spinal muscular atrophy, childhood, proximal, autosomal dominant

Preferred Label : spinal muscular atrophy, childhood, proximal, autosomal dominant;

MeSH note : mutation in DYNC1H1;

MeSH synonym : spinal muscular atrophy, juvenile, proximal, autosomal dominant; Kugelberg-Welander syndrome, autosomal dominant;

Details

Origin ID

C563560;

UMLS CUI

C1834690;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant [OMIM Phenotype]
MeSH term(s) associated for indexing
- spinal muscular atrophies of childhood [MeSH Descriptor]
Record concept(s)
- spinal muscular atrophy, childhood, proximal, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) [SNOMED CT concept]
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant [OMIM Phenotype]

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