Autosomal dominant hereditary disorder	Congenital anomaly of peripheral nerve	Congenital degeneration of nervous system	Disorder of sensory function	Hereditary degenerative disease of central nervous system	Leukodystrophy Leucodystrophy	Peripheral demyelinating neuropathy	Waardenburg's syndrome
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Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
	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.
	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

Id	765325002
Status	Primitive

Associated morphology	Demyelination
Finding site	Peripheral nerve structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Myelin sheath alteration
Finding site	Myelinated nerve fiber structure

Finding site	Ear structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypopigmentation
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dystrophy
Finding site	White matter structure of brain and spinal cord

Interprets

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E75.2
Rule	TRUE
Advice	ALWAYS E75.2
Correlation	SNOMED CT source code to target map code correlation not specified