hereditary motor and sensory neuropathy, type IIC

Preferred Label : hereditary motor and sensory neuropathy, type IIC;

MeSH note : mutation in TRPV4;

MeSH synonym : HMSN2C; CMT2C; HMSN IIC; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C; Charcot-Marie-Tooth neuropathy, type 2C;

Détails

Origin ID

C565261;

UMLS CUI

C1853710;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2C [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) [SNOMED CT concept]
- Charcot Marie Tooth disease type 2C [Disease (Nov.)]
- Charcot-Marie-Tooth disease axonal type 2C [DO Concept]
- Hereditary motor and sensory neuropathy, type iic [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
Record concept(s)
- hereditary motor and sensory neuropathy, type IIC [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2C [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) [SNOMED CT concept]
- Hereditary motor and sensory neuropathy, type iic [OMIM Phenotype]

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