peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease

Preferred Label : peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease;

MeSH synonym : Waardenburg-Shah syndrome, neurologic variant;

Détails

Origin ID

C563789;

UMLS CUI

C1836727;

Automatic exact mappings (from CISMeF team)
- Waardenburg-Shah syndrome, neurologic variant [ICD-11 More detail]
Currated CISMeF NLP mapping
- PCWH syndrome [DO Concept]
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) [SNOMED CT concept]
- Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [OMIM Phenotype]
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease [ORDO Disease]
MeSH term(s) associated for indexing
- heredodegenerative disorders, nervous system [MeSH Descriptor]
- hirschsprung disease [MeSH Descriptor]
- polyneuropathies [MeSH Descriptor]
- waardenburg syndrome [MeSH Descriptor]
Record concept(s)
- peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) [SNOMED CT concept]
- Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [OMIM Phenotype]
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease [ORDO Disease]

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