Charcot-Marie-Tooth disease, type 2H

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

MeSH synonym : Charcot-Marie-Tooth disease, axonal, type 2H; Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive; Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive; Cmt2h;

Details

Origin ID

C535415;

UMLS CUI

C1843173;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 2H [ICD-11 More detail]
CISMeF manual mappings
- Charcot-Marie-Tooth disease type 2H (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease axonal type 2H [DO Concept]
- Charcot-Marie-Tooth disease type 2H [ORDO Disease]
- Charcot-marie-tooth disease, axonal, type 2h [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
ORDO relation(s)
- Charcot-Marie-Tooth disease type 2H [ORDO Disease]
Record concept(s)
- Charcot-Marie-Tooth disease, Type 2H [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease axonal type 2H [DO Concept]
- Charcot-Marie-Tooth disease type 2H [ORDO Disease]
- Charcot-Marie-Tooth disease type 2H (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, axonal, type 2h [OMIM Phenotype]

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