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SNOMED CT
Id | http://purl.bioontology.org/ontology/SNOMEDCT/816067005
http://purl.bioontology.org/ontology/SNOMEDCT/816067005
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Preferred Name | Woodhouse Sakati syndrome |
Definitions |
Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner.
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Synonyms |
Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder)
Diabetes, hypogonadism, deafness, intellectual disability syndrome
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner. |
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altLabel |
Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder)
Diabetes, hypogonadism, deafness, intellectual disability syndrome
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prefLabel | Woodhouse Sakati syndrome
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Associated with | |
Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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notation | 816067005
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Effective time | 20200131
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Active | 1
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Has finding site | |
interprets | |
Has pathological process | |
subClassOf |
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Semantic type UMLS property | |
Has interpretation | |
type | |
Subset member | 6011000124106~MAPTARGET~E11.9
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~E28.39
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPRULE~IFA 248153007 | Male (finding) |
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
6011000124106~MAPADVICE~IF MALE CHOOSE E29.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP IS CONTEXT DEPENDENT FOR GENDER
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~E29.1
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~IF FEMALE CHOOSE E28.39 | MAP IS CONTEXT DEPENDENT FOR GENDER
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPADVICE~ALWAYS E11.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~4
6011000124106~MAPCATEGORYID~447639009
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
900000000000497000~MAPTARGET~XVBhv
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPPRIORITY~3
6011000124106~MAPRULE~IFA 248152002 | Female (finding) |
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
6011000124106~MAPTARGET~H90.5
6011000124106~MAPADVICE~ALWAYS H90.5
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DEFINITION STATUS ID | 900000000000074008
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tui | T047
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CTV3ID | XVBhv
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cui | C0342286
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Has associated morphology |
Delete | Subject | Author | Type | Created |
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No notes to display |
- Problem retrieving properties:
Notes
Subject | Author | Type | Class | Created |
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ICD-10-CM 2018 | Certified+Professional+Coder+ | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/40068008 | 2018-06-08 |
Surgical specialty should be surgury? | jimmccusker | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/394732004 | 2012-09-26 |
SNOMEDCT | kotharu | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/123037004 | 2012-04-17 |
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