Charcot-Marie-Tooth disease, axonal, type 2n

Preferred Label : Charcot-Marie-Tooth disease, axonal, type 2n;

MeSH synonym : Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2n; Charcot-Marie-Tooth neuropathy, axonal, type 2n;

Détails

Origin ID

C567653;

UMLS CUI

C2750090;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2N [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2N [ICD-11 More detail]
- Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2N [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2n [OMIM Phenotype]
MeSH term(s) associated for indexing
- Alanine-tRNA ligase [MeSH Descriptor]
- charcot-marie-tooth disease [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, axonal, type 2n [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2N [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, axonal, type 2n [OMIM Phenotype]

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