Charcot-Marie-Tooth disease, recessive intermediate A

Preferred Label : Charcot-Marie-Tooth disease, recessive intermediate A;

MeSH note : mutation in GDAP1;

MeSH synonym : CMTRIA; Charcot-Marie-Tooth neuropathy, recessive intermediate A;

Details

Origin ID

C564256;

UMLS CUI

C1842197;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease intermediate type [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease recessive intermediate A [DO Concept]
- Charcot-marie-tooth disease, recessive intermediate a [OMIM Phenotype]
- Recessive intermediate Charcot-Marie-Tooth disease type A [ICD-11 More detail]
False automatic mappings
- Autosomal recessive intermediate Charcot-Marie-Tooth disease [ORDO Disease]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, recessive intermediate A [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Charcot-Marie-Tooth disease recessive intermediate A [DO Concept]
- Charcot-marie-tooth disease, recessive intermediate a [OMIM Phenotype]
Validated automatic mappings to NTBT
- Recessive intermediate Charcot-Marie-Tooth disease [ICD-11 More detail]

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