Charcot-Marie-Tooth disease, type 2J

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

MeSH synonym : Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities; Charcot-Marie-Tooth disease, axonal, type 2J; Charcot-Marie-Tooth neuropathy, type 2j; Cmt2j; CMT 2J;

Details

Origin ID

C535417;

UMLS CUI

C1843153;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 2J [ICD-11 More detail]
- myelin protein zero [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2J [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease type 2J [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2j [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, Type 2J [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2J [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, axonal, type 2j [OMIM Phenotype]

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