leukodystrophy, hypomyelinating, 4

Preferred Label : leukodystrophy, hypomyelinating, 4;

MeSH note : mutation in HSPD1;

MeSH synonym : mitochondrial Hsp60 chaperonopathy;

Origin ID

C567390;

UMLS CUI

C2677109;

Currated CISMeF NLP mapping
- Leukodystrophy, hypomyelinating, 4 [OMIM Phenotype]
- Pelizaeus Merzbacher like disease due to HSPD1 mutation (disorder) [SNOMED CT concept]
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [ORDO Disease]
- hypomyelinating leukodystrophy 4 [DO Concept]
MeSH term(s) associated for indexing
- hereditary central nervous system demyelinating diseases [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
Record concept(s)
- leukodystrophy, hypomyelinating, 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukodystrophy, hypomyelinating, 4 [OMIM Phenotype]
- Pelizaeus Merzbacher like disease due to HSPD1 mutation (disorder) [SNOMED CT concept]
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [ORDO Disease]
- hypomyelinating leukodystrophy 4 [DO Concept]