Spinal Muscular Atrophy Type 3

Preferred Label : Spinal Muscular Atrophy Type 3;

NCIt synonyms : Spinal Muscular Atrophy III; Juvenile Spinal Muscular Atrophy; Kugelberg-Welander Disease; Kugelberg-Welander Syndrome;

NCIt definition : A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult.;

Details

Origin ID

C118847;

UMLS CUI

C0152109;

Currated CISMeF NLP mapping
- Juvenile form spinal muscular dystrophy, Type III [ICD-11 Subcategory]
- Kugelberg-Welander disease [MedDRA LLT]
- Kugelberg-Welander disease [PASCAL descriptor]
- Kugelberg-Welander disease [ICD-9 code]
- Kugelberg-Welander disease (disorder) [SNOMED CT concept]
- Proximal spinal muscular atrophy type 3 [ORDO Disease]
- Spinal muscular atrophy (disorder) [SNOMED CT concept]
- Spinal muscular atrophy, type III [OMIM Phenotype]
- juvenile spinal muscular atrophy [DO Concept]
- juvenile spinal muscular atrophy [MeSH concept]
- kugelberg-welander disease [SNOMED Notion]
- spinal muscular atrophy type III [Disease (Nov.)]
DO Cross reference
- juvenile 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)
- Juvenile form spinal muscular dystrophy, Type III [ICD-11 Subcategory]
- Kugelberg-Welander disease [ICD-9 code]
- Kugelberg-Welander disease [MedDRA LLT]
- Kugelberg-Welander disease (disorder) [SNOMED CT concept]
- Proximal spinal muscular atrophy type 3 [ORDO Disease]
- Spinal muscular atrophy type III [MedDRA LLT]
- Spinal muscular atrophy, type III [OMIM Phenotype]
- juvenile spinal muscular atrophy [MeSH concept]
- juvenile spinal muscular atrophy [DO Concept]
- kugelberg-welander disease [SNOMED Notion]
- spinal muscular atrophy type III [Disease (Nov.)]
Validated automatic mappings to NTBT
- Spinal muscular atrophy (disorder) [SNOMED CT concept]
- spinal muscular atrophies of childhood [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- SMN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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