Charcot-Marie-Tooth disease, axonal, type 2A2

Preferred Label : Charcot-Marie-Tooth disease, axonal, type 2A2;

MeSH note : PROM;

MeSH synonym : HMSN2A2; HMSNIIA2; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2; CMT2A2; Charcot-Marie-Tooth disease, neuronal, type 2A2; Charcot-Marie-Tooth neuropathy, type 2A2; hereditary motor and sensory neuropathy IIA2;

Details

Origin ID

C563757;

UMLS CUI

C1836485;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2A2A [NCIt concept]
- Charcot-Marie-Tooth disease type 2A2A [DO Concept]
- Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, axonal, type 2A2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 [ORDO Disease]
- Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a [OMIM Phenotype]

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