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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
WS4-plus
PCWH
syndroom van Waardenburg type 4
neurologisch syndroom van Waardenburg-Shah
syndroom van Shah-Waardenburg
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
Neurologic Waardenburg Shah syndrome
PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
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.
Id765325002
StatusPrimitive
Associated morphologydemyelinisatie
Finding sitestructuur van perifere zenuw
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypopigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified