| 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. |
| | Id | 816067005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 3464 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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