X-linked Charcot-Marie-Tooth disease type 5 - CISMeF

" /> X-linked Charcot-Marie-Tooth disease type 5 - CISMeF

CISMeF

chu

X-linked Charcot-Marie-Tooth disease type 5ICD-11 More detail

Preferred Label : X-linked Charcot-Marie-Tooth disease type 5;

Details

Origin ID

2045648964;

UMLS CUI

C1839566;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease X-linked recessive 5 [DO Concept]
- Charcot-marie-tooth disease, X-linked recessive, 5 [OMIM Phenotype]
- X-linked Charcot-Marie-Tooth disease type 5 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 5 (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease X-linked recessive 5 [DO Concept]
- Charcot-marie-tooth disease, X-linked recessive, 5 [OMIM Phenotype]
- Optic atrophy polyneuropathy deafness [MeSH concept]
- Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive [OMIM Phenotype]
- X-linked Charcot-Marie-Tooth disease type 5 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 5 (disorder) [SNOMED CT concept]
- optic atrophy polyneuropathy deafness [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
21/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.