Spinal muscular atrophy, segmental

Preferred Label : Spinal muscular atrophy, segmental;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles (Kamholz et al., 1988). The disease is usually sporadic and nonprogressive.;

Inheritance : ? Autosomal dominant;

Prefixed ID : 183020;

Details

Origin ID

183020;

UMLS CUI

C1866774;

Currated CISMeF NLP mapping
- Segmental spinal muscular atrophy [HPO term]
- spinal muscular atrophy, segmental [MeSH concept]
- spinal muscular atrophy, segmental [MeSH Supplementary Concept]
HPO term(s)
- Abnormal anterior horn cell morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hand muscle atrophy [HPO term]
- Segmental spinal muscular atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Segmental spinal muscular atrophy [HPO term]
- spinal muscular atrophy, segmental [MeSH Supplementary Concept]
- spinal muscular atrophy, segmental [MeSH concept]

Keyword's position in hierarchy(ies) :

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