Spinal Muscular Atrophy of Childhood

Preferred Label : Spinal Muscular Atrophy of Childhood;

NCIt definition : A group of congenital neurodegenerative disorders affecting motor neurons, resulting in muscle weakness and atrophy in childhood. Signs and symptoms include hypotonia, difficulty breathing, poor feeding, and flaccid quadriplegia.;

Details

Origin ID

C85076;

UMLS CUI

C0700595;

Automatic exact mappings (from CISMeF team)
- HMN (Hereditary motor neuropathy) proximal type I [MeSH concept]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
- childhood spinal muscular atrophy [DO Concept]
- juvenile spinal muscular atrophy [DO Concept]
Currated CISMeF NLP mapping
- spinal muscular atrophies of childhood [Disease (Nov.)]
- spinal muscular atrophies of childhood [MeSH Descriptor]
- spinal muscular atrophies of childhood [MeSH concept]
DO Cross reference
- childhood spinal muscular atrophy [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- childhood spinal muscular atrophy [DO Concept]
- spinal muscular atrophies of childhood [Disease (Nov.)]
- spinal muscular atrophies of childhood [MeSH concept]
- spinal muscular atrophies of childhood [MeSH Descriptor]
Validated automatic mappings to BTNT
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients