leukodystrophy, dysmyelinating, with oligodontia

Preferred Label : leukodystrophy, dysmyelinating, with oligodontia;

MeSH note : mutation in POLR3A;

MeSH synonym : dentoleukoencephalopathy;

Details

Origin ID

C564344;

UMLS CUI

C3502054;

Currated CISMeF NLP mapping
- Odontoleukodystrophy [ORDO Disease]
- Odontoleukodystrophy (disorder) [SNOMED CT concept]
- hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
MeSH term(s) associated for indexing
- anodontia [MeSH Descriptor]
- hereditary central nervous system demyelinating diseases [MeSH Descriptor]
Record concept(s)
- leukodystrophy, dysmyelinating, with oligodontia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Odontoleukodystrophy [ORDO Disease]
- Odontoleukodystrophy (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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