Charcot-Marie-Tooth disease, type 2K

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

MeSH synonym : Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K; Charcot-Marie-Tooth disease, axonal, type 2K; CMT 2K; Charcot-Marie-Tooth neuropathy, axonal, type 2k; Cmt2k;

Détails

Origin ID

C535418;

UMLS CUI

C1842983;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2K [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ICD-11 More detail]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2K [NCIt concept]
- Charcot-Marie-Tooth disease axonal type 2K [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2k [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, Type 2K [MeSH concept]
See also inter- (CISMeF)
- Charcot-marie-tooth disease, axonal, type 2k [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2K [NCIt concept]
- Charcot-Marie-Tooth disease axonal type 2K [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2k [OMIM Phenotype]

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