Charcot-Marie-Tooth disease, axonal, type 2a1

Preferred Label : Charcot-Marie-Tooth disease, axonal, type 2a1;

MeSH synonym : Charcot-Marie-Tooth disease, neuronal, type 2a1; Charcot-Marie-Tooth neuropathy, type 2A1; HMSN IIA1; hereditary motor and sensory neuropathy IIA1; CMT2A1; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2a1; HMSN2A1;

Details

Origin ID

C566138;

UMLS CUI

C1861678;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2A1 [NCIt concept]
- Charcot-Marie-Tooth disease type 2A1 [DO Concept]
- Charcot-Marie-Tooth disease type 2A1 [ICD-11 More detail]
- Charcot-marie-tooth disease, axonal, type 2a1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2A1 [NCIt concept]
- Charcot-marie-tooth disease, axonal, type 2a1 [OMIM Phenotype]

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