lower extremities with sparing of the upper extremities.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-10-01T08:32:57Z") -AnnotationAssertion( "MSH:D010264") AnnotationAssertion( "SNOMEDCT_US:60389000") AnnotationAssertion( "UMLS:C0030486") AnnotationAssertion(Annotation( ) Annotation( ) "Leg paralysis") @@ -110544,7 +109108,6 @@ SubClassOf( ) AnnotationAssertion( "2009-10-15T07:39:56Z") AnnotationAssertion(Annotation(rdfs:label "Keloid scar") "MEDDRA:10023330") -AnnotationAssertion( "MSH:D007627") AnnotationAssertion( "SNOMEDCT_US:33659008") AnnotationAssertion( "SNOMEDCT_US:58405006") AnnotationAssertion( "UMLS:C0022548") @@ -110581,7 +109144,6 @@ SubClassOf( ) "A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.") AnnotationAssertion(dc:creator "sandra1") AnnotationAssertion( "2009-10-16T02:51:16Z") -AnnotationAssertion( "MSH:D006222") AnnotationAssertion( "SNOMEDCT_US:400006008") AnnotationAssertion( "SNOMEDCT_US:51398009") AnnotationAssertion( "UMLS:C0018552") @@ -111027,7 +109589,6 @@ SubClassOf( ) "A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.") AnnotationAssertion(dc:creator "sandra1") AnnotationAssertion( "2009-10-27T10:58:24Z") -AnnotationAssertion( "MSH:D017043") AnnotationAssertion( "SNOMEDCT_US:1482004") AnnotationAssertion( "UMLS:C0007933") AnnotationAssertion(Annotation( ) "Meibomian gland lipogranuloma") @@ -111040,7 +109601,6 @@ SubClassOf( ) "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.") AnnotationAssertion(dc:creator "sandra1") AnnotationAssertion( "2009-10-27T11:01:13Z") -AnnotationAssertion( "MSH:D006726") AnnotationAssertion( "SNOMEDCT_US:1489008") AnnotationAssertion( "SNOMEDCT_US:397513003") AnnotationAssertion( "UMLS:C0019917") @@ -111117,7 +109677,6 @@ SubClassOf( ) "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.") AnnotationAssertion(dc:creator "sandra1") AnnotationAssertion( "2009-10-28T05:52:39Z") -AnnotationAssertion( "MSH:D005350") AnnotationAssertion( "NCIT:C3041") AnnotationAssertion( "SNOMEDCT_US:112682009") AnnotationAssertion( "SNOMEDCT_US:424568000") @@ -111132,7 +109691,6 @@ SubClassOf( ) "Angiofibroma consist of many often dilated vessels.") AnnotationAssertion(dc:creator "sandra1") AnnotationAssertion( "2009-10-28T06:00:14Z") -AnnotationAssertion( "MSH:D018322") AnnotationAssertion( "NCIT:C3799") AnnotationAssertion( "SNOMEDCT_US:302857002") AnnotationAssertion( "SNOMEDCT_US:60392001") @@ -111171,7 +109729,6 @@ SubClassOf( ) "The presence of a fibroma of the ovary.") AnnotationAssertion(dc:creator "sandra1") AnnotationAssertion( "2009-10-28T06:13:11Z") -AnnotationAssertion( "MSH:C562391") AnnotationAssertion( "NCIT:C3041") AnnotationAssertion( "SNOMEDCT_US:254865006") AnnotationAssertion( "UMLS:C0149951") @@ -111279,7 +109836,6 @@ SubClassOf( ) Annotation( ) "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-12-05T03:03:17Z") -AnnotationAssertion( "MSH:D010903") AnnotationAssertion( "SNOMEDCT_US:62818001") AnnotationAssertion( "UMLS:C0032008") AnnotationAssertion( "UMLS:C4023771") @@ -111333,8 +109889,6 @@ AnnotationAssertion( "HP:0004670") AnnotationAssertion( "HP:0007212") AnnotationAssertion( "HP:0200004") -AnnotationAssertion( "MSH:D005158") -AnnotationAssertion( "MSH:D020330") AnnotationAssertion( "SNOMEDCT_US:193093009") AnnotationAssertion( "SNOMEDCT_US:95666008") AnnotationAssertion( "UMLS:C0376175") @@ -111442,7 +109996,6 @@ SubClassOf( ) "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2009-12-06T08:05:54Z") -AnnotationAssertion( "MSH:D065707") AnnotationAssertion( "SNOMEDCT_US:253159001") AnnotationAssertion( "SNOMEDCT_US:38353004") AnnotationAssertion( "UMLS:C0266484") @@ -111980,7 +110533,6 @@ SubClassOf( ) "Enuresis occurring during sleeping hours.") AnnotationAssertion(dc:creator "sandra1") AnnotationAssertion( "2010-03-01T09:11:31Z") -AnnotationAssertion( "MSH:D053206") AnnotationAssertion( "SNOMEDCT_US:8009008") AnnotationAssertion( "UMLS:C0270327") AnnotationAssertion( "Nocturnal enuresis") @@ -112129,7 +110681,6 @@ SubClassOf( ) Annotation( "PMID:19125433") "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-03-05T05:03:16Z") -AnnotationAssertion( "MSH:C535689") AnnotationAssertion( "SNOMEDCT_US:715440003") AnnotationAssertion( "UMLS:C1851100") AnnotationAssertion( "Mirror image duplication of digits") @@ -112183,7 +110734,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:vkumar") "A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-03-11T02:49:53Z") -AnnotationAssertion( "MSH:C563426") AnnotationAssertion( "UMLS:C1833118") AnnotationAssertion(Annotation( ) "Pulverulent cataract") AnnotationAssertion( "HP:0010693") @@ -112293,7 +110843,6 @@ AnnotationAssertion( AnnotationAssertion( "HP:0002852") AnnotationAssertion( "HP:0004314") AnnotationAssertion( "HP:0004435") -AnnotationAssertion( "MSH:D006942") AnnotationAssertion( "SNOMEDCT_US:127388009") AnnotationAssertion( "SNOMEDCT_US:129646001") AnnotationAssertion( "UMLS:C0020455") @@ -112683,7 +111232,6 @@ SubClassOf( ) "Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-21T06:27:42Z") -AnnotationAssertion( "MSH:D005357") AnnotationAssertion( "SNOMEDCT_US:10623005") AnnotationAssertion( "UMLS:C0016063") AnnotationAssertion( "HP:0010734") @@ -112695,7 +111243,6 @@ SubClassOf( ) "Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-21T06:31:50Z") -AnnotationAssertion( "MSH:D005359") AnnotationAssertion( "SNOMEDCT_US:36517007") AnnotationAssertion( "UMLS:C0016065") AnnotationAssertion( "HP:0010735") @@ -112707,7 +111254,6 @@ SubClassOf( ) "Fibrous dysplasia of the bones were lesions are localized in only one bone.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-21T06:31:50Z") -AnnotationAssertion( "MSH:D005358") AnnotationAssertion( "SNOMEDCT_US:89859004") AnnotationAssertion( "UMLS:C0016064") AnnotationAssertion( "HP:0010736") @@ -112719,7 +111265,6 @@ SubClassOf( ) "Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-21T07:19:11Z") -AnnotationAssertion( "MSH:D010023") AnnotationAssertion( "SNOMEDCT_US:9147009") AnnotationAssertion( "UMLS:C0029455") AnnotationAssertion( "HP:0010739") @@ -113105,7 +111650,6 @@ SubClassOf( ) "A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-25T09:00:39Z") -AnnotationAssertion( "MSH:D002817") AnnotationAssertion( "NCIT:C2947") AnnotationAssertion( "SNOMEDCT_US:50007008") AnnotationAssertion( "UMLS:C0008487") @@ -113180,7 +111724,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-04-29T09:55:15Z") AnnotationAssertion( "HP:0010768") -AnnotationAssertion( "MSH:D010864") AnnotationAssertion( "SNOMEDCT_US:47639008") AnnotationAssertion( "UMLS:C0031925") AnnotationAssertion( "Pilonidal cyst") @@ -113193,7 +111736,6 @@ SubClassOf( ) AnnotationAssertion( "2010-04-29T09:55:15Z") -AnnotationAssertion( "MSH:D010864") AnnotationAssertion( "SNOMEDCT_US:47639008") AnnotationAssertion( "UMLS:C0031925") AnnotationAssertion( "HP:0010770") @@ -113218,7 +111760,6 @@ SubClassOf( ) "A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-29T10:02:26Z") -AnnotationAssertion( "MSH:D012587") AnnotationAssertion( "SNOMEDCT_US:111323005") AnnotationAssertion( "SNOMEDCT_US:39905002") AnnotationAssertion( "UMLS:C0036400") @@ -113326,7 +111867,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-29T04:42:44Z") -AnnotationAssertion( "MSH:D012001") AnnotationAssertion( "SNOMEDCT_US:194399009") AnnotationAssertion( "SNOMEDCT_US:25289003") AnnotationAssertion( "UMLS:C0034880") @@ -113367,8 +111907,6 @@ SubClassOf( ) Annotation( ) "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-04-30T11:40:43Z") -AnnotationAssertion( "MSH:D004890") -AnnotationAssertion( "MSH:D005483") AnnotationAssertion( "SNOMEDCT_US:20255002") AnnotationAssertion( "SNOMEDCT_US:238810007") AnnotationAssertion( "SNOMEDCT_US:247441003") @@ -113390,7 +111928,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-05-04T09:35:15Z") AnnotationAssertion(Annotation( ) "Uterine cancer") -AnnotationAssertion( "MSH:D014594") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126908007") AnnotationAssertion( "UMLS:C0042138") @@ -113419,7 +111956,6 @@ SubClassOf( ) "The presence of a neoplasm of the urinary system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-04T09:45:25Z") -AnnotationAssertion( "MSH:D014571") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126879004") AnnotationAssertion( "SNOMEDCT_US:254913005") @@ -113451,7 +111987,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-05-04T09:48:35Z") AnnotationAssertion(Annotation( ) "Testicular cancer") -AnnotationAssertion( "MSH:D013736") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126900000") AnnotationAssertion( "UMLS:C0039590") @@ -113551,7 +112086,6 @@ SubClassOf( ) "A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-25T09:18:32Z") -AnnotationAssertion( "MSH:D018325") AnnotationAssertion( "NCIT:C3801") AnnotationAssertion( "SNOMEDCT_US:81201000") AnnotationAssertion( "UMLS:C0206734") @@ -113582,7 +112116,6 @@ SubClassOf( ) "A neoplasm of the pineal gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-25T09:27:58Z") -AnnotationAssertion( "MSH:D010871") AnnotationAssertion( "NCIT:C3328") AnnotationAssertion( "SNOMEDCT_US:127026004") AnnotationAssertion( "SNOMEDCT_US:359619007") @@ -113718,7 +112251,6 @@ SubClassOf( "PMID:19125428") "Visible space between the dental arches in occlusion.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-02T09:30:43Z") -AnnotationAssertion( "MSH:D024343") AnnotationAssertion( "SNOMEDCT_US:35580009") AnnotationAssertion( "UMLS:C0266061") AnnotationAssertion(Annotation( ) Annotation( ) "Absence of overlap of upper and lower teeth") @@ -113853,7 +112385,6 @@ SubClassOf( ) "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-10T12:07:03Z") -AnnotationAssertion( "MSH:D054000") AnnotationAssertion( "SNOMEDCT_US:239112008") AnnotationAssertion( "SNOMEDCT_US:52298009") AnnotationAssertion( "SNOMEDCT_US:707136009") @@ -113872,7 +112403,6 @@ SubClassOf( ) Annotation( "PMID:20542174") "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-10T12:12:32Z") -AnnotationAssertion( "MSH:C580062") AnnotationAssertion( "SNOMEDCT_US:239107007") AnnotationAssertion( "SNOMEDCT_US:25201003") AnnotationAssertion( "UMLS:C0334082") @@ -113887,7 +112417,6 @@ SubClassOf( ) "A type of nevus sebaceous with a linear form, raised borders and yellowish color.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-10T12:17:17Z") -AnnotationAssertion( "MSH:D054000") AnnotationAssertion( "SNOMEDCT_US:239112008") AnnotationAssertion( "SNOMEDCT_US:52298009") AnnotationAssertion( "SNOMEDCT_US:707136009") @@ -113956,7 +112485,6 @@ SubClassOf( ) Annotation( "PMID:28276060") Annotation( "PMID:28276064") "Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-10T03:27:12Z") -AnnotationAssertion( "MSH:D004828") AnnotationAssertion( "SNOMEDCT_US:89525009") AnnotationAssertion( "UMLS:C0270820") AnnotationAssertion( "Gelastic seizure") @@ -113971,7 +112499,6 @@ SubClassOf( ) "A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-10T03:35:29Z") -AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:2228002") AnnotationAssertion( "UMLS:C0235068") AnnotationAssertion( "HP:0010822") @@ -114048,7 +112575,6 @@ SubClassOf( ) Annotation( "PMID:12145388") "Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-10T04:15:33Z") -AnnotationAssertion( "MSH:D019569") AnnotationAssertion( "SNOMEDCT_US:13753008") AnnotationAssertion( "UMLS:C0278152") AnnotationAssertion(Annotation( ) Annotation( ) "Spasms on one side of the face") @@ -114400,7 +112926,6 @@ SubClassOf( ) "A kind of breech presentation in which the hips are flexed and the knees are extended.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-03T12:33:15Z") -AnnotationAssertion( "MSH:D001946") AnnotationAssertion( "SNOMEDCT_US:18559007") AnnotationAssertion( "UMLS:C0233286") AnnotationAssertion( "HP:0010859") @@ -114412,7 +112937,6 @@ SubClassOf( ) "A kind of breech presentation in which the hips are flexed and the knees are flexed.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-03T12:34:30Z") -AnnotationAssertion( "MSH:D001946") AnnotationAssertion( "SNOMEDCT_US:49168004") AnnotationAssertion( "UMLS:C0233283") AnnotationAssertion( "HP:0010860") @@ -114424,7 +112948,6 @@ SubClassOf( ) "A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-03T12:34:57Z") -AnnotationAssertion( "MSH:D001946") AnnotationAssertion( "SNOMEDCT_US:38049006") AnnotationAssertion( "UMLS:C0426146") AnnotationAssertion( "HP:0010861") @@ -114479,7 +113002,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-03T07:09:09Z") -AnnotationAssertion( "MSH:D019958") AnnotationAssertion( "SNOMEDCT_US:18941000") AnnotationAssertion( "UMLS:C0029121") AnnotationAssertion(Annotation( ) "ODD") @@ -114506,7 +113028,6 @@ SubClassOf( ) "A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-18T01:17:10Z") -AnnotationAssertion( "MSH:D001259") AnnotationAssertion( "SNOMEDCT_US:20262006") AnnotationAssertion( "SNOMEDCT_US:39384006") AnnotationAssertion( "UMLS:C0004134") @@ -114540,7 +113061,6 @@ SubClassOf( ) "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-18T01:57:54Z") -AnnotationAssertion( "MSH:D001259") AnnotationAssertion( "SNOMEDCT_US:445458007") AnnotationAssertion( "SNOMEDCT_US:69131009") AnnotationAssertion( "UMLS:C0037921") @@ -114632,7 +113152,6 @@ SubClassOf( ) Annotation( "eMedicine:402757") "The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-09-13T08:02:26Z") -AnnotationAssertion( "MSH:C537852") AnnotationAssertion( "UMLS:C0948242") AnnotationAssertion(Annotation( ) "Foetal cystic hygroma") AnnotationAssertion( "HP:0010878") @@ -114681,7 +113200,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-09-20T11:08:09Z") AnnotationAssertion( "Fyler:1001") -AnnotationAssertion( "MSH:D018633") AnnotationAssertion( "SNOMEDCT_US:204342004") AnnotationAssertion( "SNOMEDCT_US:448564004") AnnotationAssertion( "UMLS:C0242855") @@ -114719,7 +113237,6 @@ SubClassOf( ) "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-09-24T10:11:05Z") -AnnotationAssertion( "MSH:D010020") AnnotationAssertion( "SNOMEDCT_US:240196003") AnnotationAssertion( "SNOMEDCT_US:398199007") AnnotationAssertion( "SNOMEDCT_US:72756009") @@ -114745,7 +113262,6 @@ SubClassOf( ) "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-09-24T10:15:07Z") -AnnotationAssertion( "MSH:D010008") AnnotationAssertion( "SNOMEDCT_US:82562007") AnnotationAssertion( "UMLS:C0029421") AnnotationAssertion( "Osteochondrosis dissecans") @@ -114770,7 +113286,6 @@ SubClassOf( ) "Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-09-25T11:04:19Z") -AnnotationAssertion( "MSH:D010020") AnnotationAssertion( "SNOMEDCT_US:360466009") AnnotationAssertion( "SNOMEDCT_US:367356000") AnnotationAssertion( "SNOMEDCT_US:84062004") @@ -114789,7 +113304,6 @@ SubClassOf( ) "Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-09-25T11:04:19Z") -AnnotationAssertion( "MSH:D055034") AnnotationAssertion( "SNOMEDCT_US:72047008") AnnotationAssertion( "SNOMEDCT_US:79353000") AnnotationAssertion( "UMLS:C0029376") @@ -114805,7 +113319,6 @@ SubClassOf( ) "A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-09-25T11:04:19Z") -AnnotationAssertion( "MSH:D012544") AnnotationAssertion( "SNOMEDCT_US:53406005") AnnotationAssertion( "UMLS:C0036310") AnnotationAssertion( "Calve disease") @@ -114870,7 +113383,6 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "An elevated plasma concentration of sarcosine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-11-30T05:38:24Z") -AnnotationAssertion( "MSH:C537236") AnnotationAssertion( "SNOMEDCT_US:64852002") AnnotationAssertion( "UMLS:C0268563") AnnotationAssertion(Annotation( ) Annotation( ) "High plasma sarcosine levels") @@ -114987,7 +113499,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of histidine in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-08T07:27:47Z") -AnnotationAssertion( "MSH:C538320") AnnotationAssertion( "SNOMEDCT_US:124628005") AnnotationAssertion( "SNOMEDCT_US:410058007") AnnotationAssertion( "UMLS:C0220992") @@ -115040,7 +113551,6 @@ SubClassOf( "HPO_CONTRIBUTOR:gcarletti") "An increased concentration of valine in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-08T08:44:27Z") -AnnotationAssertion( "MSH:C536524") AnnotationAssertion( "SNOMEDCT_US:47719001") AnnotationAssertion( "UMLS:C0268573") AnnotationAssertion(Annotation( ) Annotation( ) "High blood valine concentration") @@ -115162,7 +113672,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-12T12:00:37Z") AnnotationAssertion( "HP:0007713") -AnnotationAssertion( "MSH:C535342") AnnotationAssertion( "UMLS:C1861821") AnnotationAssertion( "HP:0010920") AnnotationAssertion(rdfs:comment "Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders.") @@ -115184,7 +113693,6 @@ SubClassOf( ) Annotation( "PMID:17539799") "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-12T12:31:45Z") -AnnotationAssertion( "MSH:D002386") AnnotationAssertion( "UMLS:C0524524") AnnotationAssertion( "HP:0010922") AnnotationAssertion(rdfs:label "Membranous cataract") @@ -115226,7 +113734,6 @@ SubClassOf( ) Annotation( "PMID:10521291") Annotation( "PMID:9718335") "A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-19T03:47:35Z") -AnnotationAssertion( "MSH:C566162") AnnotationAssertion( "UMLS:C1861832") AnnotationAssertion( "Fasciculiform cataract") AnnotationAssertion( "Frosted cataract") @@ -115430,7 +113937,6 @@ SubClassOf( ) "Absence of the nasal bone.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-01-16T02:32:39Z") -AnnotationAssertion( "MSH:C562753") AnnotationAssertion( "SNOMEDCT_US:91900007") AnnotationAssertion( "UMLS:C0339850") AnnotationAssertion( "UMLS:C0339851") @@ -115462,7 +113968,6 @@ SubClassOf( ) Annotation( "PMID:16100637") Annotation( "PMID:20175047") "Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-01-16T03:04:36Z") -AnnotationAssertion( "MSH:D058535") AnnotationAssertion( "UMLS:C2936423") AnnotationAssertion( "Echogenic bowel") AnnotationAssertion(Annotation( ) "Echogenic foetal bowel") @@ -115492,7 +113997,6 @@ SubClassOf( ) Annotation( "PMID:16100637") "Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-01-16T03:36:31Z") -AnnotationAssertion( "MSH:D058536") AnnotationAssertion( "SNOMEDCT_US:430035004") AnnotationAssertion( "UMLS:C2317073") AnnotationAssertion( "Fetal renal pelvic dilatation") @@ -115601,7 +114105,6 @@ SubClassOf( ) Annotation( "eMedicine:1135286") "A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-01-17T02:22:26Z") -AnnotationAssertion( "MSH:D006849") AnnotationAssertion( "SNOMEDCT_US:230746009") AnnotationAssertion( "SNOMEDCT_US:82346000") AnnotationAssertion( "UMLS:C0549423") @@ -115644,7 +114147,6 @@ SubClassOf( ) Annotation( "PMID:20837325") "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-01-18T10:43:58Z") -AnnotationAssertion( "MSH:C536139") AnnotationAssertion( "UMLS:C2931117") AnnotationAssertion(Annotation( ) "Foetal megacystis") AnnotationAssertion( "HP:0010956") @@ -115672,7 +114174,6 @@ SubClassOf( ) "A bilateral form of agenesis of the kidney.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-01-18T11:42:58Z") -AnnotationAssertion( "MSH:C536482") AnnotationAssertion( "SNOMEDCT_US:41962002") AnnotationAssertion( "UMLS:C1609433") AnnotationAssertion( "HP:0010958") @@ -115687,7 +114188,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-01-18T11:56:02Z") AnnotationAssertion( "HP:0006540") AnnotationAssertion( "HP:0006545") -AnnotationAssertion( "MSH:D015615") AnnotationAssertion( "SNOMEDCT_US:111318005") AnnotationAssertion( "UMLS:C0010668") AnnotationAssertion(Annotation( ) "CCAM") @@ -115949,7 +114449,6 @@ SubClassOf( ) "An abnormal increase in the level of lipoprotein cholesterol in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-02-07T10:56:30Z") -AnnotationAssertion( "MSH:D006951") AnnotationAssertion( "SNOMEDCT_US:3744001") AnnotationAssertion( "UMLS:C0020476") AnnotationAssertion( "HP:0010980") @@ -115962,7 +114461,6 @@ SubClassOf( "An abnormal decrease in the level of lipoprotein cholesterol in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-02-07T11:01:50Z") -AnnotationAssertion( "MSH:D007009") AnnotationAssertion( "SNOMEDCT_US:267436001") AnnotationAssertion( "SNOMEDCT_US:363140000") AnnotationAssertion( "UMLS:C0020623") @@ -115977,7 +114475,6 @@ SubClassOf( ) Annotation( "ISBN:978-0192628961") "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-02-08T10:12:39Z") -AnnotationAssertion( "MSH:D020412") AnnotationAssertion( "UMLS:C1148552") AnnotationAssertion( "Common, complex disease") AnnotationAssertion( "Complex disease") @@ -115991,7 +114488,6 @@ SubClassOf( ) Annotation( "ISBN:978-0192628961") "A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-02-08T10:13:16Z") -AnnotationAssertion( "MSH:D020412") AnnotationAssertion( "UMLS:C1136026") AnnotationAssertion( "HP:0010983") AnnotationAssertion(rdfs:label "Oligogenic inheritance") @@ -116080,7 +114576,6 @@ SubClassOf( ) Annotation( "PMID:12559262") "Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-02-09T12:13:46Z") -AnnotationAssertion( "MSH:D014550") AnnotationAssertion( "SNOMEDCT_US:22220005") AnnotationAssertion( "UMLS:C0042025") AnnotationAssertion( "HP:0010992") @@ -116197,7 +114692,6 @@ AnnotationAssertion( "HP:0005711") AnnotationAssertion( "HP:0005741") AnnotationAssertion( "HP:0010738") -AnnotationAssertion( "MSH:D010026") AnnotationAssertion( "SNOMEDCT_US:49347007") AnnotationAssertion( "UMLS:C0029464") AnnotationAssertion(Annotation( ) "Increased bone density") @@ -116215,7 +114709,6 @@ SubClassOf( ) "Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-02-13T11:58:36Z") -AnnotationAssertion( "MSH:D010022") AnnotationAssertion( "SNOMEDCT_US:1926006") AnnotationAssertion( "SNOMEDCT_US:367489004") AnnotationAssertion( "UMLS:C0029454") @@ -116484,8 +114977,6 @@ SubClassOf( ) "An abnormality of the gastrointestinal tract.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-01T07:52:06Z") -AnnotationAssertion( "MSH:D004066") -AnnotationAssertion( "MSH:D005767") AnnotationAssertion( "SNOMEDCT_US:119292006") AnnotationAssertion( "SNOMEDCT_US:25374005") AnnotationAssertion( "SNOMEDCT_US:53619000") @@ -116620,7 +115111,6 @@ SubClassOf( ) Annotation( "PMID:21039326") "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-06T10:56:39Z") -AnnotationAssertion( "MSH:D000686") AnnotationAssertion( "SNOMEDCT_US:17602002") AnnotationAssertion( "UMLS:C0002726") AnnotationAssertion(Annotation( ) "Amyloid disease") @@ -117069,7 +115559,6 @@ SubClassOf( ) "Developmental dysplasia of dentin affecting only the primary dentition.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-11T12:26:32Z") -AnnotationAssertion( "MSH:D003805") AnnotationAssertion( "SNOMEDCT_US:109492001") AnnotationAssertion( "UMLS:C0011430") AnnotationAssertion( "UMLS:C4023558") @@ -117172,7 +115661,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2011-03-10T02:38:59Z") AnnotationAssertion(Annotation( ) "Extra tooth") AnnotationAssertion(Annotation( ) "Extra tooth in the midline") -AnnotationAssertion( "MSH:D014096") AnnotationAssertion( "SNOMEDCT_US:17802000") AnnotationAssertion( "SNOMEDCT_US:266414008") AnnotationAssertion( "SNOMEDCT_US:367534004") @@ -117193,7 +115681,6 @@ SubClassOf( ) "The presence of an odontoma.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-10T02:40:52Z") -AnnotationAssertion( "MSH:D009810") AnnotationAssertion( "SNOMEDCT_US:79074005") AnnotationAssertion( "UMLS:C0028882") AnnotationAssertion(Annotation( ) "Odontomas") @@ -117210,7 +115697,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-10T02:52:19Z") AnnotationAssertion( "HP:0000672") -AnnotationAssertion( "MSH:D014096") AnnotationAssertion( "SNOMEDCT_US:266414008") AnnotationAssertion( "SNOMEDCT_US:367534004") AnnotationAssertion( "SNOMEDCT_US:8666004") @@ -117265,7 +115751,6 @@ SubClassOf( ) AnnotationAssertion( "2011-03-10T03:56:41Z") -AnnotationAssertion( "MSH:C538215") AnnotationAssertion( "SNOMEDCT_US:109493006") AnnotationAssertion( "UMLS:C0399379") AnnotationAssertion( "UMLS:C4082200") @@ -117375,7 +115860,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-11T10:18:55Z") AnnotationAssertion(Annotation( ) Annotation( ) "Buried tooth") -AnnotationAssertion( "MSH:D014095") AnnotationAssertion( "SNOMEDCT_US:129263008") AnnotationAssertion( "SNOMEDCT_US:235104008") AnnotationAssertion( "UMLS:C0040456") @@ -117522,7 +116006,6 @@ SubClassOf( ) Annotation( "PMID:31468724") "An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-11T02:07:28Z") -AnnotationAssertion( "MSH:D003719") AnnotationAssertion( "SNOMEDCT_US:55197001") AnnotationAssertion( "UMLS:C0011320") AnnotationAssertion(Annotation( ) "Dens invaginatus") @@ -117537,7 +116020,6 @@ SubClassOf( ) Annotation( "PMID:31468724") "Fusion of two adjacent teeth.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-11T02:13:26Z") -AnnotationAssertion( "MSH:D005671") AnnotationAssertion( "SNOMEDCT_US:1744008") AnnotationAssertion( "UMLS:C0016873") AnnotationAssertion(Annotation( ) Annotation( ) "Conjoined teeth") @@ -117554,7 +116036,6 @@ SubClassOf( "PMID:18167487") "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-11T02:17:04Z") -AnnotationAssertion( "MSH:D005671") AnnotationAssertion( "SNOMEDCT_US:1744008") AnnotationAssertion( "UMLS:C0016873") AnnotationAssertion(Annotation( ) "Fused teeth") @@ -117614,7 +116095,6 @@ SubClassOf( ) Annotation( "PMID:31468724") "Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-11T05:13:34Z") -AnnotationAssertion( "MSH:D057887") AnnotationAssertion( "SNOMEDCT_US:10816007") AnnotationAssertion( "SNOMEDCT_US:251293001") AnnotationAssertion( "SNOMEDCT_US:60476005") @@ -117637,7 +116117,6 @@ SubClassOf( ) "An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-11T05:15:43Z") -AnnotationAssertion( "MSH:D057887") AnnotationAssertion( "SNOMEDCT_US:251292006") AnnotationAssertion( "SNOMEDCT_US:70305005") AnnotationAssertion( "UMLS:C0596028") @@ -117671,7 +116150,6 @@ SubClassOf( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:28276060") "A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-05-04T01:56:31Z") -AnnotationAssertion( "MSH:D013036") AnnotationAssertion( "SNOMEDCT_US:28055006") AnnotationAssertion( "UMLS:C0037769") AnnotationAssertion( "UMLS:C1527366") @@ -117691,7 +116169,6 @@ SubClassOf( ) "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-05-15T08:57:11Z") -AnnotationAssertion( "MSH:D001072") AnnotationAssertion( "SNOMEDCT_US:361276003") AnnotationAssertion( "SNOMEDCT_US:361277007") AnnotationAssertion( "SNOMEDCT_US:74227009") @@ -117710,7 +116187,6 @@ SubClassOf( ) "Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-04T09:10:40Z") -AnnotationAssertion( "MSH:D006429") AnnotationAssertion( "SNOMEDCT_US:79633009") AnnotationAssertion( "UMLS:C0154694") AnnotationAssertion( "Spastic hemiplegia") @@ -117725,7 +116201,6 @@ SubClassOf( ) "An abnormal closure, or atresia of the tubular structure of the intestine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-04T09:16:25Z") -AnnotationAssertion( "MSH:D007409") AnnotationAssertion( "UMLS:C0021828") AnnotationAssertion( "HP:0011100") AnnotationAssertion(rdfs:comment "Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen.") @@ -117787,7 +116262,6 @@ SubClassOf( ) "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T11:18:54Z") -AnnotationAssertion( "MSH:D020896") AnnotationAssertion( "SNOMEDCT_US:28560003") AnnotationAssertion( "UMLS:C0546884") AnnotationAssertion(Annotation( ) Annotation( ) "Depleted blood volume") @@ -117800,7 +116274,6 @@ SubClassOf( ) "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-08T07:11:09Z") -AnnotationAssertion( "MSH:D013281") AnnotationAssertion( "SNOMEDCT_US:110426005") AnnotationAssertion( "SNOMEDCT_US:398870000") AnnotationAssertion( "SNOMEDCT_US:426965005") @@ -117853,7 +116326,6 @@ SubClassOf( ) Annotation( "PMID:15897415") "Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-10T07:46:38Z") -AnnotationAssertion( "MSH:D014069") AnnotationAssertion( "SNOMEDCT_US:90176007") AnnotationAssertion( "UMLS:C0040425") AnnotationAssertion(Annotation( ) Annotation( ) "Recurrent inflammation of tonsils") @@ -118045,7 +116517,6 @@ AnnotationAssertion( AnnotationAssertion( "HP:0002727") AnnotationAssertion( "HP:0007423") AnnotationAssertion( "MP:0004947") -AnnotationAssertion( "MSH:D003872") AnnotationAssertion( "SNOMEDCT_US:703938007") AnnotationAssertion( "UMLS:C0011603") AnnotationAssertion( "UMLS:C3875321") @@ -118286,7 +116757,6 @@ SubClassOf( ) Annotation( "PMID:15708105") "A type of age-related cataract that primarily affects the nucleus of the lens.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-27T09:49:20Z") -AnnotationAssertion( "MSH:C563333") AnnotationAssertion( "UMLS:C1832423") AnnotationAssertion( "HP:0011142") AnnotationAssertion(rdfs:comment "As the lens ages, new layers of fibers are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly.") @@ -118343,7 +116813,6 @@ SubClassOf( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:28276060") Annotation( "PMID:28276062") Annotation( "PMID:28276064") Annotation( "PMID:6790275") "A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-10-18T01:52:22Z") -AnnotationAssertion( "MSH:D004832") AnnotationAssertion( "SNOMEDCT_US:230413002") AnnotationAssertion( "SNOMEDCT_US:432241000124101") AnnotationAssertion( "SNOMEDCT_US:50866000") @@ -118418,7 +116887,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:11580774") Annotation( "PMID:28276060") Annotation( "PMID:28276064") "A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-10-18T02:33:17Z") -AnnotationAssertion( "MSH:D020938") AnnotationAssertion( "SNOMEDCT_US:128612007") AnnotationAssertion( "SNOMEDCT_US:82401000") AnnotationAssertion( "UMLS:C0016399") @@ -118471,7 +116939,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) Annotation( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:28276060") Annotation( "PMID:28276062") Annotation( "PMID:28276064") "A focal sensory seizure is a type seizure beginning with a subjective sensation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-10-18T02:26:40Z") -AnnotationAssertion( "MSH:D004827") AnnotationAssertion( "SNOMEDCT_US:18618006") AnnotationAssertion( "UMLS:C0236018") AnnotationAssertion(Annotation( ) "Focal sensory seizures") @@ -118521,7 +116988,6 @@ SubClassOf( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:28276060") "A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-10-18T02:28:36Z") -AnnotationAssertion( "MSH:D006212") AnnotationAssertion( "SNOMEDCT_US:29139005") AnnotationAssertion( "UMLS:C0233766") AnnotationAssertion( "Focal gustatory seizure") @@ -118627,7 +117093,6 @@ SubClassOf( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:11580774") Annotation( "PMID:28276060") Annotation( "PMID:28276064") "A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-10-18T02:35:03Z") -AnnotationAssertion( "MSH:D020938") AnnotationAssertion( "UMLS:C0752324") AnnotationAssertion(Annotation( ) "Focal tonic seizures") AnnotationAssertion(Annotation( ) Annotation( ) "Local tonic seizures") @@ -118677,7 +117142,6 @@ SubClassOf( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:28276060") Annotation( "PMID:28276064") "A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-11-19T10:00:46Z") -AnnotationAssertion( "MSH:D004831") AnnotationAssertion( "SNOMEDCT_US:230421008") AnnotationAssertion( "UMLS:C0393702") AnnotationAssertion( "Generalised myoclonic-atonic seizure") @@ -118693,7 +117157,6 @@ SubClassOf( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:19125841") Annotation( "PMID:6779259") Annotation( "PMID:972656") "A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-11-19T10:09:04Z") -AnnotationAssertion( "MSH:D003294") AnnotationAssertion( "SNOMEDCT_US:432354000") AnnotationAssertion( "UMLS:C0149886") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/febrile_seizure") "Simple febrile convulsion") @@ -118709,7 +117172,6 @@ SubClassOf( "HPO_CONTRIBUTOR:jalbers") Annotation( "PMID:19125841") Annotation( "PMID:972656") "A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-11-19T10:10:00Z") -AnnotationAssertion( "MSH:D003294") AnnotationAssertion( "SNOMEDCT_US:433083002") AnnotationAssertion( "UMLS:C0751057") AnnotationAssertion( "Complex febrile convulsion") @@ -118762,7 +117224,6 @@ SubClassOf( "HPO_CONTRIBUTOR:jalbers") "A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-11-19T10:14:54Z") -AnnotationAssertion( "MSH:D020938") AnnotationAssertion( "SNOMEDCT_US:246530009") AnnotationAssertion( "UMLS:C0422846") AnnotationAssertion( "Versive seizure") @@ -119989,7 +118450,6 @@ SubClassOf( ) AnnotationAssertion( "2011-12-29T08:52:53Z") -AnnotationAssertion( "MSH:D017445") AnnotationAssertion( "SNOMEDCT_US:11263005") AnnotationAssertion( "UMLS:C0162819") AnnotationAssertion( "UMLS:C1842892") @@ -120114,7 +118574,6 @@ SubClassOf( ) "A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-01-01T03:03:46Z") -AnnotationAssertion( "MSH:D006627") AnnotationAssertion( "SNOMEDCT_US:253780003") AnnotationAssertion( "SNOMEDCT_US:360441005") AnnotationAssertion( "UMLS:C0085758") @@ -120673,8 +119132,6 @@ SubClassOf( ) "Premature fusion of the metopic suture.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-02-25T03:52:01Z") -AnnotationAssertion( "MSH:C562951") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:109409003") AnnotationAssertion( "UMLS:C0432122") AnnotationAssertion( "UMLS:C1860819") @@ -120690,7 +119147,6 @@ SubClassOf( ) "Unilateral atrophy of facial tissues, including muscles, bones and skin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-02-25T05:04:56Z") -AnnotationAssertion( "MSH:D005150") AnnotationAssertion( "SNOMEDCT_US:718224004") AnnotationAssertion( "SNOMEDCT_US:95834000") AnnotationAssertion( "UMLS:C0015458") @@ -120707,7 +119163,6 @@ SubClassOf( ) "Unilateral underdevelopment of the facial tissues, including muscles and bones.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-02-25T05:05:45Z") -AnnotationAssertion( "MSH:D006053") AnnotationAssertion( "SNOMEDCT_US:254025006") AnnotationAssertion( "UMLS:C3495417") AnnotationAssertion( "UMLS:C4023411") @@ -120727,7 +119182,6 @@ SubClassOf( ) "Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-02-25T05:07:01Z") -AnnotationAssertion( "MSH:C535349") AnnotationAssertion( "SNOMEDCT_US:51409009") AnnotationAssertion( "UMLS:C0431406") AnnotationAssertion( "UMLS:C4280327") @@ -121166,7 +119620,6 @@ SubClassOf( ) "Congenital deep dermal melanosis in the sacral area.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-03T03:34:48Z") -AnnotationAssertion( "MSH:D049328") AnnotationAssertion( "SNOMEDCT_US:40467008") AnnotationAssertion( "UMLS:C0265985") AnnotationAssertion( "HP:0011369") @@ -121382,7 +119835,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_mbitner-glidicz") "Increased size of the vestibular aqueduct.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-09T07:38:34Z") -AnnotationAssertion( "MSH:C566366") AnnotationAssertion( "UMLS:C1863752") AnnotationAssertion( "Dilated vestibular aqueduct") AnnotationAssertion( "Widened vestibular aqueduct") @@ -121686,7 +120138,6 @@ SubClassOf( ) "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-15T09:59:31Z") -AnnotationAssertion( "MSH:D014620") AnnotationAssertion( "SNOMEDCT_US:10761101000119105") AnnotationAssertion( "SNOMEDCT_US:61586001") AnnotationAssertion( "UMLS:C0042225") @@ -121763,7 +120214,6 @@ SubClassOf( "Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-15T10:15:01Z") -AnnotationAssertion( "MSH:D055949") AnnotationAssertion( "SNOMEDCT_US:79668009") AnnotationAssertion( "UMLS:C0269852") AnnotationAssertion( "HP:0011418") @@ -121775,7 +120225,6 @@ SubClassOf( ) "Separation of the placenta from the uterus wall before delivery.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-15T11:08:18Z") -AnnotationAssertion( "MSH:D000037") AnnotationAssertion( "SNOMEDCT_US:405736009") AnnotationAssertion( "SNOMEDCT_US:415105001") AnnotationAssertion( "UMLS:C0000832") @@ -122093,7 +120542,6 @@ SubClassOf( ) "A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-18T03:30:10Z") -AnnotationAssertion( "MSH:D003655") AnnotationAssertion( "SNOMEDCT_US:36423000") AnnotationAssertion( "UMLS:C0231521") AnnotationAssertion( "HP:0011444") @@ -122106,7 +120554,6 @@ SubClassOf( ) "A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-18T03:53:04Z") -AnnotationAssertion( "MSH:D002547") AnnotationAssertion( "SNOMEDCT_US:230780007") AnnotationAssertion( "SNOMEDCT_US:75019001") AnnotationAssertion( "UMLS:C0270742") @@ -122141,7 +120588,6 @@ SubClassOf( ) "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-18T04:44:22Z") -AnnotationAssertion( "MSH:D010381") AnnotationAssertion( "SNOMEDCT_US:85559002") AnnotationAssertion( "UMLS:C0030779") AnnotationAssertion( "UMLS:C4023351") @@ -122187,7 +120633,6 @@ SubClassOf( "A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-18T05:57:29Z") -AnnotationAssertion( "MSH:D002494") AnnotationAssertion( "SNOMEDCT_US:128117002") AnnotationAssertion( "UMLS:C0007684") AnnotationAssertion(Annotation( ) Annotation( ) "Central nervous system infection") @@ -122405,7 +120850,6 @@ SubClassOf( ) "A developmental defect in which the gallbladder fails to form.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-03-25T07:41:14Z") -AnnotationAssertion( "MSH:C562564") AnnotationAssertion( "SNOMEDCT_US:86507001") AnnotationAssertion( "UMLS:C0266251") AnnotationAssertion(Annotation( ) "Absent gallbladder") @@ -122779,7 +121223,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_ncarter") Annotation( "PMID:22898649") "Ingrowth of new blood vessels into the cornea.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-03T07:15:37Z") -AnnotationAssertion( "MSH:D016510") AnnotationAssertion( "SNOMEDCT_US:19161004") AnnotationAssertion( "UMLS:C0085109") AnnotationAssertion(Annotation( ) "Corneal neovascularisation") @@ -122821,7 +121264,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:DDD_ncarter") "Abnormal dilatation of the iris.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-03T07:49:21Z") -AnnotationAssertion( "MSH:D015878") AnnotationAssertion( "SNOMEDCT_US:37125009") AnnotationAssertion( "UMLS:C0026961") AnnotationAssertion(Annotation( ) Annotation( ) "Dilated pupil") @@ -122882,7 +121324,6 @@ SubClassOf( ) "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T08:57:53Z") -AnnotationAssertion( "MSH:C537833") AnnotationAssertion( "SNOMEDCT_US:312958000") AnnotationAssertion( "SNOMEDCT_US:424169002") AnnotationAssertion( "UMLS:C0730330") @@ -122897,7 +121338,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_ncarter") "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T09:12:59Z") -AnnotationAssertion( "MSH:D008269") AnnotationAssertion( "SNOMEDCT_US:193387007") AnnotationAssertion( "UMLS:C0024440") AnnotationAssertion( "Cystoid macular edema") @@ -122934,7 +121374,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_ncarter") "A macular hole is a small break in the macula, located in the center of the retina.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T09:39:58Z") -AnnotationAssertion( "MSH:D012167") AnnotationAssertion( "SNOMEDCT_US:232006002") AnnotationAssertion( "UMLS:C0024441") AnnotationAssertion( "HP:0011508") @@ -123029,7 +121468,6 @@ SubClassOf( ) Annotation( "PMID:12015282") "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T06:40:03Z") -AnnotationAssertion( "MSH:C536021") AnnotationAssertion( "SNOMEDCT_US:102450007") AnnotationAssertion( "UMLS:C0302129") AnnotationAssertion( "Rod monochromacy") @@ -123077,7 +121515,6 @@ SubClassOf( ) "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T07:14:19Z") -AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:246674000") AnnotationAssertion( "SNOMEDCT_US:77479002") AnnotationAssertion( "UMLS:C0155016") @@ -123094,7 +121531,6 @@ SubClassOf( ) "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T07:34:40Z") -AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:246674000") AnnotationAssertion( "SNOMEDCT_US:77479002") AnnotationAssertion( "UMLS:C0155016") @@ -123110,7 +121546,6 @@ SubClassOf( ) "Blue and green cones only; no functional red cones.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T07:45:06Z") -AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:51445007") AnnotationAssertion( "UMLS:C0155015") AnnotationAssertion(Annotation( ) Annotation( ) "Red-blind") @@ -123211,7 +121646,6 @@ SubClassOf( ) "A small break in the retina.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-06T09:39:01Z") -AnnotationAssertion( "MSH:D012167") AnnotationAssertion( "SNOMEDCT_US:232003005") AnnotationAssertion( "SNOMEDCT_US:302888003") AnnotationAssertion( "SNOMEDCT_US:40024006") @@ -123253,7 +121687,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_ncarter") Annotation( "PMID:18179896") "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-07T09:52:37Z") -AnnotationAssertion( "MSH:C536677") AnnotationAssertion( "UMLS:C1860405") AnnotationAssertion( "Snowflake retinal degeneration") AnnotationAssertion( "HP:0011533") @@ -123289,7 +121722,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_dbrown") Annotation( "PMID:3408620") "Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-07T10:36:52Z") -AnnotationAssertion( "MSH:D059446") AnnotationAssertion( "UMLS:C3178806") AnnotationAssertion( "HP:0011536") AnnotationAssertion(rdfs:label "Right atrial isomerism") @@ -123303,7 +121735,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-07T10:37:51Z") AnnotationAssertion( "EPCC:03.01.05") AnnotationAssertion( "ICD-10:Q20.6") -AnnotationAssertion( "MSH:D059446") AnnotationAssertion( "UMLS:C3178807") AnnotationAssertion( "HP:0011537") AnnotationAssertion(rdfs:comment "Left and right hand side atria have left atrial morphology.") @@ -123345,7 +121776,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-07T10:48:56Z") AnnotationAssertion( "EPCC:01.01.03") AnnotationAssertion( "ICD-10:Q20.5") -AnnotationAssertion( "MSH:C535426") AnnotationAssertion( "SNOMEDCT_US:56743000") AnnotationAssertion( "SNOMEDCT_US:83799000") AnnotationAssertion( "UMLS:C0232301") @@ -123667,7 +122097,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-08T08:15:24Z") AnnotationAssertion( "Fyler:2010") AnnotationAssertion( "ICD-10:Q21.1") -AnnotationAssertion( "MSH:C548009") AnnotationAssertion( "SNOMEDCT_US:95268002") AnnotationAssertion( "UMLS:C0344730") AnnotationAssertion( "HP:0011567") @@ -124084,7 +122513,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-04-08T02:52:38Z") AnnotationAssertion( "Fyler:0560") AnnotationAssertion( "Fyler:560") -AnnotationAssertion( "MSH:D001028") AnnotationAssertion( "SNOMEDCT_US:17024001") AnnotationAssertion( "UMLS:C0003516") AnnotationAssertion( "HP:0011604") @@ -124344,7 +122772,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-04-08T09:57:11Z") AnnotationAssertion( "ICD-10:Q26.8") -AnnotationAssertion( "MSH:D012587") AnnotationAssertion( "SNOMEDCT_US:111323005") AnnotationAssertion( "SNOMEDCT_US:39905002") AnnotationAssertion( "UMLS:C0036400") @@ -124777,7 +123204,6 @@ AnnotationAssertion( "Fyler:0400") AnnotationAssertion( "Fyler:400") AnnotationAssertion( "ICD-10:Q22.4") -AnnotationAssertion( "MSH:D018785") AnnotationAssertion( "SNOMEDCT_US:253455004") AnnotationAssertion( "SNOMEDCT_US:63042009") AnnotationAssertion( "UMLS:C0243002") @@ -124818,7 +123244,6 @@ SubClassOf( "PMID:17916581") "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-09T11:39:40Z") -AnnotationAssertion( "MSH:D054549") AnnotationAssertion( "SNOMEDCT_US:441541008") AnnotationAssertion( "UMLS:C1739395") AnnotationAssertion(Annotation( ) Annotation( ) "Broken-heart syndrome") @@ -124937,8 +123362,6 @@ AnnotationAssertion( "HP:0001721") AnnotationAssertion( "HP:0004351") AnnotationAssertion( "HP:0005158") -AnnotationAssertion( "MSH:C562490") -AnnotationAssertion( "MSH:D001145") AnnotationAssertion( "SNOMEDCT_US:102594003") AnnotationAssertion( "SNOMEDCT_US:44808001") AnnotationAssertion( "SNOMEDCT_US:698247007") @@ -125227,7 +123650,6 @@ SubClassOf( "PMID:4019927") "Chronic supraventricular tachycardia predominantly seen in childhood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-10T11:19:33Z") -AnnotationAssertion( "MSH:D013612") AnnotationAssertion( "SNOMEDCT_US:233892002") AnnotationAssertion( "UMLS:C0039234") AnnotationAssertion( "HP:0011700") @@ -125263,7 +123685,6 @@ SubClassOf( "Heart rate of greater than 100 beats per minute.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-10T11:30:45Z") -AnnotationAssertion( "MSH:D013616") AnnotationAssertion( "SNOMEDCT_US:11092001") AnnotationAssertion( "UMLS:C0039239") AnnotationAssertion(Annotation( ) "Sinus tach") @@ -125277,7 +123698,6 @@ SubClassOf( "PMID:17420362") "An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-10T11:31:17Z") -AnnotationAssertion( "MSH:D012804") AnnotationAssertion( "SNOMEDCT_US:36083008") AnnotationAssertion( "UMLS:C0037052") AnnotationAssertion( "Sinoatrial node disease") @@ -125341,7 +123761,6 @@ SubClassOf( ) "Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-11T07:46:37Z") -AnnotationAssertion( "MSH:D006327") AnnotationAssertion( "SNOMEDCT_US:50799005") AnnotationAssertion( "UMLS:C0004331") AnnotationAssertion( "HP:0011709") @@ -125354,7 +123773,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:DDD_dbrown") "Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-11T07:55:50Z") -AnnotationAssertion( "MSH:D002037") AnnotationAssertion( "SNOMEDCT_US:6374002") AnnotationAssertion( "UMLS:C0006384") AnnotationAssertion( "Bundle-branch block") @@ -125380,7 +123798,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:DDD_dbrown") "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-11T08:02:08Z") -AnnotationAssertion( "MSH:D002037") AnnotationAssertion( "SNOMEDCT_US:59118001") AnnotationAssertion( "UMLS:C0085615") AnnotationAssertion( "Right bundle-branch block") @@ -125393,7 +123810,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:DDD_dbrown") "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-11T08:04:34Z") -AnnotationAssertion( "MSH:D002037") AnnotationAssertion( "SNOMEDCT_US:63467002") AnnotationAssertion( "UMLS:C0023211") AnnotationAssertion( "HP:0011713") @@ -125427,7 +123843,6 @@ SubClassOf( "PMID:22826742") "Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-11T08:42:28Z") -AnnotationAssertion( "MSH:D013613") AnnotationAssertion( "SNOMEDCT_US:233901002") AnnotationAssertion( "SNOMEDCT_US:419166005") AnnotationAssertion( "UMLS:C0039235") @@ -125536,7 +123951,6 @@ SubClassOf( "PMID:10859296") Annotation( "PMID:16322929") "Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-11T08:59:07Z") -AnnotationAssertion( "MSH:C536932") AnnotationAssertion( "SNOMEDCT_US:2829000") AnnotationAssertion( "UMLS:C0265857") AnnotationAssertion( "HP:0011724") @@ -125557,7 +123971,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_dbrown") "Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-11T09:02:26Z") -AnnotationAssertion( "MSH:D010547") AnnotationAssertion( "SNOMEDCT_US:206597007") AnnotationAssertion( "SNOMEDCT_US:233815004") AnnotationAssertion( "SNOMEDCT_US:35604006") @@ -125675,7 +124088,6 @@ SubClassOf( ) "A form of hyperaldosteronism caused by a defect within the adrenal gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-21T09:26:05Z") -AnnotationAssertion( "MSH:D006929") AnnotationAssertion( "SNOMEDCT_US:190507007") AnnotationAssertion( "SNOMEDCT_US:258117004") AnnotationAssertion( "UMLS:C1384514") @@ -125764,7 +124176,6 @@ SubClassOf( ) "Absent development of the adrenal gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-21T09:46:49Z") -AnnotationAssertion( "MSH:C538429") AnnotationAssertion( "SNOMEDCT_US:702615004") AnnotationAssertion( "SNOMEDCT_US:83190008") AnnotationAssertion( "UMLS:C0266273") @@ -125812,7 +124223,6 @@ SubClassOf( ) "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-22T11:17:00Z") -AnnotationAssertion( "MSH:D010900") AnnotationAssertion( "SNOMEDCT_US:399244003") AnnotationAssertion( "UMLS:C0032002") AnnotationAssertion( "UMLS:C4023206") @@ -125827,7 +124237,6 @@ SubClassOf( ) "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-22T11:27:04Z") -AnnotationAssertion( "MSH:C535668") AnnotationAssertion( "SNOMEDCT_US:237692001") AnnotationAssertion( "UMLS:C0342388") AnnotationAssertion( "ACTH deficiency") @@ -126014,7 +124423,6 @@ SubClassOf( ) Annotation( "NCIT:C4536") Annotation( "PMID:15741248") "A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-22T03:52:30Z") -AnnotationAssertion( "MSH:D010911") AnnotationAssertion( "SNOMEDCT_US:128665000") AnnotationAssertion( "SNOMEDCT_US:254955001") AnnotationAssertion( "UMLS:C0346300") @@ -126137,7 +124545,6 @@ SubClassOf( ) AnnotationAssertion( "2012-04-22T06:01:31Z") -AnnotationAssertion( "MSH:D013964") AnnotationAssertion( "SNOMEDCT_US:255033000") AnnotationAssertion( "SNOMEDCT_US:255034006") AnnotationAssertion( "UMLS:C0151468") @@ -126185,7 +124592,6 @@ SubClassOf( ) AnnotationAssertion( "2012-04-22T06:02:52Z") -AnnotationAssertion( "MSH:D065646") AnnotationAssertion( "SNOMEDCT_US:255031003") AnnotationAssertion( "UMLS:C0238461") AnnotationAssertion( "HP:0011779") @@ -126219,7 +124625,6 @@ SubClassOf( ) AnnotationAssertion( "2012-04-22T06:10:37Z") -AnnotationAssertion( "MSH:D013958") AnnotationAssertion( "SNOMEDCT_US:29028009") AnnotationAssertion( "UMLS:C0040127") AnnotationAssertion( "HP:0011782") @@ -126397,7 +124802,6 @@ SubClassOf( ) "A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-22T08:13:36Z") -AnnotationAssertion( "MSH:C537750") AnnotationAssertion( "SNOMEDCT_US:254922006") AnnotationAssertion( "UMLS:C0346255") AnnotationAssertion( "HP:0011798") @@ -126478,7 +124882,6 @@ SubClassOf( "PMID:19152422") "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-25T08:09:58Z") -AnnotationAssertion( "MSH:C535441") AnnotationAssertion( "SNOMEDCT_US:204521002") AnnotationAssertion( "UMLS:C0221363") AnnotationAssertion( "UMLS:C4280318") @@ -126618,7 +125021,6 @@ SubClassOf( ) Annotation( "PMID:24931720") "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-04-29T09:04:09Z") -AnnotationAssertion( "MSH:D004677") AnnotationAssertion( "SNOMEDCT_US:253101008") AnnotationAssertion( "SNOMEDCT_US:48777005") AnnotationAssertion( "SNOMEDCT_US:55999004") @@ -126996,7 +125398,6 @@ SubClassOf( ) "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-06T06:46:54Z") -AnnotationAssertion( "MSH:D054141") AnnotationAssertion( "SNOMEDCT_US:111288001") AnnotationAssertion( "UMLS:C0152173") AnnotationAssertion( "HP:0011841") @@ -127059,7 +125460,6 @@ SubClassOf( ) "A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-09T08:34:41Z") -AnnotationAssertion( "MSH:D018215") AnnotationAssertion( "SNOMEDCT_US:55333008") AnnotationAssertion( "UMLS:C0029417") AnnotationAssertion( "HP:0011846") @@ -127071,7 +125471,6 @@ SubClassOf( ) "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-09T08:35:52Z") -AnnotationAssertion( "MSH:D018212") AnnotationAssertion( "SNOMEDCT_US:57500000") AnnotationAssertion( "SNOMEDCT_US:697970009") AnnotationAssertion( "UMLS:C0206638") @@ -127085,7 +125484,6 @@ SubClassOf( "A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-12T07:17:45Z") -AnnotationAssertion( "MSH:D003085") AnnotationAssertion( "SNOMEDCT_US:9991008") AnnotationAssertion( "UMLS:C0232488") AnnotationAssertion( "HP:0011848") @@ -127113,7 +125511,6 @@ SubClassOf( ) "Inflammation of the parotid gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-21T10:33:44Z") -AnnotationAssertion( "MSH:D010309") AnnotationAssertion( "SNOMEDCT_US:14756005") AnnotationAssertion( "UMLS:C0030583") AnnotationAssertion( "HP:0011850") @@ -127125,7 +125522,6 @@ SubClassOf( ) Annotation( "PMID:10882282") "Accumulation of blood within the pericardial sac.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-21T10:43:03Z") -AnnotationAssertion( "MSH:D010490") AnnotationAssertion( "SNOMEDCT_US:23412002") AnnotationAssertion( "UMLS:C0019064") AnnotationAssertion( "HP:0011851") @@ -127137,7 +125533,6 @@ SubClassOf( ) "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-21T10:44:29Z") -AnnotationAssertion( "MSH:D010490") AnnotationAssertion( "SNOMEDCT_US:233890005") AnnotationAssertion( "UMLS:C0242426") AnnotationAssertion( "HP:0011852") @@ -127159,7 +125554,6 @@ SubClassOf( ) "Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-21T10:55:34Z") -AnnotationAssertion( "MSH:D006465") AnnotationAssertion( "SNOMEDCT_US:443826006") AnnotationAssertion( "SNOMEDCT_US:45626005") AnnotationAssertion( "UMLS:C0019065") @@ -127190,7 +125584,6 @@ SubClassOf( ) "An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-21T11:08:54Z") -AnnotationAssertion( "MSH:D010842") AnnotationAssertion( "SNOMEDCT_US:14077003") AnnotationAssertion( "UMLS:C0031873") AnnotationAssertion( "HP:0011856") @@ -127202,7 +125595,6 @@ SubClassOf( ) "A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-21T11:34:44Z") -AnnotationAssertion( "MSH:D010954") AnnotationAssertion( "SNOMEDCT_US:10639003") AnnotationAssertion( "SNOMEDCT_US:415112005") AnnotationAssertion( "UMLS:C0032131") @@ -127314,7 +125706,6 @@ SubClassOf( ) Annotation( "PMID:17872935") "Pain in the lower back and hip radiating in the distribution of the sciatic nerve.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-05-28T10:34:09Z") -AnnotationAssertion( "MSH:D012585") AnnotationAssertion( "SNOMEDCT_US:23056005") AnnotationAssertion( "UMLS:C0036396") AnnotationAssertion( "HP:0011868") @@ -127502,7 +125893,6 @@ SubClassOf( ) "Bleeding from vessels of the various tissues of the eye.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-02T10:44:39Z") -AnnotationAssertion( "MSH:D005130") AnnotationAssertion( "SNOMEDCT_US:417244000") AnnotationAssertion( "SNOMEDCT_US:93478000") AnnotationAssertion( "UMLS:C0015402") @@ -127519,7 +125909,6 @@ SubClassOf( ) "Bleeding in the anterior chamber of the eye.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-02T10:49:36Z") -AnnotationAssertion( "MSH:D006988") AnnotationAssertion( "SNOMEDCT_US:75229002") AnnotationAssertion( "UMLS:C0020581") AnnotationAssertion( "HP:0011886") @@ -127531,7 +125920,6 @@ SubClassOf( ) "Hemorrhage from the vessels of the choroid.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-02T10:50:39Z") -AnnotationAssertion( "MSH:D002832") AnnotationAssertion( "SNOMEDCT_US:122003") AnnotationAssertion( "UMLS:C0008522") AnnotationAssertion(Annotation( ) "Choroid haemorrhage") @@ -127581,7 +125969,6 @@ SubClassOf( ) "Significant maternal hemorrhage/blood loss following deilvery of a child.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-02T11:35:46Z") -AnnotationAssertion( "MSH:D006473") AnnotationAssertion( "SNOMEDCT_US:47821001") AnnotationAssertion( "UMLS:C0032797") AnnotationAssertion(Annotation( ) Annotation( ) "Bleeding post-delivery") @@ -127595,7 +125982,6 @@ SubClassOf( "The concentration of vitamin K in the blood circulation is below the lower limit of normal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-02T05:21:14Z") -AnnotationAssertion( "MSH:D014813") AnnotationAssertion( "SNOMEDCT_US:52675005") AnnotationAssertion( "UMLS:C0042880") AnnotationAssertion( "Low levels of vitamin K") @@ -127915,7 +126301,6 @@ SubClassOf( ) "Accumulation of pus in the pleural cavity.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-08T07:13:41Z") -AnnotationAssertion( "MSH:D016724") AnnotationAssertion( "SNOMEDCT_US:405950009") AnnotationAssertion( "SNOMEDCT_US:405951008") AnnotationAssertion( "SNOMEDCT_US:58554001") @@ -127930,7 +126315,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:DDD_tkuijpers") Annotation( "PMID:16623208") "A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-08T07:31:00Z") -AnnotationAssertion( "MSH:D006876") AnnotationAssertion( "SNOMEDCT_US:79231000") AnnotationAssertion( "UMLS:C0020312") AnnotationAssertion( "HP:0011920") @@ -128221,7 +126605,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:DDD_tkuijpers") Annotation( "PMID:20858818") "Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-18T07:55:41Z") -AnnotationAssertion( "MSH:D018549") AnnotationAssertion( "SNOMEDCT_US:129458007") AnnotationAssertion( "UMLS:C0242770") AnnotationAssertion(Annotation( ) "BOOP") @@ -128237,7 +126620,6 @@ SubClassOf( ) "Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-21T08:20:58Z") -AnnotationAssertion( "MSH:D001989") AnnotationAssertion( "SNOMEDCT_US:40100001") AnnotationAssertion( "UMLS:C0006272") AnnotationAssertion( "UMLS:C2350875") @@ -128253,7 +126635,6 @@ SubClassOf( ) "An infection of the upper or lower respiratory tract.