leukodystrophy, demyelinating, Adult-Onset, autosomal dominant

Preferred Label : leukodystrophy, demyelinating, Adult-Onset, autosomal dominant;

Définition CISMeF : Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.;

CISMeF acronym : ADLD;

MeSH synonym : multiple Sclerosis-Like disorder; Pelizaeus-Merzbacher disease, autosomal dominant or Late-Onset type;

Details

Origin ID

C566813;

UMLS CUI

C1868512;

Automatic exact mappings (from CISMeF team)
- LMNB1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Adult onset autosomal dominant leukodystrophy (disorder) [SNOMED CT concept]
- Adult-onset autosomal dominant leukodystrophy [ICD-11 More detail]
- Adult-onset autosomal dominant leukodystrophy [ORDO Disease]
- Leukodystrophy, demyelinating, adult-onset, autosomal dominant [OMIM Phenotype]
- adult-onset autosomal dominant demyelinating leukodystrophy [DO Concept]
MeSH term(s) associated for indexing
- pelizaeus-merzbacher disease [MeSH Descriptor]
Record concept(s)
- leukodystrophy, demyelinating, Adult-Onset, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-onset autosomal dominant leukodystrophy [ORDO Disease]
- Leukodystrophy, demyelinating, adult-onset, autosomal dominant [OMIM Phenotype]

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