neuropathy, distal hereditary motor, type VIIA

Preferred Label : neuropathy, distal hereditary motor, type VIIA;

MeSH synonym : spinal muscular atrophy, distal, with vocal cord paralysis; HMN VIIA; HMN7A; DHMNVP; Harper-Young myopathy;

Details

Origin ID

C563562;

UMLS CUI

C1834703;

Automatic exact mappings (from CISMeF team)
- Distal hereditary motor neuropathy type 7 [ORDO Disease]
- distal hereditary motor neuronopathy type 7 [DO Concept]
- distal hereditary motor neuronopathy type 7A [DO Concept]
- distal hereditary motor neuronopathy type 7B [DO Concept]
Currated CISMeF NLP mapping
- Neuronopathy, distal hereditary motor, autosomal dominant 7 [OMIM Phenotype]
MeSH term(s) associated for indexing
- hereditary sensory and motor neuropathy [MeSH Descriptor]
- muscular atrophy, spinal [MeSH Descriptor]
- vocal cord paralysis [MeSH Descriptor]
Record concept(s)
- neuropathy, distal hereditary motor, type VIIA [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuronopathy, distal hereditary motor, autosomal dominant 7 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Distal hereditary motor neuropathy type 7 [ORDO Disease]
- Distal hereditary motor neuropathy type 7 (disorder) [SNOMED CT concept]

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