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-21T08:26:36Z") -AnnotationAssertion( "MSH:D012141") AnnotationAssertion( "SNOMEDCT_US:275498002") AnnotationAssertion( "UMLS:C0035243") AnnotationAssertion(Annotation( ) "Respiratory infection") @@ -128289,7 +126670,6 @@ SubClassOf( "HPO_CONTRIBUTOR:DDD_tkuijpers") "Inflammation of the bronchioles.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-21T08:36:11Z") -AnnotationAssertion( "MSH:D001988") AnnotationAssertion( "SNOMEDCT_US:4120002") AnnotationAssertion( "UMLS:C0006271") AnnotationAssertion( "HP:0011950") @@ -128301,7 +126681,6 @@ SubClassOf( ) "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-06-21T08:40:03Z") -AnnotationAssertion( "MSH:D011015") AnnotationAssertion( "SNOMEDCT_US:422588002") AnnotationAssertion( "UMLS:C0032290") AnnotationAssertion( "HP:0011951") @@ -128383,7 +126762,6 @@ SubClassOf( ) "A small hole through the whole thickness of the retina.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-07T11:24:39Z") -AnnotationAssertion( "MSH:D012167") AnnotationAssertion( "SNOMEDCT_US:232003005") AnnotationAssertion( "SNOMEDCT_US:302888003") AnnotationAssertion( "SNOMEDCT_US:40024006") @@ -128536,7 +126914,6 @@ SubClassOf( ) Annotation( "PMID:21519520") "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-18T08:39:48Z") -AnnotationAssertion( "MSH:D016657") AnnotationAssertion( "SNOMEDCT_US:230724001") AnnotationAssertion( "UMLS:C0085220") AnnotationAssertion( "HP:0011970") @@ -128735,7 +127112,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-07-19T10:38:25Z") AnnotationAssertion(Annotation(rdfs:label "Ectopic ossification") "MEDDRA:10065453") -AnnotationAssertion( "MSH:D009999") AnnotationAssertion( "SNOMEDCT_US:128491006") AnnotationAssertion( "UMLS:C0029396") AnnotationAssertion( "Ectopic bone formation") @@ -128877,7 +127253,6 @@ SubClassOf( ) "An increased concentration of glucose in the blood following a meal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-19T12:07:59Z") -AnnotationAssertion( "MSH:D006943") AnnotationAssertion( "UMLS:C1855520") AnnotationAssertion( "HP:0011998") AnnotationAssertion(rdfs:label "Postprandial hyperglycemia") @@ -128895,7 +127270,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-19T01:00:23Z") -AnnotationAssertion( "MSH:D010259") AnnotationAssertion( "SNOMEDCT_US:191667009") AnnotationAssertion( "UMLS:C1456784") AnnotationAssertion(Annotation( ) "Paranoia") @@ -128970,7 +127344,6 @@ SubClassOf( ) "A subjective feeling that an experience which is occurring for the first time has been experienced before.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-20T11:54:16Z") -AnnotationAssertion( "MSH:D003690") AnnotationAssertion( "SNOMEDCT_US:313005") AnnotationAssertion( "UMLS:C0011194") AnnotationAssertion(Annotation( ) "Deja vu") @@ -129134,7 +127507,6 @@ SubClassOf( ) "Complete dislocation of the lens of the eye.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-26T10:40:02Z") -AnnotationAssertion( "MSH:D007906") AnnotationAssertion( "UMLS:C0023309") AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated lens") AnnotationAssertion(Annotation( ) Annotation( ) "Dislocated lenses") @@ -129174,7 +127546,6 @@ SubClassOf( ) "A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-26T10:16:40Z") -AnnotationAssertion( "MSH:C562830") AnnotationAssertion( "SNOMEDCT_US:253330006") AnnotationAssertion( "UMLS:C0344688") AnnotationAssertion( "HP:0012022") @@ -129199,7 +127570,6 @@ SubClassOf( ) "Elevated concentration of galactose in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-26T10:35:58Z") -AnnotationAssertion( "MSH:D005693") AnnotationAssertion( "SNOMEDCT_US:190745006") AnnotationAssertion( "SNOMEDCT_US:190749000") AnnotationAssertion( "UMLS:C0016952") @@ -129228,7 +127598,6 @@ SubClassOf( ) "Increased concentration of ornithine in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-26T10:49:54Z") -AnnotationAssertion( "MSH:D015799") AnnotationAssertion( "SNOMEDCT_US:276426004") AnnotationAssertion( "SNOMEDCT_US:33985005") AnnotationAssertion( "UMLS:C0599035") @@ -129243,7 +127612,6 @@ SubClassOf( ) "An abnormal accumulation of fluid and swelling in the tissues of the larynx.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-26T10:51:45Z") -AnnotationAssertion( "MSH:D007819") AnnotationAssertion( "SNOMEDCT_US:51599000") AnnotationAssertion( "UMLS:C0023052") AnnotationAssertion(Annotation( ) "Laryngeal oedema") @@ -129259,7 +127627,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-07-27T01:24:44Z") AnnotationAssertion(Annotation(rdfs:label "hepatocellular adenoma") "MPATH:353") -AnnotationAssertion( "MSH:D018248") AnnotationAssertion( "SNOMEDCT_US:424263008") AnnotationAssertion( "SNOMEDCT_US:78058005") AnnotationAssertion( "UMLS:C0206669") @@ -129298,7 +127665,6 @@ SubClassOf( ) AnnotationAssertion( "2012-07-27T01:32:28Z") AnnotationAssertion(Annotation(rdfs:label "lipomatous tumor") "MPATH:415") -AnnotationAssertion( "MSH:D018205") AnnotationAssertion( "SNOMEDCT_US:115227001") AnnotationAssertion( "SNOMEDCT_US:254827004") AnnotationAssertion( "SNOMEDCT_US:254831005") @@ -129315,7 +127681,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2012-07-27T01:33:13Z") AnnotationAssertion(Annotation(rdfs:label "Lipoma") "MEDDRA:10024612") AnnotationAssertion(Annotation(rdfs:label "lipoma") "MPATH:417") -AnnotationAssertion( "MSH:D008067") AnnotationAssertion( "SNOMEDCT_US:46720004") AnnotationAssertion( "SNOMEDCT_US:93163002") AnnotationAssertion( "UMLS:C0023798") @@ -129342,7 +127707,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-07-27T01:40:25Z") AnnotationAssertion(Annotation(rdfs:label "Liposarcoma") "MPATH:418") -AnnotationAssertion( "MSH:D008080") AnnotationAssertion( "SNOMEDCT_US:254829001") AnnotationAssertion( "SNOMEDCT_US:49430005") AnnotationAssertion( "UMLS:C0023827") @@ -129355,7 +127719,6 @@ SubClassOf( ) Annotation( "PMID:20631281") "Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-07-27T01:45:14Z") -AnnotationAssertion( "MSH:D062685") AnnotationAssertion( "SNOMEDCT_US:109433009") AnnotationAssertion( "UMLS:C0259771") AnnotationAssertion( "HP:0012035") @@ -129440,7 +127803,6 @@ SubClassOf( "PMID:12743549") "A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-01T11:22:04Z") -AnnotationAssertion( "MSH:D055963") AnnotationAssertion( "SNOMEDCT_US:407674008") AnnotationAssertion( "UMLS:C1319853") AnnotationAssertion(Annotation( ) "Aspirin-induced asthma") @@ -129453,7 +127815,6 @@ SubClassOf( ) "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-01T12:04:00Z") -AnnotationAssertion( "MSH:D009759") AnnotationAssertion( "SNOMEDCT_US:35743001") AnnotationAssertion( "UMLS:C0271388") AnnotationAssertion( "UMLS:C4020734") @@ -129468,7 +127829,6 @@ SubClassOf( ) "Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-01T12:06:36Z") -AnnotationAssertion( "MSH:D009759") AnnotationAssertion( "SNOMEDCT_US:95782001") AnnotationAssertion( "UMLS:C0344243") AnnotationAssertion( "HP:0012044") @@ -129504,7 +127864,6 @@ SubClassOf( ) "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-01T12:26:28Z") -AnnotationAssertion( "MSH:D014786") AnnotationAssertion( "SNOMEDCT_US:399323001") AnnotationAssertion( "UMLS:C0018975") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Day blindness") @@ -129542,7 +127901,6 @@ SubClassOf( ) "An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-01T12:53:48Z") -AnnotationAssertion( "MSH:D004487") AnnotationAssertion( "SNOMEDCT_US:16740003") AnnotationAssertion( "SNOMEDCT_US:442433009") AnnotationAssertion( "UMLS:C0151603") @@ -129557,7 +127915,6 @@ SubClassOf( ) "Hypoglycermia following a meal (or more generally, after intake of glucose).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-01T12:57:57Z") -AnnotationAssertion( "MSH:D007003") AnnotationAssertion( "SNOMEDCT_US:237638000") AnnotationAssertion( "SNOMEDCT_US:317006") AnnotationAssertion( "UMLS:C0271710") @@ -129626,7 +127983,6 @@ SubClassOf( ) "The presence of a melanoma of the skin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-01T02:04:21Z") -AnnotationAssertion( "MSH:D008545") AnnotationAssertion( "NCIT:C3224") AnnotationAssertion( "SNOMEDCT_US:2092003") AnnotationAssertion( "SNOMEDCT_US:372244006") @@ -129702,7 +128058,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-08-03T02:35:39Z") AnnotationAssertion( "HP:0100696") -AnnotationAssertion( "MSH:D001845") AnnotationAssertion( "SNOMEDCT_US:112643007") AnnotationAssertion( "SNOMEDCT_US:203465002") AnnotationAssertion( "SNOMEDCT_US:203467005") @@ -129720,7 +128075,6 @@ SubClassOf( ) Annotation( "PMID:22474093") Annotation( "PMID:7863874") "Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-03T02:35:52Z") -AnnotationAssertion( "MSH:D017824") AnnotationAssertion( "SNOMEDCT_US:203468000") AnnotationAssertion( "SNOMEDCT_US:76000001") AnnotationAssertion( "UMLS:C0152244") @@ -129781,7 +128135,6 @@ SubClassOf( ) "Excretion of excess amounts of aspartylglucosamine in the urine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-04T03:15:37Z") -AnnotationAssertion( "MSH:D054880") AnnotationAssertion( "SNOMEDCT_US:54954004") AnnotationAssertion( "UMLS:C0268225") AnnotationAssertion(Annotation( ) Annotation( ) "High urine aspartylglucosamine levels") @@ -129857,7 +128210,6 @@ SubClassOf( ) "An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-11T09:58:20Z") -AnnotationAssertion( "MSH:D015845") AnnotationAssertion( "SNOMEDCT_US:24225004") AnnotationAssertion( "UMLS:C0040416") AnnotationAssertion( "Adie pupil") @@ -129878,7 +128230,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "2012-08-11T02:20:27Z") AnnotationAssertion(Annotation(rdfs:label "Specific personality disorders") "ICD-10:F60") -AnnotationAssertion( "MSH:D010554") AnnotationAssertion( "SNOMEDCT_US:33449004") AnnotationAssertion( "UMLS:C0031212") AnnotationAssertion( "HP:0012075") @@ -129897,7 +128248,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "2012-08-11T02:26:02Z") AnnotationAssertion(Annotation(rdfs:label "Emotionally unstable personality disorder, borderline type") "ICD-10:F60.3") -AnnotationAssertion( "MSH:D001883") AnnotationAssertion( "SNOMEDCT_US:20010003") AnnotationAssertion( "UMLS:C0006012") AnnotationAssertion(Annotation( ) "BPD") @@ -129913,7 +128263,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2012-08-11T02:38:39Z") AnnotationAssertion(Annotation(rdfs:label "Histrionic personality disorder") "ICD-10:F60.4") -AnnotationAssertion( "MSH:D006677") AnnotationAssertion( "SNOMEDCT_US:55341008") AnnotationAssertion( "UMLS:C0019681") AnnotationAssertion( "HP:0012077") @@ -130000,7 +128349,6 @@ SubClassOf( ) Annotation( "PMID:25760357") "The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-20T09:10:26Z") -AnnotationAssertion( "MSH:D011776") AnnotationAssertion( "SNOMEDCT_US:275765006") AnnotationAssertion( "SNOMEDCT_US:4800001") AnnotationAssertion( "UMLS:C0034359") @@ -130057,7 +128405,6 @@ SubClassOf( ) "Arterial inflammation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-08-20T09:15:19Z") -AnnotationAssertion( "MSH:D001167") AnnotationAssertion( "SNOMEDCT_US:52089001") AnnotationAssertion( "UMLS:C0003860") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of artery") @@ -130291,7 +128638,6 @@ SubClassOf( ) Annotation( "PMID:11815354") "A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-10T05:17:24Z") -AnnotationAssertion( "MSH:C562750") AnnotationAssertion( "SNOMEDCT_US:77075001") AnnotationAssertion( "UMLS:C0339573") AnnotationAssertion( "Primary open angle glaucoma") @@ -130370,7 +128716,6 @@ SubClassOf( ) Annotation( "NCIT:C7558") "A carcinoma of the endometrium, the mucous lining of the uterus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T04:37:32Z") -AnnotationAssertion( "MSH:D016889") AnnotationAssertion( "SNOMEDCT_US:254878006") AnnotationAssertion( "UMLS:C0476089") AnnotationAssertion( "HP:0012114") @@ -130383,7 +128728,6 @@ SubClassOf( ) "Inflammation of the liver.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T05:03:29Z") -AnnotationAssertion( "MSH:D006505") AnnotationAssertion( "SNOMEDCT_US:128241005") AnnotationAssertion( "UMLS:C0019158") AnnotationAssertion(Annotation( ) "Liver inflammation") @@ -130439,7 +128783,6 @@ SubClassOf( ) "Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T05:42:35Z") -AnnotationAssertion( "MSH:D008708") AnnotationAssertion( "SNOMEDCT_US:131171006") AnnotationAssertion( "SNOMEDCT_US:38959009") AnnotationAssertion( "UMLS:C0025637") @@ -130452,7 +128795,6 @@ SubClassOf( ) "Increased concentration of methylmalonic acid in the urine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T06:02:23Z") -AnnotationAssertion( "MSH:C537358") AnnotationAssertion( "UMLS:C1855119") AnnotationAssertion(Annotation( ) "High blood methylmalonic acid levels") AnnotationAssertion( "Methymalonicaciduria") @@ -130467,7 +128809,6 @@ SubClassOf( ) "Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T06:23:34Z") -AnnotationAssertion( "MSH:D015864") AnnotationAssertion( "SNOMEDCT_US:75614007") AnnotationAssertion( "UMLS:C0030343") AnnotationAssertion( "HP:0012121") @@ -130490,8 +128831,6 @@ SubClassOf( ) "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T06:25:06Z") -AnnotationAssertion( "MSH:D002833") -AnnotationAssertion( "MSH:D015866") AnnotationAssertion( "SNOMEDCT_US:16553002") AnnotationAssertion( "SNOMEDCT_US:43363007") AnnotationAssertion( "UMLS:C0008526") @@ -130506,7 +128845,6 @@ SubClassOf( ) "Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T06:25:53Z") -AnnotationAssertion( "MSH:D015867") AnnotationAssertion( "SNOMEDCT_US:314429009") AnnotationAssertion( "UMLS:C0042166") AnnotationAssertion( "HP:0012124") @@ -130518,7 +128856,6 @@ SubClassOf( ) "A cancer of the prostate.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T06:33:32Z") -AnnotationAssertion( "MSH:D011471") AnnotationAssertion( "SNOMEDCT_US:399068003") AnnotationAssertion( "UMLS:C0376358") AnnotationAssertion( "Prostatic cancer") @@ -130613,7 +128950,6 @@ SubClassOf( ) "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T07:21:19Z") -AnnotationAssertion( "MSH:D000741") AnnotationAssertion( "SNOMEDCT_US:167923006") AnnotationAssertion( "SNOMEDCT_US:41614006") AnnotationAssertion( "UMLS:C0178416") @@ -130795,7 +129131,6 @@ SubClassOf( ) "The presence of blood in the pleural space.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-16T08:58:32Z") -AnnotationAssertion( "MSH:D006491") AnnotationAssertion( "SNOMEDCT_US:31892009") AnnotationAssertion( "UMLS:C0019123") AnnotationAssertion( "HP:0012151") @@ -130839,7 +129174,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-09-20T06:51:36Z") -AnnotationAssertion( "MSH:D059445") AnnotationAssertion( "SNOMEDCT_US:247796005") AnnotationAssertion( "SNOMEDCT_US:28669007") AnnotationAssertion( "UMLS:C0178417") @@ -130902,7 +129236,6 @@ SubClassOf( ) "A separation (dissection) of the layers of the internal carotid artery wall.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-16T07:22:28Z") -AnnotationAssertion( "MSH:D020215") AnnotationAssertion( "SNOMEDCT_US:705066004") AnnotationAssertion( "UMLS:C0751815") AnnotationAssertion( "HP:0012159") @@ -130957,7 +129290,6 @@ SubClassOf( ) "A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-16T10:20:08Z") -AnnotationAssertion( "MSH:D020820") AnnotationAssertion( "SNOMEDCT_US:32838008") AnnotationAssertion( "UMLS:C0232766") AnnotationAssertion( "HP:0012164") @@ -130994,7 +129326,6 @@ SubClassOf( ) "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-20T07:16:10Z") -AnnotationAssertion( "MSH:D014256") AnnotationAssertion( "SNOMEDCT_US:17155009") AnnotationAssertion( "UMLS:C0040953") AnnotationAssertion( "Trichotillomania") @@ -131012,7 +129343,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-20T09:33:57Z") -AnnotationAssertion( "MSH:D019956") AnnotationAssertion( "SNOMEDCT_US:43954004") AnnotationAssertion( "UMLS:C0018672") AnnotationAssertion( "HP:0012168") @@ -131045,7 +129375,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion( "2013-02-20T09:40:31Z") AnnotationAssertion( "ICD-10:F98.8") -AnnotationAssertion( "MSH:D009259") AnnotationAssertion( "SNOMEDCT_US:37298006") AnnotationAssertion( "UMLS:C0027338") AnnotationAssertion(Annotation( ) "Nail-biting") @@ -131106,7 +129435,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-02-23T09:47:02Z") AnnotationAssertion( "HP:0100843") -AnnotationAssertion( "MSH:D005909") AnnotationAssertion( "SNOMEDCT_US:393563007") AnnotationAssertion( "SNOMEDCT_US:63634009") AnnotationAssertion( "UMLS:C1621958") @@ -131120,7 +129448,6 @@ SubClassOf( ) Annotation( "PMID:14976057") "Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-23T09:54:07Z") -AnnotationAssertion( "MSH:D020016") AnnotationAssertion( "SNOMEDCT_US:421527008") AnnotationAssertion( "UMLS:C0600433") AnnotationAssertion( "Activated protein C resistance") @@ -131187,7 +129514,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-02-23T10:17:16Z") AnnotationAssertion( "HP:0200145") -AnnotationAssertion( "MSH:C536230") AnnotationAssertion( "SNOMEDCT_US:234021009") AnnotationAssertion( "SNOMEDCT_US:42182000") AnnotationAssertion( "SNOMEDCT_US:45894003") @@ -131203,7 +129529,6 @@ SubClassOf( ) "Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-23T10:20:59Z") -AnnotationAssertion( "MSH:D009408") AnnotationAssertion( "SNOMEDCT_US:45781009") AnnotationAssertion( "UMLS:C1510429") AnnotationAssertion( "HP:0012181") @@ -131238,7 +129563,6 @@ SubClassOf( ) "An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-24T09:14:45Z") -AnnotationAssertion( "MSH:C564591") AnnotationAssertion( "SNOMEDCT_US:238080004") AnnotationAssertion( "UMLS:C0342883") AnnotationAssertion(Annotation( ) "High blood HDL level") @@ -131290,7 +129614,6 @@ SubClassOf( ) Annotation( "OMIM:603373") "Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-24T09:58:18Z") -AnnotationAssertion( "MSH:D006939") AnnotationAssertion( "SNOMEDCT_US:14094001") AnnotationAssertion( "UMLS:C0020450") AnnotationAssertion( "HP:0012188") @@ -131302,7 +129625,6 @@ SubClassOf( ) "A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-27T06:53:11Z") -AnnotationAssertion( "MSH:D006689") AnnotationAssertion( "SNOMEDCT_US:118599009") AnnotationAssertion( "SNOMEDCT_US:118602004") AnnotationAssertion( "SNOMEDCT_US:118605002") @@ -131323,7 +129645,6 @@ SubClassOf( ) "A type of lymphoma that originates in T-cells.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-27T06:56:11Z") -AnnotationAssertion( "MSH:D016399") AnnotationAssertion( "SNOMEDCT_US:109978004") AnnotationAssertion( "SNOMEDCT_US:3172003") AnnotationAssertion( "UMLS:C0079772") @@ -131337,7 +129658,6 @@ SubClassOf( ) "A type of lymphoma that originates in B-cells.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-27T06:59:05Z") -AnnotationAssertion( "MSH:D016393") AnnotationAssertion( "SNOMEDCT_US:109979007") AnnotationAssertion( "SNOMEDCT_US:1929004") AnnotationAssertion( "SNOMEDCT_US:413616009") @@ -131352,7 +129672,6 @@ SubClassOf( ) "A type of T-cell lymphoma that exhibits malignant infiltration of the skin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-27T07:03:19Z") -AnnotationAssertion( "MSH:D016410") AnnotationAssertion( "SNOMEDCT_US:28054005") AnnotationAssertion( "SNOMEDCT_US:400122007") AnnotationAssertion( "UMLS:C0079773") @@ -131365,7 +129684,6 @@ SubClassOf( ) "A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-02-27T07:15:32Z") -AnnotationAssertion( "MSH:D017728") AnnotationAssertion( "SNOMEDCT_US:277637000") AnnotationAssertion( "SNOMEDCT_US:53237008") AnnotationAssertion( "UMLS:C0206180") @@ -131400,7 +129718,6 @@ SubClassOf( ) "An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-11T07:00:56Z") -AnnotationAssertion( "MSH:D002639") AnnotationAssertion( "SNOMEDCT_US:271824009") AnnotationAssertion( "SNOMEDCT_US:309155007") AnnotationAssertion( "UMLS:C0008039") @@ -131416,7 +129733,6 @@ SubClassOf( ) Annotation( "NCIT:C95598") "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-11T07:06:29Z") -AnnotationAssertion( "MSH:D007340") AnnotationAssertion( "SNOMEDCT_US:25324008") AnnotationAssertion( "SNOMEDCT_US:302822000") AnnotationAssertion( "UMLS:C0021670") @@ -131443,7 +129759,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-03-12T11:37:40Z") AnnotationAssertion(Annotation(rdfs:label "Cluster headache syndrome") "ICD-10:G44.0") -AnnotationAssertion( "MSH:D003027") AnnotationAssertion( "SNOMEDCT_US:193031009") AnnotationAssertion( "SNOMEDCT_US:193947008") AnnotationAssertion( "SNOMEDCT_US:230473009") @@ -131486,7 +129801,6 @@ SubClassOf( ) "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-12T12:08:30Z") -AnnotationAssertion( "MSH:D014009") AnnotationAssertion( "SNOMEDCT_US:414941008") AnnotationAssertion( "UMLS:C0040261") AnnotationAssertion( "HP:0012203") @@ -131508,7 +129822,6 @@ SubClassOf( ) Annotation( "MP:0002686") "Any structural anomaly of the acrosome resulting in a round sperm head.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-12T12:21:08Z") -AnnotationAssertion( "MSH:D000072660") AnnotationAssertion( "SNOMEDCT_US:236818008") AnnotationAssertion( "UMLS:C0403825") AnnotationAssertion( "HP:0012205") @@ -131557,7 +129870,6 @@ SubClassOf( ) Annotation( "PMID:18954903") "Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-12T12:27:41Z") -AnnotationAssertion( "MSH:D054429") AnnotationAssertion( "SNOMEDCT_US:128832006") AnnotationAssertion( "SNOMEDCT_US:277587001") AnnotationAssertion( "SNOMEDCT_US:445227008") @@ -131657,7 +129969,6 @@ SubClassOf( ) "The deposition of calcium phosphate microliths within the seminiferous tubules.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-14T08:07:36Z") -AnnotationAssertion( "MSH:C566478") AnnotationAssertion( "SNOMEDCT_US:117261000119108") AnnotationAssertion( "UMLS:C1864873") AnnotationAssertion( "HP:0012215") @@ -131693,7 +130004,6 @@ SubClassOf( ) Annotation( "PMID:11244503") "A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-30T06:48:50Z") -AnnotationAssertion( "MSH:D018234") AnnotationAssertion( "SNOMEDCT_US:404056007") AnnotationAssertion( "SNOMEDCT_US:88195001") AnnotationAssertion( "UMLS:C0206657") @@ -131706,7 +130016,6 @@ SubClassOf( ) "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-30T06:57:07Z") -AnnotationAssertion( "MSH:D004893") AnnotationAssertion( "SNOMEDCT_US:32861005") AnnotationAssertion( "UMLS:C0014743") AnnotationAssertion( "HP:0012219") @@ -131730,7 +130039,6 @@ SubClassOf( ) Annotation( "PMID:15265795") "A type of blistering that affects the skin of the tibial region.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-30T07:10:17Z") -AnnotationAssertion( "MSH:C535494") AnnotationAssertion( "SNOMEDCT_US:67653003") AnnotationAssertion( "UMLS:C0432321") AnnotationAssertion( "Pretibial epidermolysis bullosa") @@ -131753,7 +130061,6 @@ SubClassOf( ) "A breach of the capsule of the spleen.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-30T07:23:49Z") -AnnotationAssertion( "MSH:D013161") AnnotationAssertion( "SNOMEDCT_US:234506007") AnnotationAssertion( "UMLS:C0038000") AnnotationAssertion(Annotation( ) "Ruptured spleen") @@ -131817,7 +130124,6 @@ SubClassOf( ) "Narrowing of the urethra associated with inflammation or scar tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-30T07:37:46Z") -AnnotationAssertion( "MSH:D014525") AnnotationAssertion( "SNOMEDCT_US:236647003") AnnotationAssertion( "SNOMEDCT_US:76618002") AnnotationAssertion( "UMLS:C0041974") @@ -131832,7 +130138,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-03-30T07:50:13Z") AnnotationAssertion(Annotation(rdfs:label "Tension-type headache") "ICD-10:G44.2") -AnnotationAssertion( "MSH:D018781") AnnotationAssertion( "SNOMEDCT_US:398057008") AnnotationAssertion( "SNOMEDCT_US:66551002") AnnotationAssertion( "UMLS:C0033893") @@ -131846,7 +130151,6 @@ SubClassOf( ) "An increased white blood cell count in the cerebrospinal fluid.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-31T09:01:55Z") -AnnotationAssertion( "MSH:D007964") AnnotationAssertion( "SNOMEDCT_US:91454002") AnnotationAssertion( "UMLS:C0151857") AnnotationAssertion( "Cerebrospinal fluid pleocytosis") @@ -131948,7 +130252,6 @@ SubClassOf( ) "An increased concentration of urocanic acid in the urine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-31T09:54:48Z") -AnnotationAssertion( "MSH:C536479") AnnotationAssertion( "SNOMEDCT_US:60952007") AnnotationAssertion( "UMLS:C0268514") AnnotationAssertion(Annotation( ) Annotation( ) "High urine urocanic acid levels") @@ -131977,7 +130280,6 @@ SubClassOf( ) "Absence of transferrin, a protein that transports iron, in the blood.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-03-31T04:20:43Z") -AnnotationAssertion( "MSH:C538259") AnnotationAssertion( "SNOMEDCT_US:111571009") AnnotationAssertion( "UMLS:C0521802") AnnotationAssertion( "HP:0012239") @@ -132058,7 +130360,6 @@ SubClassOf( ) "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-04-02T07:15:18Z") -AnnotationAssertion( "MSH:D015840") AnnotationAssertion( "SNOMEDCT_US:388980004") AnnotationAssertion( "UMLS:C0028866") AnnotationAssertion( "Oculomotor neuropathy") @@ -132154,7 +130455,6 @@ SubClassOf( ) Annotation( "PMID:17272319") "A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-04-07T01:54:14Z") -AnnotationAssertion( "MSH:D012512") AnnotationAssertion( "SNOMEDCT_US:76909002") AnnotationAssertion( "UMLS:C0553580") AnnotationAssertion( "Ewing's sarcoma") @@ -132275,7 +130575,6 @@ SubClassOf( ) Annotation( "PMID:19606528") "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-04-07T10:14:07Z") -AnnotationAssertion( "MSH:D002925") AnnotationAssertion( "SNOMEDCT_US:86204009") AnnotationAssertion( "UMLS:C0008780") AnnotationAssertion( "Lack of coordinated beating of respiratory cilia") @@ -132310,7 +130609,6 @@ SubClassOf( ) "A liposarcoma that contains myxomatous tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-04-07T01:59:19Z") -AnnotationAssertion( "MSH:D018208") AnnotationAssertion( "SNOMEDCT_US:27849002") AnnotationAssertion( "SNOMEDCT_US:404069006") AnnotationAssertion( "UMLS:C0206634") @@ -132461,7 +130759,6 @@ SubClassOf( ) "Extravasation of chyle into the peritoneal cavity.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-04-07T04:08:42Z") -AnnotationAssertion( "MSH:D002915") AnnotationAssertion( "SNOMEDCT_US:52985009") AnnotationAssertion( "UMLS:C0008732") AnnotationAssertion( "Chyloperitoneum") @@ -132552,7 +130849,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-04-11T05:44:24Z") -AnnotationAssertion( "MSH:D006258") AnnotationAssertion( "SNOMEDCT_US:255055008") AnnotationAssertion( "SNOMEDCT_US:255056009") AnnotationAssertion( "UMLS:C0018671") @@ -132569,7 +130865,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the face.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-04-11T05:46:35Z") -AnnotationAssertion( "MSH:D005153") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126632002") AnnotationAssertion( "UMLS:C0015461") @@ -132729,7 +131024,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-04-14T02:43:10Z") AnnotationAssertion( "HP:0020098") -AnnotationAssertion( "MSH:D020803") AnnotationAssertion( "SNOMEDCT_US:428638009") AnnotationAssertion( "UMLS:C0276226") AnnotationAssertion( "Herpes encephalitis") @@ -132819,7 +131113,6 @@ SubClassOf( ) Annotation( "PMID:19690585") "The presence of amyloid deposition in the superficial dermis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-10T11:59:57Z") -AnnotationAssertion( "MSH:C562642") AnnotationAssertion( "SNOMEDCT_US:201337008") AnnotationAssertion( "SNOMEDCT_US:281882003") AnnotationAssertion( "SNOMEDCT_US:282834007") @@ -132899,7 +131192,6 @@ SubClassOf( ) "A neoplasm containing histiocytes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-10T12:30:05Z") -AnnotationAssertion( "MSH:D051642") AnnotationAssertion( "SNOMEDCT_US:128741006") AnnotationAssertion( "SNOMEDCT_US:302843004") AnnotationAssertion( "UMLS:C1509147") @@ -132912,7 +131204,6 @@ SubClassOf( ) "Any neoplasm composed of fibrous tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-10T12:31:38Z") -AnnotationAssertion( "MSH:D018218") AnnotationAssertion( "UMLS:C0206643") AnnotationAssertion( "HP:0012316") AnnotationAssertion(rdfs:label "Fibrous tissue neoplasm") @@ -132923,7 +131214,6 @@ SubClassOf( ) "Inflammation of the sacroiliac joint, generally accompanied by lower back pain.