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syndroom van diabetes, hypogonadisme, doofheid en verstandelijke beperking (aandoening)
syndroom van diabetes, hypogonadisme, doofheid en verstandelijke beperking
Woodhouse Sakati-syndroom
syndroom van diabetes, hypogonadisme, doofheid en verstandelijke handicap
syndroom van diabetes, hypogonadisme, doofheid en mentale retardatie
Woodhouse Sakati syndrome
Diabetes, hypogonadism, deafness, intellectual disability syndrome
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.
Id816067005
StatusPrimitive
Associated withgenetische aandoening
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified