Charcot-Marie-Tooth disease 1 autosomal dominant due to chromosome 17 duplication

Preferred Label : Charcot-Marie-Tooth disease 1 autosomal dominant due to chromosome 17 duplication;

ICD-11 synonym : Charcot-Marie-Tooth disease type 1A; CMT1A - [Charcot-Marie-Tooth disease type 1A]; Charcot Marie Tooth disease 1 autosomal dominant secondary to the chromosome 17 duplication;

ICD-11 acronym : CMT1A;

Details

Origin ID

307487830;

UMLS CUI

C0270911;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth Disease Type 1A [NCIt concept]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease, type IA (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, demyelinating, type 1a [OMIM Phenotype]
See also inter- (CISMeF)
- PMP22 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot Marie Tooth disease type 1A [Disease (Nov.)]
- Charcot-Marie-Tooth Disease Type 1A [NCIt concept]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease, type IA (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ia [MeSH concept]
- Charcot-marie-tooth disease, demyelinating, type 1a [OMIM Phenotype]
- charcot-marie-tooth disease, type ia [SNOMED Notion]
Validated automatic mappings to NTBT
- charcot-marie-tooth disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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