| 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
| | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. |
| | 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 | 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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