| syndroom van perifere demyeliniserende neuropathie, centrale dysmyeliniserende leukodystrofie, syndroom van Waardenburg en ziekte van Hirschsprung (aandoening) | | syndroom van perifere demyeliniserende neuropathie, centrale dysmyeliniserende leukodystrofie, syndroom van Waardenburg en ziekte van Hirschsprung | | neurologisch syndroom van Waardenburg-Shah
syndroom van Shah-Waardenburg
WS4-plus
PCWH
syndroom van Waardenburg type 4
| | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease | | PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
Neurologic Waardenburg Shah syndrome
| | Rare syndrome with the association of the features of Waardenburg Shah and neurological features namely neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. Autonomic dysfunction (reduced saliva production, sweating and tearing, and bradycardia and arrhythmia) may also be present. Delayed white matter myelination is present on brain MRI, and may also be responsible for neuropathy at the peripheral level. Hirschsprung disease is sometimes absent. Most of the cases are caused by mutations involving the SOX10 gene (22q13.1): either a large deletion or point mutation located in the last two exons. |
| | Id | 765325002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E75.2 | | Term | Overige gespecificeerde sfingolipidosen |
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| SNOMED CT to Orphanet simple map | 163746 |
| SNOMED CT to ICD-10 extended map | | Target | E75.2 | | Rule | TRUE | | Advice | ALWAYS E75.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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