Spinal muscular atrophy with impaired intellectual development

Preferred Label : Spinal muscular atrophy with impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Spinal muscular atrophy with mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 271109;

Details

Origin ID

271109;

UMLS CUI

C1849109;

Currated CISMeF NLP mapping
- spinal muscular atrophy with mental retardation [MeSH concept]
- spinal muscular atrophy with mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Spinal muscular atrophy [HPO term]
- Syndactyly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spinal muscular atrophy with mental retardation [MeSH Supplementary Concept]
- spinal muscular atrophy with mental retardation [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients