leukodystrophy, hypomyelinating, 2

Preferred Label : leukodystrophy, hypomyelinating, 2;

MeSH synonym : Pelizaeus-Merzbacher-Like disease, 1;

Origin ID

C563855;

UMLS CUI

C1837355;

Automatic exact mappings (from CISMeF team)
- PML nuclear body scaffold [ORDO Gene]
- Progressive multifocal leukoencephalopathy [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Leukodystrophy, hypomyelinating, 2 [OMIM Phenotype]
- Pelizaeus-Merzbacher-like disease [ICD-11 Subcategory]
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation [ORDO Disease]
- hypomyelinating leukodystrophy 2 [DO Concept]
MeSH term(s) associated for indexing
- hereditary central nervous system demyelinating diseases [MeSH Descriptor]
Record concept(s)
- leukodystrophy, hypomyelinating, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukodystrophy, hypomyelinating, 2 [OMIM Phenotype]
- Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) [SNOMED CT concept]
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation [ORDO Disease]