spinal muscular atrophy, type I, with congenital bone fractures

Preferred Label : spinal muscular atrophy, type I, with congenital bone fractures;

Origin ID

C564805;

UMLS CUI

C1849101;

Currated CISMeF NLP mapping
- Spinal muscular atrophy, type I, with congenital bone fractures [OMIM Phenotype]
MeSH term(s) associated for indexing
- fractures, bone [MeSH Descriptor]
- spinal muscular atrophies of childhood [MeSH Descriptor]
Record concept(s)
- spinal muscular atrophy, type I, with congenital bone fractures [MeSH concept]
See also inter- (CISMeF)
- Spinal muscular atrophy with congenital bone fractures 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinal muscular atrophy, type I, with congenital bone fractures [OMIM Phenotype]