Charcot-marie-tooth disease, axonal, type 2g

Preferred Label : Charcot-marie-tooth disease, axonal, type 2g;

Obsolete resource : true;

Moved to : 614436;

Alternative titles and symbols : Cmt2g; Charcot-marie-tooth neuropathy, type 2g;

Description : For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).;

Inheritance : Autosomal dominant;

Prefixed ID : 608591;

Détails

Origin ID

608591;

UMLS CUI

C1837805;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2G [MeSH concept]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2G [ORDO Disease]
HPO term(s)
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2G [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2G [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2G [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients