spinal muscular atrophy, distal, congenital nonprogressive

Preferred Label : spinal muscular atrophy, distal, congenital nonprogressive;

MeSH note : mutation in TRPV4;

MeSH synonym : spinal muscular atrophy, congenital benign, with contractures;

Details

Origin ID

C563981;

UMLS CUI

C1838492;

Currated CISMeF NLP mapping
- Autosomal dominant benign distal spinal muscular atrophy [ICD-11 More detail]
- Autosomal dominant congenital benign spinal muscular atrophy [ORDO Disease]
- Autosomal dominant congenital benign spinal muscular atrophy (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, autosomal dominant 8 [OMIM Phenotype]
- distal hereditary motor neuronopathy type 8 [DO Concept]
MeSH term(s) associated for indexing
- muscular atrophy, spinal [MeSH Descriptor]
Record concept(s)
- spinal muscular atrophy, distal, congenital nonprogressive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant congenital benign spinal muscular atrophy (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, autosomal dominant 8 [OMIM Phenotype]

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