leukodystrophy, hypomyelinating, 5

Preferred Label : leukodystrophy, hypomyelinating, 5;

MeSH note : mutation on hyccin (FAM126A);

MeSH synonym : hypomyelination and congenital cataract;

Details

Origin ID

C567166;

UMLS CUI

C1864663;

Currated CISMeF NLP mapping
- Hypomyelination and congenital cataract (disorder) [SNOMED CT concept]
- Hypomyelination-congenital cataract syndrome [ORDO Disease]
- Leukodystrophy, hypomyelinating, 5 [OMIM Phenotype]
- hypomyelinating leukodystrophy 5 [DO Concept]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- hereditary central nervous system demyelinating diseases [MeSH Descriptor]
Record concept(s)
- leukodystrophy, hypomyelinating, 5 [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelination and congenital cataract (disorder) [SNOMED CT concept]
- Hypomyelination-congenital cataract syndrome [ORDO Disease]
- Leukodystrophy, hypomyelinating, 5 [OMIM Phenotype]
- hypomyelinating leukodystrophy 5 [DO Concept]

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