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-10T12:58:43Z") -AnnotationAssertion( "MSH:C563037") AnnotationAssertion( "UMLS:C0748473") AnnotationAssertion( "Sacroiliitis") AnnotationAssertion( "HP:0012317") @@ -132995,7 +131285,6 @@ SubClassOf( ) "Myoclonus that occurs during the initial phases of sleep.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-11T10:21:47Z") -AnnotationAssertion( "MSH:D009207") AnnotationAssertion( "SNOMEDCT_US:34101000119105") AnnotationAssertion( "UMLS:C0751352") AnnotationAssertion( "HP:0012323") @@ -133007,7 +131296,6 @@ SubClassOf( ) "A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-12T06:38:18Z") -AnnotationAssertion( "MSH:D007951") AnnotationAssertion( "SNOMEDCT_US:128934006") AnnotationAssertion( "SNOMEDCT_US:188732008") AnnotationAssertion( "SNOMEDCT_US:37810007") @@ -133022,7 +131310,6 @@ SubClassOf( "NCIT:C3178") "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-12T06:45:11Z") -AnnotationAssertion( "MSH:D015477") AnnotationAssertion( "SNOMEDCT_US:127225006") AnnotationAssertion( "SNOMEDCT_US:128831004") AnnotationAssertion( "UMLS:C0023480") @@ -133069,7 +131356,6 @@ SubClassOf( ) "An odontogenic tumor of the cementum of tooth.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-12T08:55:10Z") -AnnotationAssertion( "MSH:D002485") AnnotationAssertion( "SNOMEDCT_US:23255001") AnnotationAssertion( "SNOMEDCT_US:37258009") AnnotationAssertion( "UMLS:C0007659") @@ -133082,7 +131368,6 @@ SubClassOf( ) Annotation( "PMID:2644316") "A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-08-12T08:57:58Z") -AnnotationAssertion( "MSH:C536924") AnnotationAssertion( "SNOMEDCT_US:254786000") AnnotationAssertion( "SNOMEDCT_US:705155008") AnnotationAssertion( "UMLS:C0346073") @@ -133100,7 +131385,6 @@ SubClassOf( ) "An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-09-13T07:37:08Z") -AnnotationAssertion( "MSH:D011704") AnnotationAssertion( "SNOMEDCT_US:45816000") AnnotationAssertion( "UMLS:C0034186") AnnotationAssertion( "HP:0012330") @@ -133154,7 +131438,6 @@ SubClassOf( ) "Impairment of bile flow due to obstruction in large bile ducts outside the liver.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-09-13T08:13:48Z") -AnnotationAssertion( "MSH:D001651") AnnotationAssertion( "SNOMEDCT_US:20719006") AnnotationAssertion( "SNOMEDCT_US:8262006") AnnotationAssertion( "UMLS:C0005398") @@ -133228,7 +131511,6 @@ SubClassOf( ) "A pituitary prolactin cell adenoma of less than 10 mm diameter.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-09-13T09:49:32Z") -AnnotationAssertion( "MSH:D015175") AnnotationAssertion( "SNOMEDCT_US:253010003") AnnotationAssertion( "UMLS:C0344452") AnnotationAssertion( "HP:0012341") @@ -133240,7 +131522,6 @@ SubClassOf( ) "A pituitary prolactin cell adenoma of more than 10 mm diameter.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-09-13T09:50:29Z") -AnnotationAssertion( "MSH:D015175") AnnotationAssertion( "SNOMEDCT_US:253011004") AnnotationAssertion( "UMLS:C0344453") AnnotationAssertion( "HP:0012342") @@ -133268,7 +131549,6 @@ SubClassOf( ) "Isolated patches of hardened skin (scleroderma).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-09-13T09:55:47Z") -AnnotationAssertion( "MSH:D012594") AnnotationAssertion( "SNOMEDCT_US:201049004") AnnotationAssertion( "UMLS:C1527383") AnnotationAssertion( "HP:0012344") @@ -133662,7 +131942,6 @@ SubClassOf( ) "Partial or complete loss of vision in one half of the visual field of one or both eyes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-10-13T07:55:21Z") -AnnotationAssertion( "MSH:D006423") AnnotationAssertion( "SNOMEDCT_US:77674003") AnnotationAssertion( "UMLS:C0018979") AnnotationAssertion( "Hemianopsia") @@ -133675,7 +131954,6 @@ SubClassOf( ) "A subjective feeling of tiredness characterized by a lack of energy and motivation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-10-15T08:52:04Z") -AnnotationAssertion( "MSH:D005221") AnnotationAssertion( "SNOMEDCT_US:248274002") AnnotationAssertion( "SNOMEDCT_US:84229001") AnnotationAssertion( "UMLS:C0015672") @@ -133745,7 +132023,6 @@ SubClassOf( ) "Inflammation of the nasal mucosa with nasal congestion.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-10-19T05:37:08Z") -AnnotationAssertion( "MSH:D012220") AnnotationAssertion( "SNOMEDCT_US:70076002") AnnotationAssertion( "UMLS:C0035455") AnnotationAssertion( "UMLS:C2718128") @@ -133787,7 +132064,6 @@ SubClassOf( ) "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-07T07:24:16Z") -AnnotationAssertion( "MSH:D001991") AnnotationAssertion( "SNOMEDCT_US:32398004") AnnotationAssertion( "UMLS:C0006277") AnnotationAssertion( "HP:0012387") @@ -133821,7 +132097,6 @@ SubClassOf( ) "A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-07T07:36:49Z") -AnnotationAssertion( "MSH:D005401") AnnotationAssertion( "SNOMEDCT_US:20928004") AnnotationAssertion( "SNOMEDCT_US:30037006") AnnotationAssertion( "UMLS:C0016167") @@ -133861,7 +132136,6 @@ SubClassOf( ) "An allergy is an immune response or reaction to substances that are usually not harmful.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-07T07:47:22Z") -AnnotationAssertion( "MSH:D006967") AnnotationAssertion( "SNOMEDCT_US:419076005") AnnotationAssertion( "UMLS:C1527304") AnnotationAssertion(Annotation( ) "Allergy") @@ -133884,7 +132158,6 @@ SubClassOf( ) "An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-07T07:51:48Z") -AnnotationAssertion( "MSH:D006255") AnnotationAssertion( "SNOMEDCT_US:21719001") AnnotationAssertion( "SNOMEDCT_US:300910009") AnnotationAssertion( "SNOMEDCT_US:367498001") @@ -133900,7 +132173,6 @@ SubClassOf( ) Annotation( "PMID:12095476") "A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-07T07:56:55Z") -AnnotationAssertion( "MSH:D001657") AnnotationAssertion( "SNOMEDCT_US:197432008") AnnotationAssertion( "UMLS:C0005416") AnnotationAssertion( "HP:0012396") @@ -133941,7 +132213,6 @@ SubClassOf( ) "A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-08T08:49:52Z") -AnnotationAssertion( "MSH:D003668") AnnotationAssertion( "SNOMEDCT_US:399912005") AnnotationAssertion( "SNOMEDCT_US:420226006") AnnotationAssertion( "UMLS:C0011127") @@ -134049,7 +132320,6 @@ SubClassOf( ) "A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-09T04:15:36Z") -AnnotationAssertion( "MSH:D020233") AnnotationAssertion( "SNOMEDCT_US:22090007") AnnotationAssertion( "UMLS:C0231698") AnnotationAssertion(Annotation( ) "Scissor gait") @@ -134090,7 +132360,6 @@ SubClassOf( ) "A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-10T11:36:59Z") -AnnotationAssertion( "MSH:D012010") AnnotationAssertion( "SNOMEDCT_US:50715003") AnnotationAssertion( "UMLS:C0034902") AnnotationAssertion( "Red cell aplasia") @@ -134128,7 +132397,6 @@ SubClassOf( ) "The presence of a V-shaped indentation (notch) in the primary central incisor.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-10T12:07:34Z") -AnnotationAssertion( "MSH:D013590") AnnotationAssertion( "SNOMEDCT_US:410500004") AnnotationAssertion( "SNOMEDCT_US:86443005") AnnotationAssertion( "UMLS:C0020186") @@ -134170,7 +132438,6 @@ SubClassOf( ) "Abnormally elevated blood carbon dioxide (CO2) level.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-10T05:04:49Z") -AnnotationAssertion( "MSH:D006935") AnnotationAssertion( "SNOMEDCT_US:29596007") AnnotationAssertion( "UMLS:C0020440") AnnotationAssertion(Annotation( ) Annotation( ) "High blood carbon dioxide level") @@ -134185,7 +132452,6 @@ SubClassOf( ) "Abnormally reduced blood carbon dioxide (CO2) level.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-10T05:06:10Z") -AnnotationAssertion( "MSH:D016857") AnnotationAssertion( "SNOMEDCT_US:61031008") AnnotationAssertion( "UMLS:C0085383") AnnotationAssertion(Annotation( ) Annotation( "https://en.wikipedia.org/wiki/hypocapnia") "Hypocarbia") @@ -134200,7 +132466,6 @@ SubClassOf( ) "An abnormally low level of blood oxygen.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-10T05:07:07Z") -AnnotationAssertion( "MSH:D000860") AnnotationAssertion( "SNOMEDCT_US:389087006") AnnotationAssertion( "UMLS:C0700292") AnnotationAssertion(Annotation( ) Annotation( ) "Low blood oxygen level") @@ -134272,7 +132537,6 @@ SubClassOf( ) Annotation( "PMID:23449085") "The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-11T08:04:46Z") -AnnotationAssertion( "MSH:D003248") AnnotationAssertion( "UMLS:C1257861") AnnotationAssertion( "HP:0012423") AnnotationAssertion(rdfs:label "Colonic inertia") @@ -134283,7 +132547,6 @@ SubClassOf( ) Annotation( "PMID:16196117") "An inflammation of the choroid and retina.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-11T08:10:29Z") -AnnotationAssertion( "MSH:D002825") AnnotationAssertion( "SNOMEDCT_US:46627006") AnnotationAssertion( "UMLS:C0008513") AnnotationAssertion( "HP:0012424") @@ -134315,7 +132578,6 @@ SubClassOf( ) Annotation( "PMID:22787500") Annotation( "PMID:23658477") Annotation( "PMID:30524490") "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-12T10:36:06Z") -AnnotationAssertion( "MSH:D015594") AnnotationAssertion( "SNOMEDCT_US:33629003") AnnotationAssertion( "UMLS:C0029128") AnnotationAssertion( "Optic nerve head drusen") @@ -134516,7 +132778,6 @@ SubClassOf( ) "Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-23T02:21:59Z") -AnnotationAssertion( "MSH:D046628") AnnotationAssertion( "SNOMEDCT_US:430887001") AnnotationAssertion( "UMLS:C0878588") AnnotationAssertion( "UMLS:C4048750") @@ -134531,7 +132792,6 @@ SubClassOf( ) Annotation( "PMID:12095476") Annotation( "PMID:17761125") "Reduced motility of the gallbladder with reduced emptying fraction.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-23T02:28:07Z") -AnnotationAssertion( "MSH:D001657") AnnotationAssertion( "UMLS:C1449631") AnnotationAssertion( "HP:0012442") AnnotationAssertion(rdfs:comment "Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent.") @@ -134576,7 +132836,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-11-23T03:40:41Z") AnnotationAssertion( "HP:0012336") -AnnotationAssertion( "MSH:C567791") AnnotationAssertion( "SNOMEDCT_US:711403001") AnnotationAssertion( "UMLS:C2751584") AnnotationAssertion( "UMLS:C4022901") @@ -134657,7 +132916,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-23T07:42:59Z") -AnnotationAssertion( "MSH:D012148") AnnotationAssertion( "SNOMEDCT_US:32914008") AnnotationAssertion( "UMLS:C0035258") AnnotationAssertion( "Restless legs syndrome") @@ -134741,7 +132999,6 @@ SubClassOf( ) Annotation( "PMID:20585827") Annotation( "PMID:23832130") "A headache disorder that occurs exclusively at night, waking the affected individual from sleep.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-24T11:20:18Z") -AnnotationAssertion( "MSH:D051270") AnnotationAssertion( "SNOMEDCT_US:122711000119109") AnnotationAssertion( "UMLS:C0752150") AnnotationAssertion(Annotation( ) "Alarm clock headache") @@ -134765,7 +133022,6 @@ SubClassOf( ) "The presence of bacteria in the urine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-24T12:15:47Z") -AnnotationAssertion( "MSH:D001437") AnnotationAssertion( "SNOMEDCT_US:61373006") AnnotationAssertion( "UMLS:C0004659") AnnotationAssertion(Annotation( ) Annotation( ) "Bacteria in urine") @@ -134780,7 +133036,6 @@ SubClassOf( ) Annotation( "PMID:16816905") "Involuntary and irregular twitches of the chin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-24T12:26:38Z") -AnnotationAssertion( "MSH:C537682") AnnotationAssertion( "UMLS:C1860972") AnnotationAssertion( "Geniospasm") AnnotationAssertion( "Chin spasms") @@ -134988,7 +133243,6 @@ SubClassOf( ) "Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-28T07:24:24Z") -AnnotationAssertion( "MSH:C536957") AnnotationAssertion( "SNOMEDCT_US:298231004") AnnotationAssertion( "SNOMEDCT_US:50603008") AnnotationAssertion( "SNOMEDCT_US:91866004") @@ -135047,7 +133301,6 @@ SubClassOf( ) Annotation( "PMID:8770251") "A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-28T08:03:08Z") -AnnotationAssertion( "MSH:D020787") AnnotationAssertion( "UMLS:C1956261") AnnotationAssertion( "Developmental Venous Anomaly") AnnotationAssertion( "HP:0012481") @@ -135102,7 +133355,6 @@ SubClassOf( ) "Inflammation of the spinal cord.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-29T08:10:12Z") -AnnotationAssertion( "MSH:D009187") AnnotationAssertion( "SNOMEDCT_US:41370002") AnnotationAssertion( "UMLS:C0026975") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of spinal cord") @@ -135153,7 +133405,6 @@ SubClassOf( ) Annotation( "PMID:20666823") "Inflammation of subcutaneous adipose tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-29T09:28:11Z") -AnnotationAssertion( "MSH:D015434") AnnotationAssertion( "SNOMEDCT_US:22125009") AnnotationAssertion( "UMLS:C0030326") AnnotationAssertion(Annotation( ) "Inflammation of adipose tissue") @@ -135243,7 +133494,6 @@ SubClassOf( ) "A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-30T08:32:27Z") -AnnotationAssertion( "MSH:D053589") AnnotationAssertion( "SNOMEDCT_US:302929008") AnnotationAssertion( "UMLS:C0405124") AnnotationAssertion( "HP:0012498") @@ -135301,7 +133551,6 @@ SubClassOf( ) "An anomaly of the pituitary gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-11-30T09:34:21Z") -AnnotationAssertion( "MSH:D010900") AnnotationAssertion( "SNOMEDCT_US:399244003") AnnotationAssertion( "UMLS:C0032002") AnnotationAssertion( "Abnormality of the pituitary gland") @@ -135364,7 +133613,6 @@ SubClassOf( ) "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-12-08T08:21:46Z") -AnnotationAssertion( "MSH:D014786") AnnotationAssertion( "SNOMEDCT_US:42134006") AnnotationAssertion( "UMLS:C0271185") AnnotationAssertion( "HP:0012508") @@ -135630,7 +133878,6 @@ SubClassOf( ) "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-12-15T09:38:08Z") -AnnotationAssertion( "MSH:D010146") AnnotationAssertion( "SNOMEDCT_US:22253000") AnnotationAssertion( "UMLS:C0030193") AnnotationAssertion(Annotation( ) "Pain") @@ -135643,7 +133890,6 @@ SubClassOf( ) Annotation( "PMID:1875958") "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-12-15T09:46:55Z") -AnnotationAssertion( "MSH:D059350") AnnotationAssertion( "SNOMEDCT_US:82423001") AnnotationAssertion( "UMLS:C0150055") AnnotationAssertion(Annotation( ) "Chronic pain") @@ -135658,7 +133904,6 @@ SubClassOf( ) "Pain due to a stimulus that does not normally provoke pain.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-12-15T09:47:40Z") -AnnotationAssertion( "MSH:D006930") AnnotationAssertion( "SNOMEDCT_US:247404004") AnnotationAssertion( "UMLS:C0458247") AnnotationAssertion( "HP:0012533") @@ -135671,7 +133916,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2013-12-15T09:59:55Z") AnnotationAssertion( "HP:0031005") -AnnotationAssertion( "MSH:D010292") AnnotationAssertion( "SNOMEDCT_US:279079003") AnnotationAssertion( "UMLS:C0392699") AnnotationAssertion( "Dysaesthesia") @@ -135723,7 +133967,6 @@ SubClassOf( ) "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-12-15T10:31:34Z") -AnnotationAssertion( "MSH:D002446") AnnotationAssertion( "SNOMEDCT_US:396331005") AnnotationAssertion( "SNOMEDCT_US:441831003") AnnotationAssertion( "UMLS:C0007570") @@ -135739,7 +133982,6 @@ SubClassOf( ) "A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-12-15T10:45:49Z") -AnnotationAssertion( "MSH:D008228") AnnotationAssertion( "SNOMEDCT_US:118601006") AnnotationAssertion( "SNOMEDCT_US:128929007") AnnotationAssertion( "SNOMEDCT_US:188675007") @@ -136097,7 +134339,6 @@ SubClassOf( ) "A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-01-08T08:47:50Z") -AnnotationAssertion( "MSH:D013584") AnnotationAssertion( "SNOMEDCT_US:302851001") AnnotationAssertion( "SNOMEDCT_US:63211008") AnnotationAssertion( "UMLS:C0039101") @@ -136196,7 +134437,6 @@ SubClassOf( "HPO_CONTRIBUTOR:Eurenomics_fschaefer") "A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-01-16T01:22:41Z") -AnnotationAssertion( "MSH:D015433") AnnotationAssertion( "SNOMEDCT_US:77182004") AnnotationAssertion( "UMLS:C0017665") AnnotationAssertion( "Membranous glomerulonephritis") @@ -136209,7 +134449,6 @@ SubClassOf( "HPO_CONTRIBUTOR:Eurenomics_fschaefer") "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-01-16T01:26:20Z") -AnnotationAssertion( "MSH:D009402") AnnotationAssertion( "SNOMEDCT_US:44785005") AnnotationAssertion( "UMLS:C0027721") AnnotationAssertion( "Minimal change disease") @@ -136371,7 +134610,6 @@ SubClassOf( "HPO_CONTRIBUTOR:Eurenomics_fschaefer") "Increased concentration of albumin in the urine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-01-16T05:49:16Z") -AnnotationAssertion( "MSH:D000419") AnnotationAssertion( "SNOMEDCT_US:274769005") AnnotationAssertion( "UMLS:C0001925") AnnotationAssertion( "HP:0012592") @@ -136681,7 +134919,6 @@ SubClassOf( "HPO_CONTRIBUTOR:Eurenomics_fschaefer") "A cyst located along the allantois canal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-01-17T12:15:15Z") -AnnotationAssertion( "MSH:D014496") AnnotationAssertion( "SNOMEDCT_US:17234001") AnnotationAssertion( "UMLS:C0041915") AnnotationAssertion( "HP:0012618") @@ -136732,7 +134969,6 @@ AnnotationAssertion( AnnotationAssertion( "HP:0000106") AnnotationAssertion( "HP:0001918") AnnotationAssertion( "HP:0008671") -AnnotationAssertion( "MSH:D051436") AnnotationAssertion( "SNOMEDCT_US:709044004") AnnotationAssertion( "UMLS:C0748318") AnnotationAssertion( "UMLS:C1561643") @@ -136905,7 +135141,6 @@ SubClassOf( ) "Blockage of the retinal vein.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-01-17T11:43:32Z") -AnnotationAssertion( "MSH:D012170") AnnotationAssertion( "SNOMEDCT_US:46085004") AnnotationAssertion( "UMLS:C0035328") AnnotationAssertion( "HP:0012636") @@ -137099,7 +135334,6 @@ SubClassOf( ) "Asthma attacks following exercise.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-02-12T10:42:14Z") -AnnotationAssertion( "MSH:D001250") AnnotationAssertion( "SNOMEDCT_US:31387002") AnnotationAssertion( "UMLS:C0004099") AnnotationAssertion(Annotation( ) "Exercise-induced asthma") @@ -137112,7 +135346,6 @@ SubClassOf( ) Annotation( "PMID:22794687") "Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-02-12T10:43:34Z") -AnnotationAssertion( "MSH:D013224") AnnotationAssertion( "SNOMEDCT_US:708090002") AnnotationAssertion( "UMLS:C0038218") AnnotationAssertion(Annotation( ) "Acute severe asthma") @@ -137284,8 +135517,6 @@ SubClassOf( "PMID:29262088") "A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-02-15T01:33:13Z") -AnnotationAssertion( "MSH:D013575") -AnnotationAssertion( "MSH:D019462") AnnotationAssertion( "SNOMEDCT_US:234167006") AnnotationAssertion( "SNOMEDCT_US:398652001") AnnotationAssertion( "SNOMEDCT_US:398665005") @@ -137304,7 +135535,6 @@ SubClassOf( ) "An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-02-15T01:39:14Z") -AnnotationAssertion( "MSH:D013575") AnnotationAssertion( "SNOMEDCT_US:51723007") AnnotationAssertion( "UMLS:C0221046") AnnotationAssertion( "HP:0012669") @@ -137344,7 +135574,6 @@ SubClassOf( ) "Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-02-27T10:50:59Z") -AnnotationAssertion( "MSH:D000405") AnnotationAssertion( "SNOMEDCT_US:53333005") AnnotationAssertion( "UMLS:C0001889") AnnotationAssertion( "HP:0012672") @@ -137785,7 +136014,6 @@ SubClassOf( ) "Excessive growth of a nail laterally into the nail fold.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-03-23T12:09:47Z") -AnnotationAssertion( "MSH:D009263") AnnotationAssertion( "SNOMEDCT_US:400097005") AnnotationAssertion( "SNOMEDCT_US:400200009") AnnotationAssertion( "UMLS:C0027343") @@ -137917,7 +136145,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-23T01:16:06Z") AnnotationAssertion( "HP:0100637") -AnnotationAssertion( "MSH:D009669") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126669004") AnnotationAssertion( "UMLS:C0028433") @@ -137953,7 +136180,6 @@ SubClassOf( ) "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-03-23T01:32:14Z") -AnnotationAssertion( "MSH:D006327") AnnotationAssertion( "SNOMEDCT_US:233916004") AnnotationAssertion( "UMLS:C0018794") AnnotationAssertion( "HP:0012722") @@ -137966,7 +136192,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-23T01:34:01Z") AnnotationAssertion( "Fyler:7014") -AnnotationAssertion( "MSH:D012848") AnnotationAssertion( "SNOMEDCT_US:65778007") AnnotationAssertion( "UMLS:C0037188") AnnotationAssertion( "HP:0012723") @@ -138022,7 +136247,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2014-03-23T02:22:20Z") AnnotationAssertion( "Dilatation of the thoracic aorta") -AnnotationAssertion( "MSH:D017545") AnnotationAssertion( "SNOMEDCT_US:433068007") AnnotationAssertion( "UMLS:C0162872") AnnotationAssertion( "HP:0012727") @@ -138088,7 +136312,6 @@ SubClassOf( ) "An abnormality of the anus or rectum.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-03-23T02:48:00Z") -AnnotationAssertion( "MSH:D000071056") AnnotationAssertion( "SNOMEDCT_US:33225004") AnnotationAssertion( "UMLS:C3495676") AnnotationAssertion( "HP:0012732") @@ -138125,7 +136348,6 @@ SubClassOf( ) Annotation( "PMID:16428719") Annotation( "PMID:17540788") "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-03-23T03:19:50Z") -AnnotationAssertion( "MSH:D003371") AnnotationAssertion( "SNOMEDCT_US:263731006") AnnotationAssertion( "SNOMEDCT_US:272039006") AnnotationAssertion( "SNOMEDCT_US:49727002") @@ -138199,7 +136421,6 @@ SubClassOf( ) "A tumor of the skin or mucous membrane with finger-like projections.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-03-23T04:36:41Z") -AnnotationAssertion( "MSH:D010212") AnnotationAssertion( "SNOMEDCT_US:23730008") AnnotationAssertion( "SNOMEDCT_US:711329002") AnnotationAssertion( "UMLS:C0030354") @@ -138213,7 +136434,6 @@ SubClassOf( ) "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-03-23T04:41:57Z") -AnnotationAssertion( "MSH:D003456") AnnotationAssertion( "SNOMEDCT_US:268227001") AnnotationAssertion( "UMLS:C0431664") AnnotationAssertion( "Cryptorchidism, unilateral") @@ -138242,7 +136462,6 @@ SubClassOf( ) "Excessive fat around the stomach and abdomen.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-03-23T05:00:05Z") -AnnotationAssertion( "MSH:D056128") AnnotationAssertion( "SNOMEDCT_US:248311001") AnnotationAssertion( "UMLS:C0311277") AnnotationAssertion(Annotation( ) "Abdominal obesity") @@ -138494,7 +136713,6 @@ SubClassOf( ) "A sudden attack of dyspnea that occurs while the affected person is at rest.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-04-06T10:58:39Z") -AnnotationAssertion( "MSH:D004418") AnnotationAssertion( "SNOMEDCT_US:59265000") AnnotationAssertion( "UMLS:C0013405") AnnotationAssertion(Annotation( ) "Paroxysmal dyspnoea") @@ -138550,7 +136768,6 @@ SubClassOf( ) "Respiratory failure in the newborn.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-04-07T12:39:08Z") -AnnotationAssertion( "MSH:D001238") AnnotationAssertion( "SNOMEDCT_US:28314004") AnnotationAssertion( "SNOMEDCT_US:413654009") AnnotationAssertion( "UMLS:C0004045") @@ -138650,7 +136867,6 @@ SubClassOf( "HPO_CONTRIBUTOR:CINEAS_asollie") "A tumor (abnormal growth of tissue) of the retina.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-04-07T05:38:24Z") -AnnotationAssertion( "MSH:D019572") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:127002001") AnnotationAssertion( "UMLS:C0524801") @@ -138686,7 +136902,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the ear.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-04-07T06:11:56Z") -AnnotationAssertion( "MSH:D004428") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:363228008") AnnotationAssertion( "UMLS:C0013449") @@ -138738,7 +136953,6 @@ SubClassOf( ) "Inflammation of the connective and adipose tissues surrounding the kidney.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-04-20T03:32:07Z") -AnnotationAssertion( "MSH:D010501") AnnotationAssertion( "SNOMEDCT_US:111404004") AnnotationAssertion( "UMLS:C0031065") AnnotationAssertion( "HP:0012784") @@ -138901,7 +137115,6 @@ SubClassOf( "NCIT:C3723") "A benign or malignant neoplasm arising from the lymphatic vessels.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-05-24T05:00:34Z") -AnnotationAssertion( "MSH:D018190") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:115236002") AnnotationAssertion( "UMLS:C0206619") @@ -138917,7 +137130,6 @@ SubClassOf( ) "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-05-24T05:00:46Z") -AnnotationAssertion( "MSH:D018192") AnnotationAssertion( "SNOMEDCT_US:73017001") AnnotationAssertion( "UMLS:C0238399") AnnotationAssertion( "UMLS:C0751674") @@ -139005,7 +137217,6 @@ SubClassOf( ) "Inequality of refractive power of the two eyes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-05-25T03:05:21Z") -AnnotationAssertion( "MSH:D015858") AnnotationAssertion( "SNOMEDCT_US:3289004") AnnotationAssertion( "UMLS:C0003081") AnnotationAssertion( "HP:0012803") @@ -139017,7 +137228,6 @@ SubClassOf( ) "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-05-25T03:25:51Z") -AnnotationAssertion( "MSH:D003320") AnnotationAssertion( "SNOMEDCT_US:91514001") AnnotationAssertion( "UMLS:C0010043") AnnotationAssertion( "Corneal ulcer") @@ -139229,7 +137439,6 @@ SubClassOf( ) Annotation( "PMID:21304213") Annotation( "PMID:22185868") Annotation( "PMID:22361396") "Inflammation of the myocardium.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-05-28T09:01:32Z") -AnnotationAssertion( "MSH:D009205") AnnotationAssertion( "SNOMEDCT_US:50920009") AnnotationAssertion( "UMLS:C0027059") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of heart muscle") @@ -139255,7 +137464,6 @@ SubClassOf( ) "Decreased strength of the vocal fold on one side.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-05-28T09:25:11Z") -AnnotationAssertion( "MSH:D014826") AnnotationAssertion( "UMLS:C0751577") AnnotationAssertion( "HP:0012821") AnnotationAssertion(rdfs:label "Unilateral vocal cord paresis") @@ -139266,7 +137474,6 @@ SubClassOf( ) "Decreased strength of the vocal fold on both sides.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-05-28T09:25:43Z") -AnnotationAssertion( "MSH:D014826") AnnotationAssertion( "UMLS:C0751574") AnnotationAssertion( "HP:0012822") AnnotationAssertion(rdfs:label "Bilateral vocal cord paresis") @@ -139567,7 +137774,6 @@ SubClassOf( ) Annotation( "HPO_CONTRIBUTOR:UToronto_htrang") Annotation( "PMID:26336950") "Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-06-06T08:09:22Z") -AnnotationAssertion( "MSH:D017036") AnnotationAssertion( "SNOMEDCT_US:241006") AnnotationAssertion( "UMLS:C0085543") AnnotationAssertion( "Epilepsia partialis continua of Kojevnikov") @@ -139736,7 +137942,6 @@ SubClassOf( ) "A gonad that contains both ovarian follicles and testicular tubular elements.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-06-09T09:48:37Z") -AnnotationAssertion( "MSH:D050090") AnnotationAssertion( "SNOMEDCT_US:18978002") AnnotationAssertion( "UMLS:C0266361") AnnotationAssertion( "HP:0012861") @@ -139774,7 +137979,6 @@ SubClassOf( ) "A structural anomaly of sperm.