hereditary motor and sensory neuropathy VI

Preferred Label : hereditary motor and sensory neuropathy VI;

MeSH note : mutation in MFN2;

MeSH synonym : peripheral neuropathy and optic atrophy; HMSN VI; HMSN6; Charcot-Marie-Tooth disease, type 6; CMT6;

Details

Origin ID

C562851;

UMLS CUI

C0393807;

Currated CISMeF NLP mapping
- Charcot Marie Tooth disease type 6 [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 6 [DO Concept]
- Hereditary motor and sensory neuropathy type 6 [ICD-11 More detail]
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
- Hereditary motor and sensory neuropathy with optic atrophy (disorder) [SNOMED CT concept]
- Neuropathy, hereditary motor and sensory, type via, with optic atrophy [OMIM Phenotype]
MeSH term(s) associated for indexing
- hereditary sensory and motor neuropathy [MeSH Descriptor]
Record concept(s)
- hereditary motor and sensory neuropathy VI [MeSH concept]
See also inter- (CISMeF)
- Autosomal dominant optic atrophy plus syndrome [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot Marie Tooth disease type 6 [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 6 [DO Concept]
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
- Hereditary motor and sensory neuropathy with optic atrophy (disorder) [SNOMED CT concept]
- Neuropathy, hereditary motor and sensory, type via, with optic atrophy [OMIM Phenotype]

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