Charcot-Marie-Tooth disease, dominant intermediate B

Preferred Label : Charcot-Marie-Tooth disease, dominant intermediate B;

MeSH synonym : CMTDI1; Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia; Charcot-Marie-Tooth neuropathy, axonal, type 2m; Charcot-Marie-Tooth neuropathy, dominant intermediate B; CMTDIB; Charcot-Marie-Tooth disease, axonal, type 2m; Cmt2m; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2m;

Details

Origin ID

C564703;

UMLS CUI

C1847902;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ICD-11 More detail]
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) [SNOMED CT concept]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate B [DO Concept]
- Charcot-marie-tooth disease, dominant intermediate b [OMIM Phenotype]
- Charcot-marie-tooth disease, recessive intermediate b [OMIM Phenotype]
- Dominant intermediate Charcot-Marie-Tooth disease type B [ICD-11 More detail]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
- dynamin ii [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate B [DO Concept]
- Charcot-marie-tooth disease, dominant intermediate b [OMIM Phenotype]

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