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-06-09T10:07:03Z") -AnnotationAssertion( "MSH:D000072660") AnnotationAssertion( "SNOMEDCT_US:236817003") AnnotationAssertion( "UMLS:C0403824") AnnotationAssertion(Annotation( ) Annotation( ) "Abnormal shape of sperm") @@ -139846,7 +138050,6 @@ SubClassOf( ) Annotation( "PMID:22985611") "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-06-09T11:00:13Z") -AnnotationAssertion( "MSH:C537770") AnnotationAssertion( "SNOMEDCT_US:53599007") AnnotationAssertion( "UMLS:C0266427") AnnotationAssertion(Annotation( ) "Vanishing testis") @@ -139860,7 +138063,6 @@ SubClassOf( ) "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-06-09T11:07:41Z") -AnnotationAssertion( "MSH:D014646") AnnotationAssertion( "SNOMEDCT_US:46871008") AnnotationAssertion( "SNOMEDCT_US:51070004") AnnotationAssertion( "UMLS:C0042341") @@ -139925,7 +138127,6 @@ SubClassOf( ) "The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2014-06-09T11:24:37Z") -AnnotationAssertion( "MSH:D061686") AnnotationAssertion( "SNOMEDCT_US:44001008") AnnotationAssertion( "UMLS:C0033038") AnnotationAssertion(Annotation( ) "Premature ejaculation") @@ -142404,7 +140605,6 @@ SubClassOf( ) Annotation( "PMID:24649409") "Osteoarthritis of the metatarsophalangeal joint of the first toe.") AnnotationAssertion(dc:date "2016-06-25T09:23:22Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D020859") AnnotationAssertion( "SNOMEDCT_US:6654000") AnnotationAssertion( "UMLS:C0264134") AnnotationAssertion(Annotation( ) "Arthritis of the big toe") @@ -148891,7 +147091,6 @@ SubClassOf( (Capillary leak) AnnotationAssertion(Annotation( "PMID:24467750") Annotation( "PMID:24808988") "An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.") -AnnotationAssertion( "MSH:D019559") AnnotationAssertion( "SNOMEDCT_US:1608005") AnnotationAssertion( "SNOMEDCT_US:87730004") AnnotationAssertion( "UMLS:C0343084") @@ -148932,7 +147131,6 @@ SubClassOf( (Cervical insufficiency) AnnotationAssertion(Annotation( "PMID:17490914") Annotation( "PMID:20643692") "A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent") -AnnotationAssertion( "MSH:D002581") AnnotationAssertion( "SNOMEDCT_US:17382005") AnnotationAssertion( "UMLS:C0007871") AnnotationAssertion( "Incompetent cervix") @@ -148952,7 +147150,6 @@ SubClassOf( (Imperforate hymen) AnnotationAssertion(Annotation( "PMID:24822139") "A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.") -AnnotationAssertion( "MSH:C562397") AnnotationAssertion( "SNOMEDCT_US:65937002") AnnotationAssertion( "UMLS:C0152436") AnnotationAssertion(Annotation( "PMID:24822139") rdfs:comment "Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen.") @@ -148996,7 +147193,6 @@ SubClassOf( (Dyspareunia) AnnotationAssertion(Annotation( "PMID:16391543") "Recurrent or persistent genital pain associated with sexual intercourse.") -AnnotationAssertion( "MSH:D004414") AnnotationAssertion( "SNOMEDCT_US:71315007") AnnotationAssertion( "UMLS:C1384606") AnnotationAssertion(Annotation( "PMID:16391543") rdfs:comment "Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two.") @@ -149006,7 +147202,6 @@ SubClassOf( (Vaginismus) AnnotationAssertion(Annotation( "PMID:16391543") "Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.") -AnnotationAssertion( "MSH:D052065") AnnotationAssertion( "SNOMEDCT_US:79012001") AnnotationAssertion( "UMLS:C2004487") AnnotationAssertion( "Myalgia of pelvic floor") @@ -149107,7 +147302,6 @@ SubClassOf( (Absent nasal cartilage) AnnotationAssertion(Annotation( "PMID:19152422") Annotation( "eom:73e4e8bb2eec316d") "Lack of a palpable nasal cartilage.") -AnnotationAssertion( "MSH:C562753") AnnotationAssertion( "SNOMEDCT_US:232381002") AnnotationAssertion( "UMLS:C4022669") AnnotationAssertion( "UMLS:C4082198") @@ -149205,7 +147399,6 @@ SubClassOf( (Enchondroma) AnnotationAssertion( "A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.") -AnnotationAssertion( "MSH:D002812") AnnotationAssertion( "SNOMEDCT_US:31186001") AnnotationAssertion( "SNOMEDCT_US:423699002") AnnotationAssertion( "UMLS:C1704356") @@ -149295,7 +147488,6 @@ SubClassOf( (Colpocephaly) AnnotationAssertion(Annotation( "PMID:4058748") "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.") -AnnotationAssertion( "MSH:C535973") AnnotationAssertion( "SNOMEDCT_US:253160006") AnnotationAssertion( "UMLS:C0431384") AnnotationAssertion(rdfs:label "Colpocephaly") @@ -149304,7 +147496,6 @@ SubClassOf( (Brain abscess) AnnotationAssertion( "A collection of pus, immune cells, and other material in the brain.") -AnnotationAssertion( "MSH:D001922") AnnotationAssertion( "SNOMEDCT_US:441806004") AnnotationAssertion( "UMLS:C0006105") AnnotationAssertion(Annotation( ) "Brain abscess") @@ -149323,7 +147514,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D009290") AnnotationAssertion( "SNOMEDCT_US:60380001") AnnotationAssertion( "UMLS:C0027404") AnnotationAssertion(Annotation( "PMID:21931493") rdfs:comment "There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy.") @@ -149407,7 +147597,6 @@ SubClassOf( (Nervous tissue neoplasm) AnnotationAssertion( "A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).") -AnnotationAssertion( "MSH:D009380") AnnotationAssertion( "UMLS:C0027665") AnnotationAssertion(rdfs:label "Nervous tissue neoplasm") SubClassOf( ) @@ -149415,7 +147604,6 @@ SubClassOf( (Neuroectodermal neoplasm) AnnotationAssertion( "A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.") -AnnotationAssertion( "MSH:D017599") AnnotationAssertion( "SNOMEDCT_US:253096008") AnnotationAssertion( "SNOMEDCT_US:73676002") AnnotationAssertion( "UMLS:C0206093") @@ -149425,7 +147613,6 @@ SubClassOf( (Craniopharyngioma) AnnotationAssertion(Annotation( "PMID:17425791") "A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system.") -AnnotationAssertion( "MSH:D003397") AnnotationAssertion( "SNOMEDCT_US:189179009") AnnotationAssertion( "SNOMEDCT_US:40009002") AnnotationAssertion( "UMLS:C0010276") @@ -149436,7 +147623,6 @@ SubClassOf( (Neuroepithelial neoplasm) AnnotationAssertion( "A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.") -AnnotationAssertion( "MSH:D018302") AnnotationAssertion( "UMLS:C0206715") AnnotationAssertion(rdfs:label "Neuroepithelial neoplasm") SubClassOf( ) @@ -149444,7 +147630,6 @@ SubClassOf( (Neurocytoma) AnnotationAssertion( "A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.") -AnnotationAssertion( "MSH:D018306") AnnotationAssertion( "SNOMEDCT_US:128858006") AnnotationAssertion( "UMLS:C1622510") AnnotationAssertion(rdfs:comment "Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles.") @@ -149454,7 +147639,6 @@ SubClassOf( (Primitive neuroectodermal tumor) AnnotationAssertion( "A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.") -AnnotationAssertion( "MSH:D018242") AnnotationAssertion( "SNOMEDCT_US:39781001") AnnotationAssertion( "SNOMEDCT_US:55045006") AnnotationAssertion( "SNOMEDCT_US:699028006") @@ -149466,7 +147650,6 @@ SubClassOf( (Ependymoblastoma) AnnotationAssertion( "A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.") -AnnotationAssertion( "MSH:D018242") AnnotationAssertion( "SNOMEDCT_US:21589007") AnnotationAssertion( "SNOMEDCT_US:715901002") AnnotationAssertion( "UMLS:C0700367") @@ -149477,7 +147660,6 @@ SubClassOf( (Peripheral primitive neuroectodermal neoplasm) AnnotationAssertion( "A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.") -AnnotationAssertion( "MSH:D018241") AnnotationAssertion( "SNOMEDCT_US:253096008") AnnotationAssertion( "SNOMEDCT_US:703707001") AnnotationAssertion( "SNOMEDCT_US:73676002") @@ -149488,7 +147670,6 @@ SubClassOf( (Olfactory esthesioneuroblastoma) AnnotationAssertion( "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.") -AnnotationAssertion( "MSH:D018304") AnnotationAssertion( "SNOMEDCT_US:422886007") AnnotationAssertion( "SNOMEDCT_US:68614005") AnnotationAssertion( "SNOMEDCT_US:76060004") @@ -149519,7 +147700,6 @@ SubClassOf( (Medulloepithelioma) AnnotationAssertion(Annotation( "PMID:17566306") "A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.") -AnnotationAssertion( "MSH:D018242") AnnotationAssertion( "SNOMEDCT_US:39005004") AnnotationAssertion( "SNOMEDCT_US:715903004") AnnotationAssertion( "UMLS:C0334596") @@ -149530,7 +147710,6 @@ SubClassOf( (Paranasal sinus neoplasm) AnnotationAssertion( "A tumor that originates in the paranasal sinus.") -AnnotationAssertion( "MSH:D010255") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126675008") AnnotationAssertion( "UMLS:C0030470") @@ -149550,7 +147729,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Chemodectoma) AnnotationAssertion( "A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.") -AnnotationAssertion( "MSH:D002345") AnnotationAssertion( "SNOMEDCT_US:127028003") AnnotationAssertion( "SNOMEDCT_US:30699005") AnnotationAssertion( "UMLS:C0007279") @@ -149561,7 +147739,6 @@ SubClassOf( (Ductal carcinoma in situ) AnnotationAssertion(Annotation( "PMID:24415964") "Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.") -AnnotationAssertion( "MSH:D002285") AnnotationAssertion( "SNOMEDCT_US:109889007") AnnotationAssertion( "SNOMEDCT_US:278053004") AnnotationAssertion( "SNOMEDCT_US:373176000") @@ -149572,7 +147749,6 @@ SubClassOf( (Lobular carcinoma in situ) -AnnotationAssertion( "MSH:D000071960") AnnotationAssertion( "SNOMEDCT_US:109888004") AnnotationAssertion( "UMLS:C0279563") AnnotationAssertion(rdfs:label "Lobular carcinoma in situ") @@ -149581,7 +147757,6 @@ SubClassOf( (Bronchial neoplasm) AnnotationAssertion( "A tumor originating in a bronchus.") -AnnotationAssertion( "MSH:D001984") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126705004") AnnotationAssertion( "UMLS:C0006264") @@ -149591,7 +147766,6 @@ SubClassOf( (Lung adenocarcinoma) -AnnotationAssertion( "MSH:C538231") AnnotationAssertion( "NCIT:C2852") AnnotationAssertion( "SNOMEDCT_US:254626006") AnnotationAssertion( "UMLS:C0152013") @@ -149601,7 +147775,6 @@ SubClassOf( (Cervix cancer) AnnotationAssertion( "A tumor of the uterine cervix.") -AnnotationAssertion( "MSH:D002583") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:363354003") AnnotationAssertion( "UMLS:C4048328") @@ -149611,7 +147784,6 @@ SubClassOf( (Burkitt lymphoma) AnnotationAssertion( "A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.") -AnnotationAssertion( "MSH:D002051") AnnotationAssertion( "SNOMEDCT_US:118617000") AnnotationAssertion( "SNOMEDCT_US:22197008") AnnotationAssertion( "SNOMEDCT_US:277571004") @@ -150028,7 +148200,6 @@ SubClassOf( ) Annotation( "PMID:25221341") "The growth of endometrial tissue outside the uterus.") AnnotationAssertion( "HP:0030013") -AnnotationAssertion( "MSH:D004715") AnnotationAssertion( "SNOMEDCT_US:129103003") AnnotationAssertion( "SNOMEDCT_US:396224008") AnnotationAssertion( "UMLS:C0014175") @@ -150197,7 +148368,6 @@ SubClassOf( (Heart murmur) AnnotationAssertion(Annotation( ) "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.") -AnnotationAssertion( "MSH:D006337") AnnotationAssertion( "SNOMEDCT_US:414786004") AnnotationAssertion( "SNOMEDCT_US:421493004") AnnotationAssertion( "SNOMEDCT_US:88610006") @@ -150213,7 +148383,6 @@ SubClassOf( (Cardiogenic shock) AnnotationAssertion(Annotation( "PMID:24188221") "Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.") -AnnotationAssertion( "MSH:D012770") AnnotationAssertion( "SNOMEDCT_US:89138009") AnnotationAssertion( "UMLS:C0036980") AnnotationAssertion( "Cardiovascular shock") @@ -150232,7 +148401,6 @@ SubClassOf( (Cholangitis) AnnotationAssertion(Annotation( ) Annotation( "PMID:21994886") "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.") -AnnotationAssertion( "MSH:D002761") AnnotationAssertion( "SNOMEDCT_US:82403002") AnnotationAssertion( "UMLS:C0008311") AnnotationAssertion(Annotation( ) "Bile duct inflammation") @@ -150251,7 +148419,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Cholangiocarcinoma) AnnotationAssertion(Annotation( ) Annotation( "PMID:18536057") Annotation( "PMID:8268770") "Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.") -AnnotationAssertion( "MSH:D018281") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:312104005") AnnotationAssertion( "SNOMEDCT_US:70179006") @@ -150294,7 +148461,6 @@ SubClassOf( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.") AnnotationAssertion(Annotation( ) "Kidney pain") -AnnotationAssertion( "MSH:D021501") AnnotationAssertion( "SNOMEDCT_US:247355005") AnnotationAssertion( "UMLS:C0016199") AnnotationAssertion(Annotation( ) "Flank pain") @@ -150305,7 +148471,6 @@ SubClassOf( (Cervical ectropion) AnnotationAssertion(Annotation( ) Annotation( "PMID:21270291") Annotation( "PMID:28460993") "Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu") -AnnotationAssertion( "MSH:D002579") AnnotationAssertion( "SNOMEDCT_US:61253004") AnnotationAssertion( "SNOMEDCT_US:79342006") AnnotationAssertion( "UMLS:C0007869") @@ -150319,7 +148484,6 @@ SubClassOf( (Cervical polyp) AnnotationAssertion(Annotation( ) Annotation( "PMID:21270291") "Abnormal growth of tissue projecting from a mucous membrane of the endocervix.") -AnnotationAssertion( "MSH:D002583") AnnotationAssertion( "SNOMEDCT_US:123841004") AnnotationAssertion( "SNOMEDCT_US:65576009") AnnotationAssertion( "UMLS:C0007855") @@ -150332,7 +148496,6 @@ SubClassOf( (Cervicitis) AnnotationAssertion(Annotation( ) Annotation( "PMID:21270291") "Inflammation of the uterine cervix.") -AnnotationAssertion( "MSH:D002575") AnnotationAssertion( "SNOMEDCT_US:37610005") AnnotationAssertion( "UMLS:C0007860") AnnotationAssertion( "Uterine cervicitis") @@ -150417,7 +148580,6 @@ SubClassOf( (Gastric varix) AnnotationAssertion(Annotation( ) Annotation( "PMID:24891929") "Extreme dilation of the submucusoal veins in the stomach.") -AnnotationAssertion( "MSH:D004932") AnnotationAssertion( "SNOMEDCT_US:91109007") AnnotationAssertion( "UMLS:C0017145") AnnotationAssertion( "Gastric varices") @@ -150552,8 +148714,6 @@ SubClassOf( (Kinetic tremor) AnnotationAssertion( "Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.") -AnnotationAssertion( "MSH:D014202") -AnnotationAssertion( "MSH:D020329") AnnotationAssertion( "SNOMEDCT_US:30721006") AnnotationAssertion( "SNOMEDCT_US:609558009") AnnotationAssertion( "UMLS:C0234376") @@ -150703,7 +148863,6 @@ SubClassOf( (Paradoxical respiration) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:tevangelista") "Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.") -AnnotationAssertion( "MSH:D005409") AnnotationAssertion( "SNOMEDCT_US:12025005") AnnotationAssertion( "SNOMEDCT_US:78011002") AnnotationAssertion( "UMLS:C0016196") @@ -150832,7 +148991,6 @@ SubClassOf( (Semantic dementia) AnnotationAssertion(Annotation( "HPO_CONTRIBUTOR:ICM_PCaroppo") Annotation( "PMID:24966676") "A progressive loss of the ability to remember the meaning of words, faces and objects.") -AnnotationAssertion( "MSH:D057180") AnnotationAssertion( "SNOMEDCT_US:230288001") AnnotationAssertion( "UMLS:C0338462") AnnotationAssertion(Annotation( ) "Trouble remembering words") @@ -150873,7 +149031,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D000377") AnnotationAssertion( "SNOMEDCT_US:25762009") AnnotationAssertion( "UMLS:C0234502") AnnotationAssertion(rdfs:label "Visual agnosia") @@ -151051,7 +149208,6 @@ SubClassOf( (Hepatic vein thrombosis) AnnotationAssertion(Annotation( ) "An obstruction in the veins of the liver caused by a blood clot (thrombosis).") -AnnotationAssertion( "MSH:D006502") AnnotationAssertion( "SNOMEDCT_US:38739001") AnnotationAssertion( "UMLS:C0019154") AnnotationAssertion(Annotation( ) Annotation( ) "Blood clot in liver vein") @@ -151098,7 +149254,6 @@ SubClassOf( (Mesenteric venous thrombosis) AnnotationAssertion( "A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).") -AnnotationAssertion( "MSH:D065666") AnnotationAssertion( "SNOMEDCT_US:95446005") AnnotationAssertion( "UMLS:C0267412") AnnotationAssertion(Annotation( ) "Blood clot in mesentertic vein") @@ -151936,7 +150091,6 @@ SubClassOf( (Small cell lung carcinoma) AnnotationAssertion(Annotation( ) "Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.") -AnnotationAssertion( "MSH:D055752") AnnotationAssertion( "SNOMEDCT_US:254632001") AnnotationAssertion( "SNOMEDCT_US:254633006") AnnotationAssertion( "UMLS:C0149925") @@ -151948,7 +150102,6 @@ SubClassOf( (Non-small cell lung carcinoma) -AnnotationAssertion( "MSH:D002289") AnnotationAssertion( "SNOMEDCT_US:254637007") AnnotationAssertion( "UMLS:C0007131") AnnotationAssertion( "Non-small cell lung cancer") @@ -152006,7 +150159,6 @@ SubClassOf( (Vaginal birth after Caesarian) AnnotationAssertion(Annotation( ) Annotation( "PMID:24104780") "Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.") -AnnotationAssertion( "MSH:D016064") AnnotationAssertion( "UMLS:C0080301") AnnotationAssertion(rdfs:label "Vaginal birth after Caesarian") SubClassOf( ) @@ -152221,7 +150373,6 @@ SubClassOf( (Choroid plexus carcinoma) AnnotationAssertion(Annotation( ) Annotation( "PMID:11135453") "Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.") -AnnotationAssertion( "MSH:C562943") AnnotationAssertion( "SNOMEDCT_US:88252006") AnnotationAssertion( "UMLS:C0431109") AnnotationAssertion(rdfs:label "Choroid plexus carcinoma") @@ -152246,7 +150397,6 @@ SubClassOf( (Fallopian tube carcinoma) AnnotationAssertion(Annotation( ) Annotation( "NCIT:C3867") "Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.") -AnnotationAssertion( "MSH:D005185") AnnotationAssertion( "SNOMEDCT_US:276870001") AnnotationAssertion( "UMLS:C0238122") AnnotationAssertion(rdfs:label "Fallopian tube carcinoma") @@ -152305,7 +150455,6 @@ SubClassOf( (Spontaneous platelet aggregation) AnnotationAssertion(Annotation( ) "Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.") -AnnotationAssertion( "MSH:C566800") AnnotationAssertion( "UMLS:C1868263") AnnotationAssertion(rdfs:label "Spontaneous platelet aggregation") SubClassOf( ) @@ -152313,7 +150462,6 @@ SubClassOf( (Glucagonoma) AnnotationAssertion(Annotation( ) "An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.") -AnnotationAssertion( "MSH:D005935") AnnotationAssertion( "SNOMEDCT_US:128855009") AnnotationAssertion( "SNOMEDCT_US:16424000") AnnotationAssertion( "SNOMEDCT_US:302823005") @@ -152325,7 +150473,6 @@ SubClassOf( (Pancreatic endocrine tumor) AnnotationAssertion(Annotation( ) "A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.") -AnnotationAssertion( "MSH:D007516") AnnotationAssertion( "SNOMEDCT_US:126864006") AnnotationAssertion( "SNOMEDCT_US:128878003") AnnotationAssertion( "SNOMEDCT_US:237596009") @@ -152346,7 +150493,6 @@ SubClassOf( (Pineocytoma) AnnotationAssertion( "A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumor (WHO grade I).") -AnnotationAssertion( "MSH:D010871") AnnotationAssertion( "NCIT:C6966") AnnotationAssertion( "SNOMEDCT_US:255045009") AnnotationAssertion( "SNOMEDCT_US:89096009") @@ -152358,7 +150504,6 @@ SubClassOf( ) Annotation( "PMID:21717450") "Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.") AnnotationAssertion( "HP:0040193") -AnnotationAssertion( "MSH:D010871") AnnotationAssertion( "SNOMEDCT_US:31671006") AnnotationAssertion( "UMLS:C0205898") AnnotationAssertion( "Pinealoblastoma") @@ -152380,7 +150525,6 @@ SubClassOf( (Sebaceous gland carcinoma) AnnotationAssertion(Annotation( ) "A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)") -AnnotationAssertion( "MSH:D018266") AnnotationAssertion( "SNOMEDCT_US:307599002") AnnotationAssertion( "SNOMEDCT_US:54734006") AnnotationAssertion( "UMLS:C0206684") @@ -152432,7 +150576,6 @@ SubClassOf( (Vulvar neoplasm) AnnotationAssertion(Annotation( ) "A tumor (abnormal growth of tissue) of the female external genital tract (vulva).") -AnnotationAssertion( "MSH:D014846") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126922007") AnnotationAssertion( "UMLS:C0042995") @@ -152505,7 +150648,6 @@ SubClassOf( (Epididymal cyst) AnnotationAssertion(Annotation( ) Annotation( "PMID:14767330") "A smooth, extratesticular, spherical cyst in the head of the epididymis.") -AnnotationAssertion( "MSH:D013088") AnnotationAssertion( "SNOMEDCT_US:43077002") AnnotationAssertion( "SNOMEDCT_US:49263001") AnnotationAssertion( "UMLS:C0037859") @@ -152524,7 +150666,6 @@ SubClassOf( (Ossifying fibroma) AnnotationAssertion(Annotation( ) "A benign central bone tumor composed of fibrous connective tissue within which bone is formed.") -AnnotationAssertion( "MSH:D018214") AnnotationAssertion( "SNOMEDCT_US:25603007") AnnotationAssertion( "SNOMEDCT_US:302862001") AnnotationAssertion( "SNOMEDCT_US:302863006") @@ -152563,7 +150704,6 @@ SubClassOf( (Neuroma) AnnotationAssertion(Annotation( ) "A tumor made up of nerve cells and nerve fibers.") -AnnotationAssertion( "MSH:D009463") AnnotationAssertion( "SNOMEDCT_US:25169009") AnnotationAssertion( "SNOMEDCT_US:274089002") AnnotationAssertion( "SNOMEDCT_US:443892003") @@ -152579,7 +150719,6 @@ SubClassOf( (Osteochondroma) AnnotationAssertion(Annotation( ) Annotation( "PMID:18271966") "A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.") -AnnotationAssertion( "MSH:D015831") AnnotationAssertion( "SNOMEDCT_US:307573009") AnnotationAssertion( "SNOMEDCT_US:443093007") AnnotationAssertion( "SNOMEDCT_US:52299001") @@ -152592,7 +150731,6 @@ SubClassOf( (Chondroblastoma) AnnotationAssertion(Annotation( ) Annotation( "PMID:19387641") "A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.") -AnnotationAssertion( "MSH:D002804") AnnotationAssertion( "SNOMEDCT_US:9001003") AnnotationAssertion( "UMLS:C0008441") AnnotationAssertion(rdfs:comment "Chondroblastomas of bone are rare benign bone tumors, arising at the cartilaginous growth plate, representing approximately 1-2% of all bone tumors. The most common sites are the proximal humerus and the proximal tibia, but the third most common site is the proximal femur. Histologically, the tumor consists predominantly of well-defined polygonal chondroblast-type cells similar to epiphyseal chondrocytes, with large nucleoli and benign-looking nuclei that have a tendency to be multilobulate and have a continuous dense band of substance along the inner nuclear membrane, intra-cytoplasmic inclusions of glycogen and lipids, numerous mitochondria and superficial secretion vesicles arising from a well developed rough endoplasmic reticulum. There are multi-nucleated giant cells, foci of chondroid matrix, with focal calcification that may acquire a \"chicken wire\" appearance. Aneurysmal bone cysts are associated with chondroblastoma in 14% of cases.") @@ -152602,7 +150740,6 @@ SubClassOf( (Osteoid osteoma) AnnotationAssertion(Annotation( ) Annotation( "PMID:23329939") "A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.") -AnnotationAssertion( "MSH:D010017") AnnotationAssertion( "SNOMEDCT_US:302859004") AnnotationAssertion( "SNOMEDCT_US:71666005") AnnotationAssertion( "UMLS:C0029441") @@ -152612,7 +150749,6 @@ SubClassOf( (Pilomatrixoma) AnnotationAssertion(Annotation( ) Annotation( "PMID:21430899") "Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.") -AnnotationAssertion( "MSH:D018296") AnnotationAssertion( "SNOMEDCT_US:274901004") AnnotationAssertion( "SNOMEDCT_US:44155009") AnnotationAssertion( "UMLS:C0206711") @@ -152719,7 +150855,6 @@ SubClassOf( (Merkel cell skin cancer) AnnotationAssertion(Annotation( ) Annotation( "PMID:16565213") "A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.") -AnnotationAssertion( "MSH:D015266") AnnotationAssertion( "SNOMEDCT_US:253001006") AnnotationAssertion( "SNOMEDCT_US:254729005") AnnotationAssertion( "SNOMEDCT_US:5052009") @@ -152739,7 +150874,6 @@ SubClassOf( (Soft tissue sarcoma) AnnotationAssertion(Annotation( ) "A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.") -AnnotationAssertion( "MSH:D012509") AnnotationAssertion( "SNOMEDCT_US:2424003") AnnotationAssertion( "SNOMEDCT_US:269469005") AnnotationAssertion( "SNOMEDCT_US:424413001") @@ -152753,7 +150887,6 @@ SubClassOf( (Therapeutic abortion) AnnotationAssertion(Annotation( ) "Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.") -AnnotationAssertion( "MSH:D000032") AnnotationAssertion( "SNOMEDCT_US:386641000") AnnotationAssertion( "UMLS:C0000820") AnnotationAssertion(rdfs:label "Therapeutic abortion") @@ -152770,7 +150903,6 @@ SubClassOf( (Mesenteric cyst) AnnotationAssertion(Annotation( ) Annotation( "PMID:24936122") "A closed fluid filled sac originating from the mesentary.") -AnnotationAssertion( "MSH:D008639") AnnotationAssertion( "SNOMEDCT_US:253802003") AnnotationAssertion( "SNOMEDCT_US:27970007") AnnotationAssertion( "UMLS:C0025467") @@ -153108,7 +151240,6 @@ SubClassOf( (Retinoschisis) AnnotationAssertion(Annotation( ) "Splitting of the neuroretinal layers of the retina.") -AnnotationAssertion( "MSH:D041441") AnnotationAssertion( "SNOMEDCT_US:44268007") AnnotationAssertion( "UMLS:C0152439") AnnotationAssertion(rdfs:label "Retinoschisis") @@ -153175,7 +151306,6 @@ SubClassOf( (Bradyopsia) AnnotationAssertion(Annotation( "PMID:25770143") "Difficulty in seeing moving objects.") -AnnotationAssertion( "MSH:C564243") AnnotationAssertion( "SNOMEDCT_US:711163009") AnnotationAssertion( "UMLS:C1842073") AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty seeing moving objects") @@ -153214,7 +151344,6 @@ SubClassOf( (Homonymous hemianopia) -AnnotationAssertion( "MSH:D006423") AnnotationAssertion( "SNOMEDCT_US:34063005") AnnotationAssertion( "UMLS:C0271202") AnnotationAssertion( "Homonymous hemianopsia") @@ -153245,7 +151374,6 @@ SubClassOf( (Binasal hemianopia) -AnnotationAssertion( "MSH:D006423") AnnotationAssertion( "SNOMEDCT_US:87278000") AnnotationAssertion( "UMLS:C0271208") AnnotationAssertion(rdfs:label "Binasal hemianopia") @@ -153253,7 +151381,6 @@ SubClassOf( (Bitemporal hemianopia) -AnnotationAssertion( "MSH:D006423") AnnotationAssertion( "SNOMEDCT_US:61917005") AnnotationAssertion( "UMLS:C0221184") AnnotationAssertion(rdfs:label "Bitemporal hemianopia") @@ -153307,7 +151434,6 @@ SubClassOf( (Paracentral scotoma) -AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:64418005") AnnotationAssertion( "UMLS:C0271197") AnnotationAssertion(rdfs:label "Paracentral scotoma") @@ -153316,7 +151442,6 @@ SubClassOf( (Ring scotoma) AnnotationAssertion(Annotation( "PMID:30581310") "An annular field defect centered on fixation.") -AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:129625005") AnnotationAssertion( "UMLS:C0438434") AnnotationAssertion( "Annular scotoma") @@ -153327,7 +151452,6 @@ SubClassOf( (Arcuate scotoma) AnnotationAssertion(Annotation( ) Annotation( ) "Arc-shaped blind spot") -AnnotationAssertion( "MSH:D012607") AnnotationAssertion( "SNOMEDCT_US:15462009") AnnotationAssertion( "UMLS:C0271198") AnnotationAssertion( "UMLS:C4280302") @@ -154011,7 +152135,6 @@ SubClassOf( (Fundus albipunctatus) -AnnotationAssertion( "MSH:C562733") AnnotationAssertion( "SNOMEDCT_US:68222009") AnnotationAssertion( "UMLS:C0311338") AnnotationAssertion(rdfs:label "Fundus albipunctatus") @@ -154194,7 +152317,6 @@ SubClassOf( "PMID:6568936") "Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D001259") AnnotationAssertion( "UMLS:C0750940") AnnotationAssertion( "Holmes' tremor") AnnotationAssertion(rdfs:comment "Rubral tremor can be observed with midbrain injury and probably results from combined lesions of the superior cerebellar peduncle, substantia nigra, and red nucleus with interruption of the outflow pathway from the cerebellum to the motor thalamus. This tremor is present at rest but tends to be slower (3 to 5 Hz) than typical Parkinson tremor (5 to 7 Hz). It also persists unchanged or even increases with postural changes or goal-directed activity.") @@ -154205,7 +152327,6 @@ SubClassOf( "PMID:23329331") "In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D015861") AnnotationAssertion( "SNOMEDCT_US:61267008") AnnotationAssertion( "UMLS:C0035320") AnnotationAssertion( "Retinal neovascularisation") @@ -154271,7 +152392,6 @@ SubClassOf( "PMID:8152765") "A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:C536075") AnnotationAssertion( "SNOMEDCT_US:232064001") AnnotationAssertion( "UMLS:C1840452") AnnotationAssertion(rdfs:label "Erosive vitreoretinopathy") @@ -154354,7 +152474,6 @@ SubClassOf( (Vaginitis) AnnotationAssertion( "Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.") -AnnotationAssertion( "MSH:D014627") AnnotationAssertion( "SNOMEDCT_US:30800001") AnnotationAssertion( "UMLS:C0042267") AnnotationAssertion( "Vulvovaginitis") @@ -154435,7 +152554,6 @@ SubClassOf( (Brain neoplasm) AnnotationAssertion( "A benign or malignant neoplasm that arises from or metastasizes to the brain.") -AnnotationAssertion( "MSH:D001932") AnnotationAssertion( "NCIT:C2907") AnnotationAssertion( "SNOMEDCT_US:126952004") AnnotationAssertion( "SNOMEDCT_US:254935002") @@ -154449,8 +152567,6 @@ SubClassOf( (Supratentorial neoplasm) AnnotationAssertion( "A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.") -AnnotationAssertion( "MSH:D010871") -AnnotationAssertion( "MSH:D015173") AnnotationAssertion( "NCIT:C3328") AnnotationAssertion( "SNOMEDCT_US:127026004") AnnotationAssertion( "SNOMEDCT_US:359619007") @@ -154465,7 +152581,6 @@ SubClassOf( (Pineal parenchymal cell neoplasm) -AnnotationAssertion( "MSH:D010871") AnnotationAssertion( "SNOMEDCT_US:127026004") AnnotationAssertion( "SNOMEDCT_US:359619007") AnnotationAssertion( "SNOMEDCT_US:47598005") @@ -154476,7 +152591,6 @@ SubClassOf( (Ranula) AnnotationAssertion(Annotation( ) Annotation( "PMID:23291329") "A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.") -AnnotationAssertion( "MSH:D011900") AnnotationAssertion( "SNOMEDCT_US:14919007") AnnotationAssertion( "UMLS:C2242813") AnnotationAssertion( "Sublingual cyst") @@ -154487,7 +152601,6 @@ SubClassOf( (Unilateral lung agenesis) AnnotationAssertion( "Lack of development of one lung.") -AnnotationAssertion( "MSH:C562992") AnnotationAssertion( "UMLS:C4082952") AnnotationAssertion(Annotation( ) "Unilateral pulmonary agenesis") AnnotationAssertion(rdfs:label "Unilateral lung agenesis") @@ -154506,7 +152619,6 @@ SubClassOf( (Myelocystocele) AnnotationAssertion(Annotation( ) Annotation( "PMID:9514174") "Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.") -AnnotationAssertion( "MSH:D008591") AnnotationAssertion( "SNOMEDCT_US:203994003") AnnotationAssertion( "SNOMEDCT_US:414667000") AnnotationAssertion( "UMLS:C0025312") @@ -154525,7 +152637,6 @@ SubClassOf( (Hydrocolpos) AnnotationAssertion(Annotation( ) "Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.") -AnnotationAssertion( "MSH:D052202") AnnotationAssertion( "UMLS:C1399870") AnnotationAssertion(rdfs:comment "This term is distinct from Hydrometrocolpos (HP:0030010), which indicates additional uterine dilation.") AnnotationAssertion(rdfs:label "Hydrocolpos") @@ -154534,7 +152645,6 @@ SubClassOf( (Uterine synechiae) AnnotationAssertion(Annotation( ) "Adhesions or scar tissue that form inside the cavity of the uterus.") -AnnotationAssertion( "MSH:D006175") AnnotationAssertion( "SNOMEDCT_US:48236007") AnnotationAssertion( "UMLS:C0156372") AnnotationAssertion( "Asherman syndrome") @@ -154545,7 +152655,6 @@ SubClassOf( (Vein of Galen aneurysmal malformation) AnnotationAssertion(Annotation( ) Annotation( "PMID:32706613") Annotation( "PMID:33168212") "Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.") -AnnotationAssertion( "MSH:C536535") AnnotationAssertion( "SNOMEDCT_US:253194008") AnnotationAssertion( "UMLS:C0431420") AnnotationAssertion( "Median prosencephalic arteriovenous fistula") @@ -154576,7 +152685,6 @@ SubClassOf( (Acrania) AnnotationAssertion(Annotation( ) "Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.") -AnnotationAssertion( "MSH:D009436") AnnotationAssertion( "SNOMEDCT_US:203923004") AnnotationAssertion( "UMLS:C0702169") AnnotationAssertion(rdfs:label "Acrania") @@ -154649,7 +152757,6 @@ SubClassOf( (Central nervous system cyst) AnnotationAssertion(Annotation( ) Annotation( "PMID:11593239") Annotation( "PMID:24455569") "A fluid-filled sac (cyst) located within the central nervous system.") -AnnotationAssertion( "MSH:D020863") AnnotationAssertion( "SNOMEDCT_US:277333006") AnnotationAssertion( "UMLS:C0349606") AnnotationAssertion(Annotation( ) "CNS cyst") @@ -154662,7 +152769,6 @@ SubClassOf( (Neurenteric cyst) AnnotationAssertion(Annotation( ) Annotation( "PMID:20890417") "The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.") -AnnotationAssertion( "MSH:D009436") AnnotationAssertion( "SNOMEDCT_US:253127008") AnnotationAssertion( "SNOMEDCT_US:41353005") AnnotationAssertion( "UMLS:C0027806") @@ -154710,7 +152816,6 @@ SubClassOf( (Carcinoma) AnnotationAssertion(Annotation( ) "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).") -AnnotationAssertion( "MSH:D002277") AnnotationAssertion( "NCIT:C2916") AnnotationAssertion( "SNOMEDCT_US:68453008") AnnotationAssertion( "UMLS:C0007097") @@ -154902,7 +153007,6 @@ SubClassOf( (Allantoic cyst) AnnotationAssertion(Annotation( ) Annotation( "PMID:24950576") Annotation( "PMID:26213613") "A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.") -AnnotationAssertion( "MSH:D014496") AnnotationAssertion( "SNOMEDCT_US:17234001") AnnotationAssertion( "UMLS:C0041915") AnnotationAssertion(rdfs:label "Allantoic cyst") @@ -154985,7 +153089,6 @@ SubClassOf( (Ochronosis) AnnotationAssertion(Annotation( ) Annotation( "PMID:24447956") Annotation( "PMID:26929770") "Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.") -AnnotationAssertion( "MSH:D009794") AnnotationAssertion( "SNOMEDCT_US:410042009") AnnotationAssertion( "UMLS:C0028817") AnnotationAssertion( "Ochronotic arthritis") @@ -155001,7 +153104,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D020184") AnnotationAssertion( "SNOMEDCT_US:89675003") AnnotationAssertion( "UMLS:C0037320") AnnotationAssertion( "Night terror") @@ -155014,7 +153116,6 @@ SubClassOf( (Ear pain) AnnotationAssertion(Annotation( "PMID:20736106") "Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).") -AnnotationAssertion( "MSH:D004433") AnnotationAssertion( "SNOMEDCT_US:16001004") AnnotationAssertion( "SNOMEDCT_US:162356005") AnnotationAssertion( "UMLS:C0013456") @@ -155038,7 +153139,6 @@ SubClassOf( (Exencephaly) AnnotationAssertion(Annotation( ) Annotation( "PMID:21887200") "A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.") -AnnotationAssertion( "MSH:D009436") AnnotationAssertion( "SNOMEDCT_US:84461004") AnnotationAssertion( "UMLS:C0266453") AnnotationAssertion(rdfs:label "Exencephaly") @@ -155047,7 +153147,6 @@ SubClassOf( (Craniorachischisis) AnnotationAssertion(Annotation( ) Annotation( "PMID:22095531") "A neural tube defect in which both the brain and spinal cord remain open to varying degrees.") -AnnotationAssertion( "MSH:D009436") AnnotationAssertion( "SNOMEDCT_US:32219008") AnnotationAssertion( "UMLS:C0152426") AnnotationAssertion(rdfs:label "Craniorachischisis") @@ -155072,7 +153171,6 @@ SubClassOf( (Internuclear ophthalmoplegia) AnnotationAssertion(Annotation( ) Annotation( "PMID:1344079") Annotation( "PMID:21687160") Annotation( "PMID:25145891") "An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.") -AnnotationAssertion( "MSH:D015835") AnnotationAssertion( "SNOMEDCT_US:49823009") AnnotationAssertion( "UMLS:C0152134") AnnotationAssertion(rdfs:label "Internuclear ophthalmoplegia") @@ -155081,7 +153179,6 @@ SubClassOf( (Mitochondrial swelling) AnnotationAssertion(Annotation( ) Annotation( "PMID:22907871") "The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.") -AnnotationAssertion( "MSH:D008933") AnnotationAssertion( "SNOMEDCT_US:125429001") AnnotationAssertion( "UMLS:C0026244") AnnotationAssertion(rdfs:label "Mitochondrial swelling") @@ -155158,7 +153255,6 @@ SubClassOf( (Anomic aphasia) AnnotationAssertion(Annotation( ) Annotation( "PMID:18348092") "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.") -AnnotationAssertion( "MSH:D000849") AnnotationAssertion( "SNOMEDCT_US:10325006") AnnotationAssertion( "UMLS:C0003113") AnnotationAssertion( "Amnesic aphasia") @@ -155229,7 +153325,6 @@ SubClassOf( (Jaw neoplasm) AnnotationAssertion(Annotation( ) "A tumor originating in the jaw (mandible or maxilla).") -AnnotationAssertion( "MSH:D007573") AnnotationAssertion( "SNOMEDCT_US:126634001") AnnotationAssertion( "UMLS:C0022364") AnnotationAssertion(rdfs:label "Jaw neoplasm") @@ -155287,7 +153382,6 @@ SubClassOf( (Scaphocephaly) AnnotationAssertion(Annotation( ) Annotation( "PMID:16156241") Annotation( "PMID:23960302") "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.") -AnnotationAssertion( "MSH:D003398") AnnotationAssertion( "SNOMEDCT_US:4191007") AnnotationAssertion( "UMLS:C0265534") AnnotationAssertion(rdfs:comment "Dolichocephaly is a term in wide use to describe any long narrow head, with a cephalic index usually below 75%. Scaphocephaly, derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head that resembles an inverted boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance to the skull, with the widest part of the skull in the temporal rather than parietal area and with palpable ridging over part or all of the sagittal suture (PMID:16156241).") @@ -155385,7 +153479,6 @@ SubClassOf( (Tongue pain) AnnotationAssertion(Annotation( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.") -AnnotationAssertion( "MSH:D005926") AnnotationAssertion( "SNOMEDCT_US:30731004") AnnotationAssertion( "UMLS:C0017672") AnnotationAssertion( "Painful tongue") @@ -155441,7 +153534,6 @@ SubClassOf( (Gingival recession) AnnotationAssertion( "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.") -AnnotationAssertion( "MSH:D005889") AnnotationAssertion( "SNOMEDCT_US:4356008") AnnotationAssertion( "UMLS:C0017572") AnnotationAssertion( "Gum recession") @@ -155541,7 +153633,6 @@ SubClassOf( (Wheezing) AnnotationAssertion(Annotation( ) Annotation( "PMID:26229557") "A high-pitched whistling sound associated with labored breathing.") -AnnotationAssertion( "MSH:D012135") AnnotationAssertion( "SNOMEDCT_US:56018004") AnnotationAssertion( "UMLS:C0043144") AnnotationAssertion(Annotation( ) "Wheezing") @@ -155561,7 +153652,6 @@ SubClassOf( (Crackles) AnnotationAssertion(Annotation( ) Annotation( "PMID:26229557") "Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.") -AnnotationAssertion( "MSH:D012135") AnnotationAssertion( "SNOMEDCT_US:48409008") AnnotationAssertion( "UMLS:C0034642") AnnotationAssertion( "Crepitations") @@ -155573,7 +153663,6 @@ SubClassOf( (Rhonchi) AnnotationAssertion(Annotation( ) Annotation( "PMID:26229557") "Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.") -AnnotationAssertion( "MSH:D012135") AnnotationAssertion( "SNOMEDCT_US:24612001") AnnotationAssertion( "UMLS:C0035508") AnnotationAssertion(rdfs:comment "Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less.") @@ -155591,7 +153680,6 @@ SubClassOf( (Neck pain) AnnotationAssertion(Annotation( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.") -AnnotationAssertion( "MSH:D019547") AnnotationAssertion( "SNOMEDCT_US:81680005") AnnotationAssertion( "UMLS:C0007859") AnnotationAssertion(Annotation( ) "Neck pain") @@ -155601,7 +153689,6 @@ SubClassOf( (Shoulder pain) AnnotationAssertion(Annotation( ) "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.") -AnnotationAssertion( "MSH:D020069") AnnotationAssertion( "SNOMEDCT_US:45326000") AnnotationAssertion( "UMLS:C0037011") AnnotationAssertion(Annotation( ) "Shoulder pain") @@ -155768,7 +153855,6 @@ SubClassOf( ) Annotation( "PMID:21731561") "An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.") AnnotationAssertion( "Fyler:0190") AnnotationAssertion( "Fyler:190") -AnnotationAssertion( "MSH:D059446") AnnotationAssertion( "SNOMEDCT_US:14821001") AnnotationAssertion( "SNOMEDCT_US:24614000") AnnotationAssertion( "UMLS:C0266642") @@ -155825,7 +153911,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:contributor ) -AnnotationAssertion( "MSH:D016739") AnnotationAssertion( "SNOMEDCT_US:32709003") AnnotationAssertion( "UMLS:C0085281") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Addictive behaviour") @@ -155927,7 +154012,6 @@ SubClassOf( (Anorchism) AnnotationAssertion(Annotation( ) "An abnormality of XY sexual development characterized by the absence of both testes at birth.") -AnnotationAssertion( "MSH:C537770") AnnotationAssertion( "SNOMEDCT_US:371015003") AnnotationAssertion( "UMLS:C1261504") AnnotationAssertion(rdfs:label "Anorchism") @@ -156039,7 +154123,6 @@ SubClassOf( (Raynaud phenomenon) -AnnotationAssertion( "MSH:D011928") AnnotationAssertion( "SNOMEDCT_US:266261006") AnnotationAssertion( "UMLS:C0034735") AnnotationAssertion( "Raynaud's phenomenon") @@ -156070,7 +154153,6 @@ SubClassOf( (Femoroacetabular impingement) AnnotationAssertion(Annotation( "PMID:22108232") "Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.") -AnnotationAssertion( "MSH:D057925") AnnotationAssertion( "SNOMEDCT_US:432473000") AnnotationAssertion( "UMLS:C2936290") AnnotationAssertion( "Femoral acetabular impingement") @@ -164360,7 +162442,6 @@ SubClassOf( "A break or crush injury of the thigh bone (femur).") AnnotationAssertion(dc:date "2018-05-05T15:37:43Z"^^xsd:dateTime) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D005264") AnnotationAssertion( "Femoral fracture") AnnotationAssertion(rdfs:label "Femur fracture") SubClassOf( ) @@ -192202,7 +190283,6 @@ SubClassOf( ) Annotation( "PMID:12407692") "Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D019457") AnnotationAssertion( "UMLS:C0376628") AnnotationAssertion( "High frequency of chromosome breaks in lymphocytes") AnnotationAssertion( "Increased chromosomal breakage") @@ -192506,7 +190586,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D008269") AnnotationAssertion( "SNOMEDCT_US:37231002") AnnotationAssertion( "UMLS:C0271051") AnnotationAssertion(Annotation( ) "Macular oedema") @@ -192737,7 +190816,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Hypopituitarism) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D007018") AnnotationAssertion( "SNOMEDCT_US:74728003") AnnotationAssertion( "UMLS:C0020635") AnnotationAssertion(rdfs:label "Hypopituitarism") @@ -193063,7 +191141,6 @@ SubClassOf( (Old-aged sensorineural hearing impairment) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D011304") AnnotationAssertion( "SNOMEDCT_US:49526009") AnnotationAssertion( "UMLS:C0033074") AnnotationAssertion( "Presbycusis") @@ -193293,7 +191370,6 @@ SubClassOf( (Tardive dyskinesia) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D000071057") AnnotationAssertion( "UMLS:C0686347") AnnotationAssertion(rdfs:comment "the involuntary movements are tardive, meaning they have a slow or belated onset") AnnotationAssertion(rdfs:label "Tardive dyskinesia") @@ -193303,7 +191379,6 @@ SubClassOf( "PMID:6790862") "Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:C535322") AnnotationAssertion( "SNOMEDCT_US:26132002") AnnotationAssertion( "UMLS:C0268525") AnnotationAssertion( "5-oxoprolinase deficiency") @@ -193381,7 +191456,6 @@ SubClassOf( (Epiblepharon of upper lid) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:C565051") AnnotationAssertion( "UMLS:C1851582") AnnotationAssertion(rdfs:label "Epiblepharon of upper lid") SubClassOf( ) @@ -193389,7 +191463,6 @@ SubClassOf( (Epiblepharon of lower lid) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:C565051") AnnotationAssertion( "UMLS:C1851583") AnnotationAssertion(rdfs:label "Epiblepharon of lower lid") SubClassOf( ) @@ -193398,7 +191471,6 @@ SubClassOf( "https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx") "A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D017497") AnnotationAssertion( "SNOMEDCT_US:59393003") AnnotationAssertion( "UMLS:C0162836") AnnotationAssertion(Annotation( ) "Hidradenitis suppurativa") @@ -193456,7 +191528,6 @@ SubClassOf( (Generalized osteoporosis) AnnotationAssertion( "HP:0005744") -AnnotationAssertion( "MSH:D010024") AnnotationAssertion( "SNOMEDCT_US:64859006") AnnotationAssertion( "UMLS:C0029456") AnnotationAssertion( "UMLS:C3805887") @@ -193503,7 +191574,6 @@ SubClassOf( (Periostitis) AnnotationAssertion( "Inflammation of the periosteum") -AnnotationAssertion( "MSH:D010522") AnnotationAssertion( "SNOMEDCT_US:41910004") AnnotationAssertion( "UMLS:C0031111") AnnotationAssertion( "Periostalgia") @@ -193594,7 +191664,6 @@ SubClassOf( (Platelet-activating factor acetylhydrolase deficiency) AnnotationAssertion( "Reduced level of platelet-activating factor acetylhydrolase.") -AnnotationAssertion( "MSH:C566640") AnnotationAssertion( "UMLS:C3280315") AnnotationAssertion(rdfs:label "Platelet-activating factor acetylhydrolase deficiency") SubClassOf( ) @@ -193643,7 +191712,6 @@ AnnotationAssertion(owl:deprecated " # Class: (Chapped lip) AnnotationAssertion( "Cracking, fissuring, and peeling of the skin of the lips.") -AnnotationAssertion( "MSH:D019557") AnnotationAssertion( "SNOMEDCT_US:16459000") AnnotationAssertion( "SNOMEDCT_US:238751002") AnnotationAssertion( "SNOMEDCT_US:248182008") @@ -193678,7 +191746,6 @@ SubClassOf( (Oral bleeding) -AnnotationAssertion( "MSH:D006472") AnnotationAssertion( "SNOMEDCT_US:22490002") AnnotationAssertion( "UMLS:C0029163") AnnotationAssertion(Annotation( ) "Oral bleeding") @@ -193709,7 +191776,6 @@ SubClassOf( (Neonatal sepsis) AnnotationAssertion(Annotation( "PMID:4067741") "Systemic inflammatory response to infection in newborn babies.") -AnnotationAssertion( "MSH:D000071074") AnnotationAssertion( "SNOMEDCT_US:206376005") AnnotationAssertion( "UMLS:C0456103") AnnotationAssertion(rdfs:label "Neonatal sepsis") @@ -193719,7 +191785,6 @@ SubClassOf( "Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D055034") AnnotationAssertion( "SNOMEDCT_US:19579005") AnnotationAssertion( "UMLS:C0029429") AnnotationAssertion(rdfs:label "Osteochondrosis") @@ -193761,7 +191826,6 @@ SubClassOf( "An endocrine tumor arising from an APUD cell.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D001079") AnnotationAssertion( "SNOMEDCT_US:253008000") AnnotationAssertion( "SNOMEDCT_US:74926005") AnnotationAssertion( "UMLS:C0003650") @@ -193807,7 +191871,6 @@ SubClassOf( ) "Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D004678") AnnotationAssertion( "SNOMEDCT_US:58762006") AnnotationAssertion( "UMLS:C0014068") AnnotationAssertion(Annotation( ) "Cerebral softening") @@ -193816,7 +191879,6 @@ SubClassOf( (Non-medullary thyroid carcinoma) -AnnotationAssertion( "MSH:C536915") AnnotationAssertion( "UMLS:C3501843") AnnotationAssertion( "Nonmedullary thyroid carcinoma") AnnotationAssertion( "Thyroid cancer, nonmedullary") @@ -194147,7 +192209,6 @@ SubClassOf( (Factor XIII subunit A deficiency) AnnotationAssertion( "Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.") -AnnotationAssertion( "MSH:C567691") AnnotationAssertion( "UMLS:C2750514") AnnotationAssertion( "Reduced factor XIII, subunit A") AnnotationAssertion(rdfs:comment "Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium") @@ -194157,7 +192218,6 @@ SubClassOf( (Factor XIII subunit B deficiency) AnnotationAssertion( "Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.") -AnnotationAssertion( "MSH:C567688") AnnotationAssertion( "UMLS:C2750481") AnnotationAssertion( "Reduced factor XIII, subunit B") AnnotationAssertion(rdfs:comment "Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium") @@ -194395,7 +192455,6 @@ SubClassOf( (Glue ear) AnnotationAssertion(Annotation( "PMID:10993548") Annotation( "PMID:11802055") Annotation( "PMID:21653931") "Middle ear is filled with glue-like fluid instead of air.") -AnnotationAssertion( "MSH:D010034") AnnotationAssertion( "SNOMEDCT_US:78868004") AnnotationAssertion( "UMLS:C0029883") AnnotationAssertion(rdfs:comment "In some contexts, glue ear is used interchangeably with otitis media with effusion (OME) (PMID:21653931). Some authors use glue ear to refer to a subtype of OME characterized by thick, glue-like fluid buildup in the middle ear (mucoid otitis media) (PMID:10993548). Serous otitis media is usually responsive to medical treatment, whereas mucoid otitis media is not. This term refers to the mucoid subtype.") @@ -196552,7 +194611,6 @@ SubClassOf( ) Annotation( "PMID:19808787") "A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D009436") AnnotationAssertion( "SNOMEDCT_US:253098009") AnnotationAssertion( "UMLS:C0027794") AnnotationAssertion( "Abnormality of neural tube closure") @@ -196711,7 +194769,6 @@ SubClassOf( "https://medlineplus.gov/ency/article/000447.htm") "Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:C562487") AnnotationAssertion( "SNOMEDCT_US:24129002") AnnotationAssertion( "UMLS:C0264005") AnnotationAssertion(rdfs:label "Eosinophilic fasciitis") @@ -196757,7 +194814,6 @@ SubClassOf( "Lymphoma that originates in the stomach itself.") AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:C535648") AnnotationAssertion( "SNOMEDCT_US:276811008") AnnotationAssertion( "UMLS:C0349532") AnnotationAssertion( "Primary gastric lymphoma") @@ -196788,7 +194844,6 @@ SubClassOf( (Reduced circulating lactate dehydrogenase concentration) AnnotationAssertion( "Concentration of lactate dehydrogenase in the blood circulation below the lower limit of normal.") -AnnotationAssertion( "MSH:C563641") AnnotationAssertion( "UMLS:C3279904") AnnotationAssertion(rdfs:comment "Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate.") AnnotationAssertion(rdfs:label "Reduced circulating lactate dehydrogenase concentration") @@ -196849,7 +194904,6 @@ SubClassOf( (HbS hemoglobin) AnnotationAssertion(Annotation( ) Annotation( "PMID:34406727") Annotation( "PMID:3953566") "Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.") -AnnotationAssertion( "MSH:D006451") AnnotationAssertion( "SNOMEDCT_US:50095005") AnnotationAssertion( "UMLS:C0019043") AnnotationAssertion(Annotation( ) "HbS haemoglobin") @@ -196916,7 +194970,6 @@ SubClassOf( (Brachial plexus neuropathy) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D020516") AnnotationAssertion( "SNOMEDCT_US:3548001") AnnotationAssertion( "UMLS:C0700251") AnnotationAssertion(rdfs:comment "Related to ticket: https://github.com/obophenotype/human-phenotype-ontology/issues/484") @@ -197184,7 +195237,6 @@ SubClassOf( ) "Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-11T04:10:29Z") -AnnotationAssertion( "MSH:C562839") AnnotationAssertion( "SNOMEDCT_US:62064005") AnnotationAssertion( "UMLS:C0345967") AnnotationAssertion( "HP:0100001") @@ -197248,7 +195300,6 @@ SubClassOf( ) "A neoplasm of the central nervous system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-14T09:11:53Z") -AnnotationAssertion( "MSH:D016543") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126951006") AnnotationAssertion( "UMLS:C0085136") @@ -197266,7 +195317,6 @@ SubClassOf( ) "A benign or malignant neoplasm (tumor) of the peripheral nervous system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-14T09:11:53Z") -AnnotationAssertion( "MSH:D010524") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126980002") AnnotationAssertion( "UMLS:C0031118") @@ -197282,7 +195332,6 @@ SubClassOf( ) "A benign nerve sheath tumor composed of Schwann cells.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-14T09:13:07Z") -AnnotationAssertion( "MSH:D009442") AnnotationAssertion( "SNOMEDCT_US:404022001") AnnotationAssertion( "SNOMEDCT_US:985004") AnnotationAssertion( "UMLS:C0027809") @@ -197301,7 +195350,6 @@ SubClassOf( ) AnnotationAssertion( "2010-05-14T09:29:27Z") -AnnotationAssertion( "MSH:D008579") AnnotationAssertion( "SNOMEDCT_US:302820008") AnnotationAssertion( "UMLS:C0349604") AnnotationAssertion( "HP:0100009") @@ -197312,7 +195360,6 @@ SubClassOf( ) AnnotationAssertion( "2010-05-14T09:29:27Z") -AnnotationAssertion( "MSH:D008579") AnnotationAssertion( "NCIT:C3230") AnnotationAssertion( "SNOMEDCT_US:189167009") AnnotationAssertion( "UMLS:C0347515") @@ -197337,7 +195384,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the eye.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-14T09:43:34Z") -AnnotationAssertion( "MSH:D005134") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:371486001") AnnotationAssertion( "UMLS:C0015414") @@ -197355,7 +195401,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-05-14T09:45:09Z") AnnotationAssertion( "HP:0010623") -AnnotationAssertion( "MSH:D001943") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126926005") AnnotationAssertion( "UMLS:C1458155") @@ -197373,7 +195418,6 @@ SubClassOf( ) "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-14T09:53:27Z") -AnnotationAssertion( "MSH:D019773") AnnotationAssertion( "SNOMEDCT_US:133853005") AnnotationAssertion( "SNOMEDCT_US:367649002") AnnotationAssertion( "UMLS:C0339543") @@ -197468,7 +195512,6 @@ SubClassOf( ) "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-28T11:46:16Z") -AnnotationAssertion( "MSH:D002547") AnnotationAssertion( "SNOMEDCT_US:128188000") AnnotationAssertion( "UMLS:C0007789") AnnotationAssertion(Annotation( ) "CP") @@ -197484,7 +195527,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-05-28T11:48:50Z") AnnotationAssertion( "HP:0001294") -AnnotationAssertion( "MSH:D009069") AnnotationAssertion( "SNOMEDCT_US:60342002") AnnotationAssertion( "UMLS:C0026650") AnnotationAssertion(Annotation( ) "Abnormality of movement") @@ -197552,7 +195594,6 @@ SubClassOf( ) "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-05-31T05:32:31Z") -AnnotationAssertion( "MSH:D001165") AnnotationAssertion( "SNOMEDCT_US:234141001") AnnotationAssertion( "SNOMEDCT_US:24551003") AnnotationAssertion( "UMLS:C0003857") @@ -197566,7 +195607,6 @@ SubClassOf( ) "A recurrent form of pancreatitis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-01T01:45:23Z") -AnnotationAssertion( "MSH:D050500") AnnotationAssertion( "SNOMEDCT_US:233870001") AnnotationAssertion( "SNOMEDCT_US:234689009") AnnotationAssertion( "SNOMEDCT_US:235494005") @@ -197582,7 +195622,6 @@ SubClassOf( ) "Mislocalised thyroid gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-10T10:16:37Z") -AnnotationAssertion( "MSH:D050033") AnnotationAssertion( "SNOMEDCT_US:214660000") AnnotationAssertion( "UMLS:C0266283") AnnotationAssertion(Annotation( ) "Aberrant thyroid") @@ -197601,7 +195640,6 @@ SubClassOf( ) "An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-10T10:20:31Z") -AnnotationAssertion( "MSH:D046151") AnnotationAssertion( "SNOMEDCT_US:129123002") AnnotationAssertion( "SNOMEDCT_US:21279007") AnnotationAssertion( "UMLS:C0266284") @@ -197626,7 +195664,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the thyroid gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-10T10:30:24Z") -AnnotationAssertion( "MSH:D013964") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:127018007") AnnotationAssertion( "UMLS:C0040136") @@ -197663,7 +195700,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-10T12:13:57Z") -AnnotationAssertion( "MSH:D020323") AnnotationAssertion( "UMLS:C0751900") AnnotationAssertion( "HP:0100034") AnnotationAssertion(rdfs:label "Motor tics") @@ -197679,7 +195715,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-10T12:13:57Z") -AnnotationAssertion( "MSH:D020323") AnnotationAssertion( "UMLS:C0751901") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Verbal tics") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Vocal tics") @@ -200239,7 +198274,6 @@ SubClassOf( ) "A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-08T10:43:57Z") -AnnotationAssertion( "MSH:D012509") AnnotationAssertion( "NCIT:C9118") AnnotationAssertion( "SNOMEDCT_US:2424003") AnnotationAssertion( "SNOMEDCT_US:269469005") @@ -200259,7 +198293,6 @@ SubClassOf( ) "A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-08T10:49:35Z") -AnnotationAssertion( "MSH:D007890") AnnotationAssertion( "NCIT:C3158") AnnotationAssertion( "SNOMEDCT_US:443719001") AnnotationAssertion( "SNOMEDCT_US:51549004") @@ -200273,7 +198306,6 @@ SubClassOf( ) "A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-08T10:55:40Z") -AnnotationAssertion( "MSH:D005354") AnnotationAssertion( "NCIT:C6605") AnnotationAssertion( "SNOMEDCT_US:443250000") AnnotationAssertion( "SNOMEDCT_US:53654007") @@ -200287,7 +198319,6 @@ SubClassOf( ) "Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-08T10:57:06Z") -AnnotationAssertion( "MSH:D018222") AnnotationAssertion( "NCIT:C3042") AnnotationAssertion( "SNOMEDCT_US:399994005") AnnotationAssertion( "SNOMEDCT_US:400055004") @@ -200306,7 +198337,6 @@ SubClassOf( ) "Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-08T11:38:30Z") -AnnotationAssertion( "MSH:D010016") AnnotationAssertion( "NCIT:C3296") AnnotationAssertion( "SNOMEDCT_US:302858007") AnnotationAssertion( "SNOMEDCT_US:83612000") @@ -200320,7 +198350,6 @@ SubClassOf( ) "A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-08T05:28:00Z") -AnnotationAssertion( "MSH:D006606") AnnotationAssertion( "SNOMEDCT_US:65958008") AnnotationAssertion( "UMLS:C0019521") AnnotationAssertion( "UMLS:C0744897") @@ -200339,7 +198368,6 @@ SubClassOf( ) "Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-09T12:21:41Z") -AnnotationAssertion( "MSH:D020820") AnnotationAssertion( "SNOMEDCT_US:66637005") AnnotationAssertion( "UMLS:C0221169") AnnotationAssertion( "Ballismus") @@ -200394,7 +198422,6 @@ SubClassOf( ) AnnotationAssertion( "2010-07-14T05:01:38Z") -AnnotationAssertion( "MSH:D003966") AnnotationAssertion( "SNOMEDCT_US:318761000119105") AnnotationAssertion( "SNOMEDCT_US:34643004") AnnotationAssertion( "UMLS:C0011989") @@ -200435,7 +198462,6 @@ AnnotationAssertion( "HP:0005704") AnnotationAssertion( "HP:0005899") AnnotationAssertion( "HP:0006427") -AnnotationAssertion( "MSH:C536252") AnnotationAssertion( "SNOMEDCT_US:27837003") AnnotationAssertion( "UMLS:C0265294") AnnotationAssertion( "HP:0100255") @@ -200449,7 +198475,6 @@ SubClassOf( ) "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-15T02:43:44Z") -AnnotationAssertion( "MSH:D058225") AnnotationAssertion( "SNOMEDCT_US:38551001") AnnotationAssertion( "UMLS:C0333463") AnnotationAssertion( "Braindruse") @@ -200465,7 +198490,6 @@ SubClassOf( ) "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-07-15T03:56:58Z") -AnnotationAssertion( "MSH:C574275") AnnotationAssertion( "SNOMEDCT_US:13624003") AnnotationAssertion( "SNOMEDCT_US:81208006") AnnotationAssertion( "UMLS:C0265554") @@ -200496,7 +198520,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-07-20T11:00:32Z") AnnotationAssertion( "HP:0005808") -AnnotationAssertion( "MSH:C562429") AnnotationAssertion( "UMLS:C0220697") AnnotationAssertion( "Polydactyly, postaxial") AnnotationAssertion( "Postaxial hexadactyly") @@ -200548,7 +198571,6 @@ SubClassOf( ) AnnotationAssertion( "2010-07-20T03:00:19Z") -AnnotationAssertion( "MSH:C566099") AnnotationAssertion( "UMLS:C1861401") AnnotationAssertion( "Symphalangism, distal") AnnotationAssertion( "HP:0100263") @@ -200559,7 +198581,6 @@ SubClassOf( ) AnnotationAssertion( "2010-07-20T03:00:19Z") -AnnotationAssertion( "MSH:C536223") AnnotationAssertion( "UMLS:C1861385") AnnotationAssertion(Annotation( ) "Cushing's symphalangism") AnnotationAssertion( "HP:0100264") @@ -200667,7 +198688,6 @@ SubClassOf( ) AnnotationAssertion( "2010-07-28T05:37:31Z") -AnnotationAssertion( "MSH:D003110") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126838000") AnnotationAssertion( "UMLS:C0009375") @@ -200735,7 +198755,6 @@ SubClassOf( ) "A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-10T09:25:44Z") -AnnotationAssertion( "MSH:D003093") AnnotationAssertion( "SNOMEDCT_US:64766004") AnnotationAssertion( "UMLS:C0009324") AnnotationAssertion( "Colitis ulcerosa") @@ -200748,7 +198767,6 @@ SubClassOf( ) "A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-10T09:26:05Z") -AnnotationAssertion( "MSH:D003424") AnnotationAssertion( "SNOMEDCT_US:34000006") AnnotationAssertion( "UMLS:C0010346") AnnotationAssertion( "Granulomatous enteritis and colitis") @@ -201051,7 +199069,6 @@ SubClassOf( ) "Hemorrhage occurring between the dura mater and the arachnoid mater.