Spinal Muscular Atrophy Type 2

Preferred Label : Spinal Muscular Atrophy Type 2;

NCIt synonyms : SMA2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SMN1 gene, encoding survival motor neuron protein. It is characterized by onset between 3 and 15 months of age, and is intermediate in terms of severity between spinal muscular atrophy (SMA) type I and SMA type III.;

Details

Origin ID

C156310;

UMLS CUI

C0393538;

Automatic exact mappings (from CISMeF team)
- intermediate spinal muscular atrophy [DO Concept]
- spinal muscular atrophies of childhood [MeSH Descriptor]
- survival of motor neuron 1, telomeric [ORDO Gene]
CISMeF manual mappings
- spinal muscular atrophy type II [Disease (Nov.)]
Currated CISMeF NLP mapping
- Proximal spinal muscular atrophy type 2 [ORDO Disease]
- Spinal muscular atrophy, type II [OMIM Phenotype]
- Spinal muscular atrophy, type II (disorder) [SNOMED CT concept]
- muscular atrophy, spinal, type II [MeSH concept]
DO Cross reference
- intermediate 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)
- Proximal spinal muscular atrophy type 2 [ORDO Disease]
- Spinal muscular atrophy type II [MedDRA LLT]
- Spinal muscular atrophy, type II [OMIM Phenotype]
- Spinal muscular atrophy, type II (disorder) [SNOMED CT concept]
- intermediate spinal muscular atrophy [DO Concept]
- muscular atrophy, spinal, type II [MeSH concept]
- spinal muscular atrophy type II [Disease (Nov.)]
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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