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-10T03:01:08Z") -AnnotationAssertion( "MSH:D006408") AnnotationAssertion( "SNOMEDCT_US:35486000") AnnotationAssertion( "SNOMEDCT_US:95453001") AnnotationAssertion( "UMLS:C0018946") @@ -201068,7 +199085,6 @@ SubClassOf( ) "Hemorrhage occurring between the dura mater and the skull.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-08-10T03:05:35Z") -AnnotationAssertion( "MSH:D006407") AnnotationAssertion( "SNOMEDCT_US:428268007") AnnotationAssertion( "SNOMEDCT_US:82999001") AnnotationAssertion( "UMLS:C0238154") @@ -201132,8 +199148,6 @@ SubClassOf( ) AnnotationAssertion( "2010-08-10T03:32:14Z") -AnnotationAssertion( "MSH:D016631") -AnnotationAssertion( "MSH:D020961") AnnotationAssertion( "SNOMEDCT_US:312991009") AnnotationAssertion( "SNOMEDCT_US:43127003") AnnotationAssertion( "SNOMEDCT_US:80098002") @@ -201243,7 +199257,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-08-10T04:14:42Z") AnnotationAssertion( "HP:0001594") AnnotationAssertion( "HP:0007426") -AnnotationAssertion( "MSH:D012594") AnnotationAssertion( "SNOMEDCT_US:403524003") AnnotationAssertion( "SNOMEDCT_US:89155008") AnnotationAssertion( "UMLS:C0011644") @@ -203151,7 +201164,6 @@ SubClassOf( ) "The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-17T04:06:36Z") -AnnotationAssertion( "MSH:D008415") AnnotationAssertion( "SNOMEDCT_US:125541005") AnnotationAssertion( "SNOMEDCT_US:397007003") AnnotationAssertion( "UMLS:C0024899") @@ -203175,7 +201187,6 @@ SubClassOf( ) AnnotationAssertion( "2010-12-17T04:14:51Z") -AnnotationAssertion( "MSH:D010383") AnnotationAssertion( "SNOMEDCT_US:418186002") AnnotationAssertion( "SNOMEDCT_US:418279001") AnnotationAssertion( "UMLS:C0030783") @@ -203230,7 +201241,6 @@ SubClassOf( "The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-17T06:00:43Z") -AnnotationAssertion( "MSH:D014806") AnnotationAssertion( "SNOMEDCT_US:190634004") AnnotationAssertion( "UMLS:C0042847") AnnotationAssertion( "Vitamin B12 deficiency") @@ -203244,7 +201254,6 @@ SubClassOf( "The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-17T06:13:04Z") -AnnotationAssertion( "MSH:D013832") AnnotationAssertion( "SNOMEDCT_US:399357009") AnnotationAssertion( "UMLS:C0039841") AnnotationAssertion( "Low levels of vitamin B1") @@ -203259,7 +201268,6 @@ SubClassOf( "The concentration of vitamin B2 in the blood circulation is below the lower limit of normal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-17T06:13:04Z") -AnnotationAssertion( "MSH:D012257") AnnotationAssertion( "SNOMEDCT_US:20307000") AnnotationAssertion( "UMLS:C0035528") AnnotationAssertion( "Low levels of vitamin B2") @@ -203298,7 +201306,6 @@ SubClassOf( ) "A reduced circulating concentration of folic acid, which is also known as vitamin B9.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-17T06:13:04Z") -AnnotationAssertion( "MSH:D005494") AnnotationAssertion( "SNOMEDCT_US:190633005") AnnotationAssertion( "UMLS:C0016412") AnnotationAssertion(Annotation( ) "Folate deficiency") @@ -203337,7 +201344,6 @@ SubClassOf( "The concentration of vitamin C in the blood circulation is below the lower limit of normal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-17T06:18:50Z") -AnnotationAssertion( "MSH:D001206") AnnotationAssertion( "SNOMEDCT_US:76169001") AnnotationAssertion( "UMLS:C0003969") AnnotationAssertion( "Low levels of vitamin C") @@ -203363,7 +201369,6 @@ SubClassOf( "The concentration of vitamin D in the blood circulation is below the lower limit of normal.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-17T06:19:35Z") -AnnotationAssertion( "MSH:D014808") AnnotationAssertion( "SNOMEDCT_US:34713006") AnnotationAssertion( "UMLS:C0042870") AnnotationAssertion(Annotation( ) "Deficient in vitamin D") @@ -203379,7 +201384,6 @@ SubClassOf( "PMID:30559825") "A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-17T06:20:12Z") -AnnotationAssertion( "MSH:D014811") AnnotationAssertion( "SNOMEDCT_US:54137008") AnnotationAssertion( "UMLS:C0042875") AnnotationAssertion(Annotation( ) Annotation( ) "Alpha-tocopherol deficiency") @@ -203420,7 +201424,6 @@ SubClassOf( ) "The presence of a neoplasm of the ureter.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T10:35:11Z") -AnnotationAssertion( "MSH:D014516") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126882009") AnnotationAssertion( "SNOMEDCT_US:363458004") @@ -203438,7 +201441,6 @@ SubClassOf( ) "The presence of a neoplasm of the urethra.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T10:36:17Z") -AnnotationAssertion( "MSH:D014523") AnnotationAssertion( "NCIT:C2974") AnnotationAssertion( "SNOMEDCT_US:126883004") AnnotationAssertion( "UMLS:C0041971") @@ -203453,7 +201455,6 @@ SubClassOf( ) "Painful or difficult urination.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T10:40:36Z") -AnnotationAssertion( "MSH:D053159") AnnotationAssertion( "SNOMEDCT_US:49650001") AnnotationAssertion( "UMLS:C0013428") AnnotationAssertion(Annotation( ) Annotation( ) "Painful or difficult urination") @@ -203467,7 +201468,6 @@ SubClassOf( ) "Absence of urine, clinically classified as below 50ml/day.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T10:41:00Z") -AnnotationAssertion( "MSH:D001002") AnnotationAssertion( "SNOMEDCT_US:2472002") AnnotationAssertion( "UMLS:C0003460") AnnotationAssertion(Annotation( ) Annotation( ) "Absent urine output") @@ -203481,7 +201481,6 @@ SubClassOf( ) "Low output of urine, clinically classified as an output below 300-500ml/day.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T10:42:40Z") -AnnotationAssertion( "MSH:D009846") AnnotationAssertion( "SNOMEDCT_US:718403007") AnnotationAssertion( "SNOMEDCT_US:83128009") AnnotationAssertion( "UMLS:C0028961") @@ -203495,7 +201494,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the thymus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T11:02:03Z") -AnnotationAssertion( "MSH:D013953") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:127231009") AnnotationAssertion( "UMLS:C3714644") @@ -203509,7 +201507,6 @@ SubClassOf( ) "A tumor originating from the epithelial cells of the thymus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T11:02:22Z") -AnnotationAssertion( "MSH:D013945") AnnotationAssertion( "NCIT:C3411") AnnotationAssertion( "SNOMEDCT_US:128856005") AnnotationAssertion( "SNOMEDCT_US:444231005") @@ -203525,7 +201522,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-20T11:13:14Z") AnnotationAssertion( "HP:0001400") -AnnotationAssertion( "MSH:D008100") AnnotationAssertion( "SNOMEDCT_US:27916005") AnnotationAssertion( "UMLS:C0023885") AnnotationAssertion( "Hepatic abscess") @@ -203570,7 +201566,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-20T11:47:12Z") AnnotationAssertion(Annotation( ) "Lung cancer") -AnnotationAssertion( "MSH:D008175") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126713003") AnnotationAssertion( "UMLS:C0024121") @@ -203597,7 +201592,6 @@ SubClassOf( ) "A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T11:48:57Z") -AnnotationAssertion( "MSH:C537516") AnnotationAssertion( "NCIT:C3732") AnnotationAssertion( "SNOMEDCT_US:128763002") AnnotationAssertion( "SNOMEDCT_US:707670009") @@ -203650,7 +201644,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-20T03:50:04Z") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the outer white part of the eye") -AnnotationAssertion( "MSH:D015423") AnnotationAssertion( "SNOMEDCT_US:78370002") AnnotationAssertion( "UMLS:C0036416") AnnotationAssertion( "HP:0100532") @@ -203680,7 +201673,6 @@ SubClassOf( ) "Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T05:48:22Z") -AnnotationAssertion( "MSH:D015423") AnnotationAssertion( "SNOMEDCT_US:815008") AnnotationAssertion( "UMLS:C0014583") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the thin layer on top of the white part of eye") @@ -203717,7 +201709,6 @@ SubClassOf( ) "Inflammation of fascia, the tissue under the skin and over the muscle.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T05:59:18Z") -AnnotationAssertion( "MSH:D005208") AnnotationAssertion( "SNOMEDCT_US:36948007") AnnotationAssertion( "UMLS:C0015645") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the fascia") @@ -203790,7 +201781,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-20T06:16:40Z") AnnotationAssertion(Annotation(rdfs:label "Femoral hernia") "MEDDRA:10016434") -AnnotationAssertion( "MSH:D006550") AnnotationAssertion( "SNOMEDCT_US:50063009") AnnotationAssertion( "UMLS:C0019288") AnnotationAssertion( "Crural hernia") @@ -203825,7 +201815,6 @@ AnnotationAssertion( "HP:0006972") AnnotationAssertion( "HP:0006998") AnnotationAssertion( "HP:0007211") -AnnotationAssertion( "MSH:D060825") AnnotationAssertion( "SNOMEDCT_US:386806002") AnnotationAssertion( "UMLS:C0338656") AnnotationAssertion( "UMLS:C0683322") @@ -203846,7 +201835,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the heart.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-20T07:00:31Z") -AnnotationAssertion( "MSH:D006338") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:387842002") AnnotationAssertion( "UMLS:C0018809") @@ -203877,7 +201865,6 @@ SubClassOf( ) "Narrowing of the carotid arteries.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-21T01:31:46Z") -AnnotationAssertion( "MSH:D016893") AnnotationAssertion( "SNOMEDCT_US:64586002") AnnotationAssertion( "UMLS:C0007282") AnnotationAssertion( "Carotid stenosis") @@ -203935,7 +201922,6 @@ AnnotationAssertion( ) AnnotationAssertion( "2010-12-21T03:44:37Z") AnnotationAssertion( "HP:0012291") -AnnotationAssertion( "MSH:D014134") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126703006") AnnotationAssertion( "UMLS:C0040582") @@ -204050,7 +202036,6 @@ SubClassOf( ) "A difference in length or diameter between the left and right leg.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-21T04:04:27Z") -AnnotationAssertion( "MSH:D007870") AnnotationAssertion( "SNOMEDCT_US:45939007") AnnotationAssertion( "UMLS:C0023221") AnnotationAssertion(Annotation( ) Annotation( ) "Left and right leg differ in length or width") @@ -204146,7 +202131,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the endocrine system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-21T04:55:15Z") -AnnotationAssertion( "MSH:D004701") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:387922007") AnnotationAssertion( "SNOMEDCT_US:387927001") @@ -204177,7 +202161,6 @@ SubClassOf( ) "A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-21T04:57:15Z") -AnnotationAssertion( "MSH:D002276") AnnotationAssertion( "SNOMEDCT_US:189607006") AnnotationAssertion( "SNOMEDCT_US:443492008") AnnotationAssertion( "UMLS:C0007095") @@ -204227,7 +202210,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-21T05:18:27Z") AnnotationAssertion( "HP:0030152") -AnnotationAssertion( "MSH:D001661") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126853008") AnnotationAssertion( "UMLS:C0005426") @@ -204243,7 +202225,6 @@ SubClassOf( ) "The presence of a neoplasm of the gallbladder.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-21T05:18:44Z") -AnnotationAssertion( "MSH:D005706") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126854002") AnnotationAssertion( "UMLS:C0016978") @@ -204259,7 +202240,6 @@ SubClassOf( ) "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T12:42:59Z") -AnnotationAssertion( "MSH:D020757") AnnotationAssertion( "SNOMEDCT_US:88032003") AnnotationAssertion( "UMLS:C0149793") AnnotationAssertion( "HP:0100576") @@ -204272,7 +202252,6 @@ SubClassOf( ) "Inflammation of the urinary bladder.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T12:49:16Z") -AnnotationAssertion( "MSH:D003556") AnnotationAssertion( "SNOMEDCT_US:38822007") AnnotationAssertion( "UMLS:C0010692") AnnotationAssertion( "Cystitis of the urinary bladder") @@ -204316,7 +202295,6 @@ SubClassOf( ) "An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T01:33:00Z") -AnnotationAssertion( "MSH:D001471") AnnotationAssertion( "SNOMEDCT_US:302914006") AnnotationAssertion( "UMLS:C0004763") AnnotationAssertion(Annotation( ) "Barret syndrome") @@ -204348,7 +202326,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-27T02:47:15Z") AnnotationAssertion( "HP:0000462") -AnnotationAssertion( "MSH:D009298") AnnotationAssertion( "SNOMEDCT_US:52756005") AnnotationAssertion( "UMLS:C0027430") AnnotationAssertion( "Nasal polyps") @@ -204365,7 +202342,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-27T02:52:19Z") AnnotationAssertion( "HP:0100793") -AnnotationAssertion( "MSH:D057112") AnnotationAssertion( "SNOMEDCT_US:74895004") AnnotationAssertion( "UMLS:C0339293") AnnotationAssertion( "UMLS:C0948060") @@ -204380,7 +202356,6 @@ SubClassOf( ) "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T02:57:48Z") -AnnotationAssertion( "MSH:D004696") AnnotationAssertion( "SNOMEDCT_US:56819008") AnnotationAssertion( "UMLS:C0014118") AnnotationAssertion( "HP:0100584") @@ -204429,7 +202404,6 @@ SubClassOf( ) "The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T03:13:30Z") -AnnotationAssertion( "MSH:D010263") AnnotationAssertion( "SNOMEDCT_US:13758004") AnnotationAssertion( "UMLS:C0030483") AnnotationAssertion( "HP:0100588") @@ -204452,7 +202426,6 @@ SubClassOf( ) "The presence of a fistula affecting the rectum.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T04:11:26Z") -AnnotationAssertion( "MSH:D012003") AnnotationAssertion( "SNOMEDCT_US:80736008") AnnotationAssertion( "UMLS:C0034884") AnnotationAssertion( "HP:0100590") @@ -204505,7 +202478,6 @@ SubClassOf( ) "An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T04:55:11Z") -AnnotationAssertion( "MSH:C537968") AnnotationAssertion( "SNOMEDCT_US:13534001") AnnotationAssertion( "UMLS:C0264162") AnnotationAssertion( "HP:0100595") @@ -204535,7 +202507,6 @@ SubClassOf( ) "Fluid accumulation in the lungs.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T05:10:09Z") -AnnotationAssertion( "MSH:D011654") AnnotationAssertion( "SNOMEDCT_US:19242006") AnnotationAssertion( "UMLS:C0034063") AnnotationAssertion(Annotation( ) Annotation( ) "Excess fluid in lungs") @@ -204568,7 +202539,6 @@ SubClassOf( ) "A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T05:19:57Z") -AnnotationAssertion( "MSH:C536650") AnnotationAssertion( "SNOMEDCT_US:312005008") AnnotationAssertion( "UMLS:C1868854") AnnotationAssertion( "Prepenile scrotum") @@ -204582,7 +202552,6 @@ SubClassOf( ) "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T05:26:33Z") -AnnotationAssertion( "MSH:D004461") AnnotationAssertion( "SNOMEDCT_US:15938005") AnnotationAssertion( "UMLS:C0013537") AnnotationAssertion( "HP:0100601") @@ -204594,7 +202563,6 @@ SubClassOf( ) "Pregnancy-induced hypertension in association with significant amounts of protein in the urine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T05:26:57Z") -AnnotationAssertion( "MSH:D011225") AnnotationAssertion( "SNOMEDCT_US:15394000") AnnotationAssertion( "SNOMEDCT_US:398254007") AnnotationAssertion( "UMLS:C0032914") @@ -204608,7 +202576,6 @@ SubClassOf( ) "Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T05:27:41Z") -AnnotationAssertion( "MSH:D011225") AnnotationAssertion( "SNOMEDCT_US:15394000") AnnotationAssertion( "SNOMEDCT_US:398254007") AnnotationAssertion( "UMLS:C0032914") @@ -204623,7 +202590,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the lip.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T05:46:46Z") -AnnotationAssertion( "MSH:D008048") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126770008") AnnotationAssertion( "UMLS:C0023761") @@ -204642,7 +202608,6 @@ SubClassOf( ) AnnotationAssertion( "2010-12-27T06:07:16Z") -AnnotationAssertion( "MSH:D007822") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126692004") AnnotationAssertion( "UMLS:C0023055") @@ -204656,7 +202621,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the respiratory system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T06:08:41Z") -AnnotationAssertion( "MSH:D012142") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126667002") AnnotationAssertion( "SNOMEDCT_US:448708002") @@ -204673,7 +202637,6 @@ SubClassOf( "PMID:15686299") "Pain during menstruation that interferes with daily activities.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T06:13:30Z") -AnnotationAssertion( "MSH:D004412") AnnotationAssertion( "SNOMEDCT_US:266599000") AnnotationAssertion( "SNOMEDCT_US:289900009") AnnotationAssertion( "SNOMEDCT_US:431416001") @@ -204688,7 +202651,6 @@ SubClassOf( "PMID:22594864") "Bleeding at irregular intervals.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-27T06:14:01Z") -AnnotationAssertion( "MSH:D008796") AnnotationAssertion( "SNOMEDCT_US:19155002") AnnotationAssertion( "SNOMEDCT_US:237130006") AnnotationAssertion( "SNOMEDCT_US:64996003") @@ -204737,7 +202699,6 @@ SubClassOf( ) "Neoplasm involving odontogenic cells, an odontogenic tumor.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-28T11:03:36Z") -AnnotationAssertion( "MSH:D009808") AnnotationAssertion( "NCIT:C3286") AnnotationAssertion( "SNOMEDCT_US:127578009") AnnotationAssertion( "SNOMEDCT_US:3833004") @@ -204767,7 +202728,6 @@ SubClassOf( ) "A general term for inflammation of the muscles without respect to the underlying cause.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-28T11:14:59Z") -AnnotationAssertion( "MSH:D009220") AnnotationAssertion( "SNOMEDCT_US:128496001") AnnotationAssertion( "SNOMEDCT_US:26889001") AnnotationAssertion( "UMLS:C0027121") @@ -204785,7 +202745,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-28T11:37:01Z") AnnotationAssertion(Annotation( ) "Ovarian cancer") -AnnotationAssertion( "MSH:D010051") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:123843001") AnnotationAssertion( "UMLS:C0919267") @@ -204804,7 +202763,6 @@ SubClassOf( ) "The presence of a teratoma of the testis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-28T11:42:18Z") -AnnotationAssertion( "MSH:C562472") AnnotationAssertion( "NCIT:C3403") AnnotationAssertion( "UMLS:C0238451") AnnotationAssertion( "HP:0100616") @@ -204818,7 +202776,6 @@ SubClassOf( ) "The presence of a seminoma, an undifferentiated germ cell tumor of the testis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-28T11:42:18Z") -AnnotationAssertion( "MSH:D018239") AnnotationAssertion( "NCIT:C9309") AnnotationAssertion( "SNOMEDCT_US:255107005") AnnotationAssertion( "SNOMEDCT_US:36741007") @@ -204858,7 +202815,6 @@ SubClassOf( ) "A type of undifferentiated germ cell tumor that may be benign or malignant.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-28T11:45:44Z") -AnnotationAssertion( "MSH:D018237") AnnotationAssertion( "SNOMEDCT_US:28307001") AnnotationAssertion( "UMLS:C0206660") AnnotationAssertion( "HP:0100620") @@ -204870,7 +202826,6 @@ SubClassOf( ) "The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-28T11:47:47Z") -AnnotationAssertion( "MSH:D004407") AnnotationAssertion( "NCIT:C2996") AnnotationAssertion( "SNOMEDCT_US:60718004") AnnotationAssertion( "UMLS:C0013377") @@ -204928,7 +202883,6 @@ SubClassOf( ) AnnotationAssertion( "2010-12-28T04:59:16Z") -AnnotationAssertion( "MSH:D058625") AnnotationAssertion( "SNOMEDCT_US:235886005") AnnotationAssertion( "UMLS:C2936476") AnnotationAssertion(Annotation( ) Annotation( ) "Chronic liver failure") @@ -204956,7 +202910,6 @@ SubClassOf( ) "The presence of a diverticulum of the esophagus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T02:22:08Z") -AnnotationAssertion( "MSH:D004936") AnnotationAssertion( "SNOMEDCT_US:204667006") AnnotationAssertion( "SNOMEDCT_US:414133009") AnnotationAssertion( "UMLS:C0014854") @@ -204982,7 +202935,6 @@ SubClassOf( ) AnnotationAssertion( "2010-12-29T02:23:48Z") -AnnotationAssertion( "MSH:D009303") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126680004") AnnotationAssertion( "UMLS:C0027439") @@ -205000,7 +202952,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the adrenal gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T02:27:47Z") -AnnotationAssertion( "MSH:D000310") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:127021009") AnnotationAssertion( "UMLS:C0001624") @@ -205016,7 +202967,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-29T05:05:08Z") AnnotationAssertion( "HP:0010960") -AnnotationAssertion( "MSH:D001998") AnnotationAssertion( "SNOMEDCT_US:18620009") AnnotationAssertion( "UMLS:C0006288") AnnotationAssertion( "UMLS:C4020703") @@ -205033,7 +202983,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-29T05:09:23Z") AnnotationAssertion(Annotation(rdfs:label "Oesophagitis") "MEDDRA:10030216") -AnnotationAssertion( "MSH:D004941") AnnotationAssertion( "SNOMEDCT_US:16761005") AnnotationAssertion( "UMLS:C0014868") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of the esophagus") @@ -205050,7 +202999,6 @@ SubClassOf( "NCIT:C3809") Annotation( "PMID:28448665") "A tumor that originates from a neuroendocrine cell.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T05:12:37Z") -AnnotationAssertion( "MSH:D018358") AnnotationAssertion( "SNOMEDCT_US:128928004") AnnotationAssertion( "SNOMEDCT_US:255046005") AnnotationAssertion( "UMLS:C0206754") @@ -205096,7 +203044,6 @@ AnnotationAssertion( ) AnnotationAssertion( "2010-12-29T05:31:55Z") AnnotationAssertion( "HP:0030073") -AnnotationAssertion( "MSH:D010610") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126685009") AnnotationAssertion( "UMLS:C0031347") @@ -205138,7 +203085,6 @@ SubClassOf( ) "The presence of a neoplasm of the adrenal cortex.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T05:53:58Z") -AnnotationAssertion( "MSH:D000306") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:127022002") AnnotationAssertion( "SNOMEDCT_US:18365006") @@ -205210,7 +203156,6 @@ SubClassOf( ) "Inflammation of the thyroid gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T06:08:32Z") -AnnotationAssertion( "MSH:D013966") AnnotationAssertion( "SNOMEDCT_US:82119001") AnnotationAssertion( "UMLS:C0040147") AnnotationAssertion(Annotation( ) Annotation( ) "Thyroid gland inflammation") @@ -205225,7 +203170,6 @@ SubClassOf( ) "An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T06:08:53Z") -AnnotationAssertion( "MSH:D006111") AnnotationAssertion( "SNOMEDCT_US:353295004") AnnotationAssertion( "SNOMEDCT_US:55807009") AnnotationAssertion( "UMLS:C0018213") @@ -205239,7 +203183,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the tongue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T06:14:32Z") -AnnotationAssertion( "MSH:D014062") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126778001") AnnotationAssertion( "UMLS:C0040411") @@ -205255,7 +203198,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-29T06:15:14Z") AnnotationAssertion( "HP:0012290") AnnotationAssertion(Annotation( ) "Lesion of oral cavity") -AnnotationAssertion( "MSH:D009062") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:1071000119107") AnnotationAssertion( "SNOMEDCT_US:126797001") @@ -205279,7 +203221,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the vagina.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T06:34:41Z") -AnnotationAssertion( "MSH:D014625") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126921000") AnnotationAssertion( "UMLS:C0042258") @@ -205297,7 +203238,6 @@ SubClassOf( ) "A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-29T06:37:55Z") -AnnotationAssertion( "MSH:D003922") AnnotationAssertion( "SNOMEDCT_US:46635009") AnnotationAssertion( "UMLS:C0011854") AnnotationAssertion( "Diabetes mellitus Type I") @@ -205315,7 +203255,6 @@ SubClassOf( ) "Inflammation of the optic nerve.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-30T09:56:38Z") -AnnotationAssertion( "MSH:D009902") AnnotationAssertion( "SNOMEDCT_US:66760008") AnnotationAssertion( "UMLS:C0029134") AnnotationAssertion( "HP:0100653") @@ -205330,7 +203269,6 @@ SubClassOf( ) "Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-30T09:57:09Z") -AnnotationAssertion( "MSH:D009902") AnnotationAssertion( "SNOMEDCT_US:230507009") AnnotationAssertion( "UMLS:C0085582") AnnotationAssertion( "Retrobulbar neuritis") @@ -205370,8 +203308,6 @@ AnnotationAssertion( ) AnnotationAssertion( "2010-12-30T10:11:51Z") AnnotationAssertion( "HP:0003553") -AnnotationAssertion( "MSH:D002481") -AnnotationAssertion( "MSH:D017192") AnnotationAssertion( "SNOMEDCT_US:128045006") AnnotationAssertion( "SNOMEDCT_US:128936008") AnnotationAssertion( "SNOMEDCT_US:385627004") @@ -205405,7 +203341,6 @@ SubClassOf( ) "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-30T11:46:50Z") -AnnotationAssertion( "MSH:D020820") AnnotationAssertion( "SNOMEDCT_US:9748009") AnnotationAssertion( "UMLS:C0013384") AnnotationAssertion(Annotation( ) Annotation( ) "Disorder of involuntary muscle movements") @@ -205420,7 +203355,6 @@ SubClassOf( ) "A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-30T11:53:47Z") -AnnotationAssertion( "MSH:D014277") AnnotationAssertion( "SNOMEDCT_US:31681005") AnnotationAssertion( "UMLS:C0040997") AnnotationAssertion( "Tic douloureux") @@ -205460,7 +203394,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-12-30T01:09:59Z") AnnotationAssertion( "HP:0100666") -AnnotationAssertion( "MSH:D000799") AnnotationAssertion( "SNOMEDCT_US:400075008") AnnotationAssertion( "SNOMEDCT_US:41291007") AnnotationAssertion( "UMLS:C0002994") @@ -205552,7 +203485,6 @@ SubClassOf( "PMID:32644551") "A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-30T01:36:39Z") -AnnotationAssertion( "MSH:D006848") AnnotationAssertion( "SNOMEDCT_US:26614003") AnnotationAssertion( "SNOMEDCT_US:386152007") AnnotationAssertion( "SNOMEDCT_US:55434001") @@ -205611,7 +203543,6 @@ AnnotationAssertion(dcterms:creator AnnotationAssertion( "2010-12-30T01:43:36Z") AnnotationAssertion( "HP:0200074") AnnotationAssertion(Annotation(rdfs:label "Skin wrinkling") "MEDDRA:10040954") -AnnotationAssertion( "MSH:D015595") AnnotationAssertion( "SNOMEDCT_US:247434009") AnnotationAssertion( "UMLS:C0037301") AnnotationAssertion(Annotation( ) "Premature skin wrinkling") @@ -205665,7 +203596,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of a salivary gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-12-30T02:20:38Z") -AnnotationAssertion( "MSH:D012468") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:235132004") AnnotationAssertion( "SNOMEDCT_US:255072001") @@ -205791,7 +203721,6 @@ SubClassOf( ) "Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-28T04:43:32Z") -AnnotationAssertion( "MSH:D065134") AnnotationAssertion( "SNOMEDCT_US:234102003") AnnotationAssertion( "UMLS:C0398370") AnnotationAssertion( "HP:0100695") @@ -205804,8 +203733,6 @@ SubClassOf( ) "A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-29T11:40:44Z") -AnnotationAssertion( "MSH:D009442") -AnnotationAssertion( "MSH:D018319") AnnotationAssertion( "NCIT:C3798") AnnotationAssertion( "SNOMEDCT_US:19897006") AnnotationAssertion( "SNOMEDCT_US:404037002") @@ -205837,7 +203764,6 @@ SubClassOf( "A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-29T06:39:56Z") -AnnotationAssertion( "MSH:D002921") AnnotationAssertion( "SNOMEDCT_US:48677004") AnnotationAssertion( "UMLS:C0008767") AnnotationAssertion(Annotation( ) "Scarring") @@ -205877,7 +203803,6 @@ SubClassOf( ) "An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-03-31T12:46:59Z") -AnnotationAssertion( "MSH:D016080") AnnotationAssertion( "SNOMEDCT_US:33595009") AnnotationAssertion( "UMLS:C0078981") AnnotationAssertion(Annotation( ) Annotation( ) "Fluid-filled sac located in membrane surrounding brain or spinal cord") @@ -205910,7 +203835,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-03-31T01:03:21Z") AnnotationAssertion( "HP:0000595") -AnnotationAssertion( "MSH:D019575") AnnotationAssertion( "SNOMEDCT_US:413924001") AnnotationAssertion( "SNOMEDCT_US:68574006") AnnotationAssertion( "UMLS:C0155320") @@ -206002,7 +203926,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-04-07T05:36:16Z") -AnnotationAssertion( "MSH:D007175") AnnotationAssertion( "UMLS:C0021125") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impulsive") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) Annotation( ) "Impulsivity") @@ -206048,7 +203971,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-05-16T06:47:54Z") -AnnotationAssertion( "MSH:D016728") AnnotationAssertion( "SNOMEDCT_US:248062006") AnnotationAssertion( "UMLS:C0085271") AnnotationAssertion( "Autoagression") @@ -206079,7 +204001,6 @@ SubClassOf( ) AnnotationAssertion( "2011-06-06T01:49:29Z") -AnnotationAssertion( "MSH:D014597") AnnotationAssertion( "SNOMEDCT_US:34430009") AnnotationAssertion( "UMLS:C0042143") AnnotationAssertion( "HP:0100718") @@ -206128,7 +204049,6 @@ SubClassOf( ) AnnotationAssertion( "2011-06-06T02:49:58Z") -AnnotationAssertion( "MSH:D046152") AnnotationAssertion( "SNOMEDCT_US:128755003") AnnotationAssertion( "SNOMEDCT_US:420120006") AnnotationAssertion( "UMLS:C0238198") @@ -206149,7 +204069,6 @@ SubClassOf( ) "An abnormality of coagulation associated with an increased risk of thrombosis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T04:04:38Z") -AnnotationAssertion( "MSH:D019851") AnnotationAssertion( "SNOMEDCT_US:234467004") AnnotationAssertion( "SNOMEDCT_US:76612001") AnnotationAssertion( "UMLS:C0398623") @@ -206176,7 +204095,6 @@ SubClassOf( ) "A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T04:33:09Z") -AnnotationAssertion( "MSH:D012514") AnnotationAssertion( "SNOMEDCT_US:109385007") AnnotationAssertion( "SNOMEDCT_US:49937004") AnnotationAssertion( "UMLS:C0036220") @@ -206189,7 +204107,6 @@ SubClassOf( ) "An excessive number of histiocytes (tissue macrophages).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T04:43:05Z") -AnnotationAssertion( "MSH:D015614") AnnotationAssertion( "SNOMEDCT_US:60657004") AnnotationAssertion( "SNOMEDCT_US:65396000") AnnotationAssertion( "UMLS:C0019618") @@ -206225,7 +204142,6 @@ SubClassOf( ) Annotation( "PMID:24605255") "A rare congenital cystic lesion of the lungs in the mediastinum.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T05:01:27Z") -AnnotationAssertion( "MSH:D001994") AnnotationAssertion( "SNOMEDCT_US:268194008") AnnotationAssertion( "SNOMEDCT_US:9550003") AnnotationAssertion( "UMLS:C0006281") @@ -206262,7 +204178,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the parathyroid gland.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T05:09:38Z") -AnnotationAssertion( "MSH:D010282") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:127020005") AnnotationAssertion( "UMLS:C0030521") @@ -206350,7 +204265,6 @@ SubClassOf( ) Annotation( "PMID:23346610") "A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T05:55:43Z") -AnnotationAssertion( "MSH:D002032") AnnotationAssertion( "SNOMEDCT_US:78004001") AnnotationAssertion( "UMLS:C0006370") AnnotationAssertion(Annotation( ) Annotation( ) "Binge and purge") @@ -206363,8 +204277,6 @@ SubClassOf( ) "A benign or malignant neoplasm (tumor) originating in the vascular system.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T06:08:26Z") -AnnotationAssertion( "MSH:D009383") -AnnotationAssertion( "MSH:D019043") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:115235003") AnnotationAssertion( "SNOMEDCT_US:126736007") @@ -206382,7 +204294,6 @@ SubClassOf( ) AnnotationAssertion( "2011-06-06T06:20:18Z") -AnnotationAssertion( "MSH:D012004") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126847008") AnnotationAssertion( "UMLS:C0034885") @@ -206419,7 +204330,6 @@ SubClassOf( ) "A type of Macrodactyly affecting one or several fingers.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T06:29:55Z") -AnnotationAssertion( "MSH:C537720") AnnotationAssertion( "SNOMEDCT_US:297195000") AnnotationAssertion( "UMLS:C0574044") AnnotationAssertion( "Macrodactyly of hands") @@ -206433,7 +204343,6 @@ SubClassOf( ) "A type of Macrodactyly affecting one or several toes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T06:29:55Z") -AnnotationAssertion( "MSH:C537719") AnnotationAssertion( "UMLS:C2931596") AnnotationAssertion( "Foot macrodactyly") AnnotationAssertion( "HP:0100747") @@ -206458,7 +204367,6 @@ SubClassOf( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T06:36:48Z") -AnnotationAssertion( "MSH:D002637") AnnotationAssertion( "SNOMEDCT_US:29857009") AnnotationAssertion( "UMLS:C0008031") AnnotationAssertion(Annotation( ) "Chest pain") @@ -206473,7 +204381,6 @@ SubClassOf( ) "Collapse of part of a lung associated with absence of inflation (air) of that part.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T06:38:53Z") -AnnotationAssertion( "MSH:D001261") AnnotationAssertion( "SNOMEDCT_US:46621007") AnnotationAssertion( "UMLS:C0004144") AnnotationAssertion(Annotation( ) Annotation( ) "Partial or complete collapse of part or entire lung") @@ -206487,7 +204394,6 @@ SubClassOf( "A tumor (abnormal growth of tissue) of the esophagus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-06T06:44:54Z") -AnnotationAssertion( "MSH:D004938") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126817006") AnnotationAssertion( "UMLS:C0014859") @@ -206525,7 +204431,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T09:53:08Z") -AnnotationAssertion( "MSH:D012559") AnnotationAssertion( "SNOMEDCT_US:191526005") AnnotationAssertion( "SNOMEDCT_US:58214004") AnnotationAssertion( "UMLS:C0036341") @@ -206544,7 +204449,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T09:54:05Z") -AnnotationAssertion( "MSH:D001714") AnnotationAssertion( "SNOMEDCT_US:231494001") AnnotationAssertion( "UMLS:C0338831") AnnotationAssertion( "Hypomania") @@ -206572,7 +204476,6 @@ SubClassOf( ) "A rare pediatric carcinoma of the pancreas.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T10:05:52Z") -AnnotationAssertion( "MSH:C537162") AnnotationAssertion( "SNOMEDCT_US:53618008") AnnotationAssertion( "UMLS:C0334489") AnnotationAssertion( "HP:0100757") @@ -206584,7 +204487,6 @@ SubClassOf( "ISBN:9780781770873") "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T10:19:11Z") -AnnotationAssertion( "MSH:D005734") AnnotationAssertion( "SNOMEDCT_US:36024000") AnnotationAssertion( "SNOMEDCT_US:372070002") AnnotationAssertion( "UMLS:C0017086") @@ -206600,7 +204502,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-07T10:25:26Z") AnnotationAssertion(Annotation(rdfs:label "Finger clubbing") "MEDDRA:10016680") -AnnotationAssertion( "MSH:D010005") AnnotationAssertion( "SNOMEDCT_US:30760008") AnnotationAssertion( "UMLS:C0009080") AnnotationAssertion(Annotation( ) "Clubbed fingers") @@ -206618,7 +204519,6 @@ SubClassOf( ) "Terminal broadening of the toes (distal phalanges of the toes).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T10:25:26Z") -AnnotationAssertion( "MSH:D003025") AnnotationAssertion( "SNOMEDCT_US:249808002") AnnotationAssertion( "SNOMEDCT_US:397932003") AnnotationAssertion( "SNOMEDCT_US:53148007") @@ -206644,7 +204544,6 @@ SubClassOf( ) "Bleeding into the biliary tree.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T10:36:09Z") -AnnotationAssertion( "MSH:D006431") AnnotationAssertion( "SNOMEDCT_US:66556007") AnnotationAssertion( "UMLS:C0018994") AnnotationAssertion( "Haemobilia") @@ -206658,7 +204557,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-07T10:40:36Z") AnnotationAssertion( "HP:0003012") -AnnotationAssertion( "MSH:D008206") AnnotationAssertion( "SNOMEDCT_US:111590001") AnnotationAssertion( "SNOMEDCT_US:234087005") AnnotationAssertion( "SNOMEDCT_US:3305006") @@ -206677,7 +204575,6 @@ SubClassOf( ) Annotation( "PMID:12376602") "Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T10:41:13Z") -AnnotationAssertion( "MSH:D008202") AnnotationAssertion( "NCIT:C8965") AnnotationAssertion( "SNOMEDCT_US:253057002") AnnotationAssertion( "SNOMEDCT_US:254836000") @@ -206733,7 +204630,6 @@ SubClassOf( ) "A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T11:05:40Z") -AnnotationAssertion( "MSH:D002822") AnnotationAssertion( "SNOMEDCT_US:188188009") AnnotationAssertion( "SNOMEDCT_US:44769000") AnnotationAssertion( "UMLS:C0008497") @@ -206746,7 +204642,6 @@ SubClassOf( ) AnnotationAssertion( "2011-06-07T11:45:59Z") -AnnotationAssertion( "MSH:D013585") AnnotationAssertion( "SNOMEDCT_US:416209007") AnnotationAssertion( "UMLS:C0039103") AnnotationAssertion( "HP:0100769") @@ -206797,7 +204692,6 @@ SubClassOf( ) "Excessive growth or abnormal thickening of bone tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T05:17:19Z") -AnnotationAssertion( "MSH:D015576") AnnotationAssertion( "SNOMEDCT_US:13814009") AnnotationAssertion( "SNOMEDCT_US:203514008") AnnotationAssertion( "UMLS:C0020492") @@ -206838,7 +204732,6 @@ SubClassOf( ) "An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T05:34:49Z") -AnnotationAssertion( "MSH:D005096") AnnotationAssertion( "SNOMEDCT_US:416189003") AnnotationAssertion( "SNOMEDCT_US:80400009") AnnotationAssertion( "UMLS:C1442903") @@ -206852,7 +204745,6 @@ SubClassOf( ) "Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T05:42:38Z") -AnnotationAssertion( "MSH:D003449") AnnotationAssertion( "SNOMEDCT_US:30911005") AnnotationAssertion( "UMLS:C0010403") AnnotationAssertion( "Cryoprecipitable immune complexes") @@ -206933,7 +204825,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T06:14:22Z") -AnnotationAssertion( "MSH:D007319") AnnotationAssertion( "SNOMEDCT_US:193462001") AnnotationAssertion( "UMLS:C0917801") AnnotationAssertion(Annotation( ) Annotation( ) "Difficulty staying or falling asleep") @@ -206953,7 +204844,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-07T06:15:07Z") -AnnotationAssertion( "MSH:D006970") AnnotationAssertion( "SNOMEDCT_US:77692006") AnnotationAssertion( "UMLS:C0917799") AnnotationAssertion( "Excessive sleep") @@ -206968,7 +204858,6 @@ SubClassOf( ) AnnotationAssertion( "2011-06-07T06:29:49Z") -AnnotationAssertion( "MSH:D011471") AnnotationAssertion( "SNOMEDCT_US:126906006") AnnotationAssertion( "UMLS:C0033578") AnnotationAssertion( "HP:0100787") @@ -207016,7 +204905,6 @@ SubClassOf( ) AnnotationAssertion( "2011-06-08T02:33:37Z") -AnnotationAssertion( "MSH:D006547") AnnotationAssertion( "SNOMEDCT_US:414403008") AnnotationAssertion( "SNOMEDCT_US:52515009") AnnotationAssertion( "UMLS:C0019270") @@ -207030,7 +204918,6 @@ SubClassOf( ) "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-08T03:22:24Z") -AnnotationAssertion( "MSH:D000051") AnnotationAssertion( "SNOMEDCT_US:43327007") AnnotationAssertion( "SNOMEDCT_US:441837004") AnnotationAssertion( "UMLS:C0000887") @@ -207059,7 +204946,6 @@ SubClassOf( ) "Testicular inflammation.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-08T04:18:06Z") -AnnotationAssertion( "MSH:D009920") AnnotationAssertion( "SNOMEDCT_US:274718005") AnnotationAssertion( "UMLS:C0029191") AnnotationAssertion(Annotation( ) Annotation( ) "Inflammation of testicles") @@ -207191,7 +205077,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "Systemic inflammatory response to infection.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T01:05:51Z") -AnnotationAssertion( "MSH:D018805") AnnotationAssertion( "UMLS:C0036690") AnnotationAssertion(Annotation( ) Annotation( ) "Infection in blood stream") AnnotationAssertion( "HP:0100806") @@ -207216,7 +205101,6 @@ SubClassOf( ) Annotation( "PMID:22257431") "An outpouching of the gastric wall.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T01:43:31Z") -AnnotationAssertion( "MSH:D013273") AnnotationAssertion( "SNOMEDCT_US:75198005") AnnotationAssertion( "UMLS:C0038355") AnnotationAssertion( "Stomach diverticulum") @@ -207277,7 +205161,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T02:00:42Z") AnnotationAssertion(Annotation(rdfs:label "Breath odor") "MEDDRA:10006326") -AnnotationAssertion( "MSH:D006209") AnnotationAssertion( "SNOMEDCT_US:79879001") AnnotationAssertion( "UMLS:C0018520") AnnotationAssertion(Annotation( ) "Bad breath") @@ -207293,7 +205176,6 @@ SubClassOf( ) "Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T02:03:12Z") -AnnotationAssertion( "MSH:D013086") AnnotationAssertion( "SNOMEDCT_US:49198006") AnnotationAssertion( "SNOMEDCT_US:81996005") AnnotationAssertion( "UMLS:C0037856") @@ -207333,7 +205215,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T04:48:35Z") AnnotationAssertion( "HP:0008741") -AnnotationAssertion( "MSH:D006978") AnnotationAssertion( "SNOMEDCT_US:123799005") AnnotationAssertion( "UMLS:C0020545") AnnotationAssertion( "Hypertension due to renal artery hyperplasia") @@ -207362,7 +205243,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T04:57:15Z") AnnotationAssertion(Annotation(rdfs:label "Intestinal fistula") "MEDDRA:10022647") -AnnotationAssertion( "MSH:D007412") AnnotationAssertion( "SNOMEDCT_US:38851006") AnnotationAssertion( "UMLS:C0021833") AnnotationAssertion( "HP:0100819") @@ -207403,7 +205283,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T05:07:41Z") AnnotationAssertion( "ICD-9:618.04") -AnnotationAssertion( "MSH:D020047") AnnotationAssertion( "SNOMEDCT_US:447072005") AnnotationAssertion( "SNOMEDCT_US:62730001") AnnotationAssertion( "UMLS:C0149771") @@ -207426,7 +205305,6 @@ SubClassOf( ) "Inflammation of the lip.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T05:18:41Z") -AnnotationAssertion( "MSH:D002613") AnnotationAssertion( "SNOMEDCT_US:7847004") AnnotationAssertion( "UMLS:C0007971") AnnotationAssertion( "UMLS:C4280288") @@ -207458,7 +205336,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T05:32:57Z") AnnotationAssertion( "HP:0012141") -AnnotationAssertion( "MSH:D008218") AnnotationAssertion( "SNOMEDCT_US:67023009") AnnotationAssertion( "UMLS:C0024282") AnnotationAssertion(Annotation( ) Annotation( ) "High lymphocyte count") @@ -207487,7 +205364,6 @@ SubClassOf( ) "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T05:39:15Z") -AnnotationAssertion( "MSH:D005687") AnnotationAssertion( "UMLS:C3665358") AnnotationAssertion( "Galactorrhoea") AnnotationAssertion(Annotation( ) Annotation( ) "Spontaneous milk flow from breast") @@ -207563,7 +205439,6 @@ SubClassOf( ) "The presence of a neoplasm of the large intestine.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T06:03:45Z") -AnnotationAssertion( "MSH:D015179") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126837005") AnnotationAssertion( "UMLS:C0009404") @@ -207602,7 +205477,6 @@ SubClassOf( ) "Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T06:20:04Z") -AnnotationAssertion( "MSH:C537412") AnnotationAssertion( "SNOMEDCT_US:400059005") AnnotationAssertion( "SNOMEDCT_US:400126005") AnnotationAssertion( "UMLS:C0263428") @@ -207678,7 +205552,6 @@ SubClassOf( ) "Underdevelopment of the optic nerve and absence of the septum pellucidum.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T06:44:12Z") -AnnotationAssertion( "MSH:D025962") AnnotationAssertion( "SNOMEDCT_US:7611002") AnnotationAssertion( "UMLS:C0338503") AnnotationAssertion( "De Morsier syndrome") @@ -207699,7 +205572,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T06:50:10Z") -AnnotationAssertion( "MSH:D010185") AnnotationAssertion( "SNOMEDCT_US:25803005") AnnotationAssertion( "UMLS:C0030290") AnnotationAssertion( "HP:0100844") @@ -207711,7 +205583,6 @@ SubClassOf( ) "An acute hypersensitivity reaction due to exposure to a previously encountered antigen.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-09T06:54:40Z") -AnnotationAssertion( "MSH:D000707") AnnotationAssertion( "SNOMEDCT_US:39579001") AnnotationAssertion( "UMLS:C0002792") AnnotationAssertion(Annotation( ) "Anaphylaxis") @@ -207726,7 +205597,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2011-06-09T07:07:06Z") AnnotationAssertion(Annotation(rdfs:label "Palmoplantar pustulosis") "MEDDRA:10050185") -AnnotationAssertion( "MSH:D011565") AnnotationAssertion( "SNOMEDCT_US:27520001") AnnotationAssertion( "UMLS:C0030246") AnnotationAssertion( "Palmoplantar pustules") @@ -207772,7 +205642,6 @@ SubClassOf( ) "A tumor (abnormal growth of tissue) of the penis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-06-17T01:38:16Z") -AnnotationAssertion( "MSH:D010412") AnnotationAssertion( "NCIT:C3262") AnnotationAssertion( "SNOMEDCT_US:126896003") AnnotationAssertion( "UMLS:C0030849") @@ -208022,7 +205891,6 @@ AnnotationAssertion( AnnotationAssertion( "HP:0005205") AnnotationAssertion( "HP:0010449") AnnotationAssertion(Annotation(rdfs:label "Duodenal stenosis") "MEDDRA:10050094") -AnnotationAssertion( "MSH:C535720") AnnotationAssertion( "SNOMEDCT_US:73120006") AnnotationAssertion( "UMLS:C0238093") AnnotationAssertion( "UMLS:C1860791") @@ -208195,7 +206063,6 @@ SubClassOf( ) "Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-12-01T02:44:52Z") -AnnotationAssertion( "MSH:D018201") AnnotationAssertion( "UMLS:C1332965") AnnotationAssertion( "HP:0100881") AnnotationAssertion(rdfs:comment "Congenital mesoblastic nephroma is more common in males.") @@ -208221,7 +206088,6 @@ SubClassOf( ) Annotation( "PMID:20594143") Annotation( "PMID:24251055") "Hamartoma-like growth in the placenta consisting of blood vessels.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-12-01T02:50:56Z") -AnnotationAssertion( "MSH:D006391") AnnotationAssertion( "SNOMEDCT_US:2099007") AnnotationAssertion( "SNOMEDCT_US:237268002") AnnotationAssertion( "SNOMEDCT_US:699948001") @@ -208312,7 +206178,6 @@ SubClassOf( ) AnnotationAssertion( "2011-12-01T05:02:35Z") -AnnotationAssertion( "MSH:D015529") AnnotationAssertion( "SNOMEDCT_US:397868007") AnnotationAssertion( "SNOMEDCT_US:398197009") AnnotationAssertion( "SNOMEDCT_US:440471007") @@ -208389,7 +206254,6 @@ SubClassOf( ) "Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2011-12-01T05:39:30Z") -AnnotationAssertion( "MSH:C562737") AnnotationAssertion( "SNOMEDCT_US:22858003") AnnotationAssertion( "SNOMEDCT_US:400091006") AnnotationAssertion( "UMLS:C0334083") @@ -208969,7 +206833,6 @@ SubClassOf( ) AnnotationAssertion( "2011-12-02T04:33:23Z") -AnnotationAssertion( "MSH:C566945") AnnotationAssertion( "SNOMEDCT_US:237999008") AnnotationAssertion( "UMLS:C1969443") AnnotationAssertion( "Long chain 3 hydroxyacyl coA dehydrogenase deficiency") @@ -209116,7 +206979,6 @@ AnnotationAssertion(dcterms:contributor ) AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-01-18T06:06:28Z") -AnnotationAssertion( "MSH:D012792") AnnotationAssertion( "UMLS:C0037020") AnnotationAssertion(Annotation( ) "Shyness") AnnotationAssertion( "HP:0100962") @@ -209128,7 +206990,6 @@ SubClassOf( "PMID:33085272") "Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2012-01-18T06:11:19Z") -AnnotationAssertion( "MSH:D006941") AnnotationAssertion( "SNOMEDCT_US:14151009") AnnotationAssertion( "UMLS:C0020453") AnnotationAssertion( "Hyperaesthesia") @@ -209218,7 +207079,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-09T11:38:54Z") AnnotationAssertion(Annotation( ) Annotation( ) "Growths in inner lining of intestine") -AnnotationAssertion( "MSH:D044483") AnnotationAssertion( "UMLS:C0744333") AnnotationAssertion( "UMLS:C1257915") AnnotationAssertion( "Multiple intestinal polyps") @@ -209302,7 +207162,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-16T12:55:24Z") AnnotationAssertion( "HP:0200019") -AnnotationAssertion( "MSH:D003117") AnnotationAssertion( "SNOMEDCT_US:51445007") AnnotationAssertion( "UMLS:C0155015") AnnotationAssertion( "UMLS:C3887980") @@ -209350,7 +207209,6 @@ SubClassOf( ) "Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-16T04:01:24Z") -AnnotationAssertion( "MSH:D020288") AnnotationAssertion( "NCIT:C3698") AnnotationAssertion( "SNOMEDCT_US:18021007") AnnotationAssertion( "UMLS:C0205770") @@ -209365,7 +207223,6 @@ SubClassOf( ) "A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-16T05:00:44Z") -AnnotationAssertion( "MSH:D011317") AnnotationAssertion( "SNOMEDCT_US:6273006") AnnotationAssertion( "UMLS:C0033117") AnnotationAssertion( "hulseyism") @@ -209403,7 +207260,6 @@ SubClassOf( "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-16T07:39:04Z") -AnnotationAssertion( "MSH:D058447") AnnotationAssertion( "SNOMEDCT_US:41652007") AnnotationAssertion( "UMLS:C0151827") AnnotationAssertion(Annotation( ) Annotation( ) "Eye pain") @@ -209541,7 +207397,6 @@ SubClassOf( ) "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-18T02:08:02Z") -AnnotationAssertion( "MSH:D004814") AnnotationAssertion( "SNOMEDCT_US:399999000") AnnotationAssertion( "SNOMEDCT_US:417992006") AnnotationAssertion( "SNOMEDCT_US:418323001") @@ -209581,7 +207436,6 @@ AnnotationAssertion(Annotation( ) AnnotationAssertion( "2010-06-18T02:17:00Z") AnnotationAssertion(Annotation(rdfs:label "Skin ulcer") "MEDDRA:10040943") -AnnotationAssertion( "MSH:D012883") AnnotationAssertion( "SNOMEDCT_US:46742003") AnnotationAssertion( "UMLS:C0037299") AnnotationAssertion(Annotation( ) Annotation( ) Annotation( ) "Open skin sore") @@ -209595,7 +207449,6 @@ SubClassOf( ) "Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-18T11:35:25Z") -AnnotationAssertion( "MSH:D014860") AnnotationAssertion( "SNOMEDCT_US:30285000") AnnotationAssertion( "SNOMEDCT_US:57019003") AnnotationAssertion( "UMLS:C3665596") @@ -209610,7 +207463,6 @@ SubClassOf( ) "A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2010-06-18T11:57:47Z") -AnnotationAssertion( "MSH:D017499") AnnotationAssertion( "SNOMEDCT_US:80432009") AnnotationAssertion( "UMLS:C0949506") AnnotationAssertion( "HP:0200044") @@ -209742,7 +207594,6 @@ SubClassOf( (Angiosarcoma) AnnotationAssertion(dcterms:creator ) -AnnotationAssertion( "MSH:D006394") AnnotationAssertion( "SNOMEDCT_US:33176006") AnnotationAssertion( "SNOMEDCT_US:39000009") AnnotationAssertion( "SNOMEDCT_US:403977003") @@ -209777,7 +207628,6 @@ SubClassOf( ) "Asymmetry between the two irides or asymmetry between different parts of one iris.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-05-31T01:27:41Z") -AnnotationAssertion( "MSH:C538115") AnnotationAssertion( "SNOMEDCT_US:247033008") AnnotationAssertion( "UMLS:C0423318") AnnotationAssertion( "HP:0200064") @@ -209901,7 +207751,6 @@ SubClassOf( ) AnnotationAssertion( "2013-06-04T02:39:15Z") -AnnotationAssertion( "MSH:D014202") AnnotationAssertion( "UMLS:C0235081") AnnotationAssertion(Annotation( ) Annotation( ) "Involuntary shaking of limb") AnnotationAssertion(Annotation( ) "Limb tremor") @@ -210149,7 +207998,6 @@ SubClassOf( "PMID:7418593") "Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-06-11T11:17:25Z") -AnnotationAssertion( "MSH:D006521") AnnotationAssertion( "SNOMEDCT_US:197284004") AnnotationAssertion( "UMLS:C0520463") AnnotationAssertion(Annotation( ) "Hepatitis, chronic active") @@ -210172,7 +208020,6 @@ SubClassOf( "https://patient.info/doctor/chronic-hepatitis") "Hepatitis that lasts for more than six months.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-06-11T11:20:53Z") -AnnotationAssertion( "MSH:D006521") AnnotationAssertion( "SNOMEDCT_US:76783007") AnnotationAssertion( "UMLS:C0019189") AnnotationAssertion(Annotation( ) Annotation( ) "Chronic liver inflammation") @@ -210266,7 +208113,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-06-12T11:05:35Z") -AnnotationAssertion( "MSH:D003680") AnnotationAssertion( "SNOMEDCT_US:71457002") AnnotationAssertion( "UMLS:C0267071") AnnotationAssertion(Annotation( ) "Oral pharyngeal dysphagia") @@ -210324,7 +208170,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "PMID:27031798") "An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.).") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-06-13T12:55:22Z") -AnnotationAssertion( "MSH:C536230") AnnotationAssertion( "SNOMEDCT_US:234021009") AnnotationAssertion( "SNOMEDCT_US:42182000") AnnotationAssertion( "SNOMEDCT_US:45894003") @@ -210389,7 +208234,6 @@ SubClassOf( ) Annotation( "PMID:21668033") "Multifocal dense infiltrates of mast cells in cutaneous tissue.") AnnotationAssertion(dcterms:creator ) AnnotationAssertion( "2013-06-14T09:22:02Z") -AnnotationAssertion( "MSH:D034701") AnnotationAssertion( "SNOMEDCT_US:397012002") AnnotationAssertion( "SNOMEDCT_US:703827008") AnnotationAssertion( "UMLS:C1136033") @@ -210558,7 +208402,6 @@ SubClassOf( (Polymenorrhea) AnnotationAssertion(Annotation( "PMID:22594864") "Frequent menses; menstrual cycles lasting less than 21 days.") -AnnotationAssertion( "MSH:D008599") AnnotationAssertion( "SNOMEDCT_US:52754008") AnnotationAssertion( "UMLS:C0032519") AnnotationAssertion(rdfs:label "Polymenorrhea")