Spinal Muscular Atrophy

Preferred Label : Spinal Muscular Atrophy;

NCIt related terms : Spinal muscular atrophy, unspecified;

NCIt definition : An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.;

Codes from synonyms : G12.9;

Details

Origin ID

C85075;

UMLS CUI

C0026847;

Automatic exact mappings (from CISMeF team)
- Spinal muscular atrophy [ICD-9 code]
- Spinal muscular atrophy [LOINC component]
- Spinal muscular atrophy, unspecified [ICD-10 Sub-category (who)]
DO Cross reference
- 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)
- Spinal amyotrophy [MedDRA LLT]
- Spinal muscular atrophy [ICD-9 code]
- Spinal muscular atrophy [MedDRA Preferred Term]
- Spinal muscular atrophy [HPO term]
- Spinal muscular atrophy [ICD-11 Category]
- Spinal muscular atrophy [LOINC component]
- Spinal muscular atrophy (disorder) [SNOMED CT concept]
- Spinal muscular atrophy, unspecified [MedDRA LLT]
- Spinal muscular atrophy, unspecified [ICD-10 Sub-category]
- Spinal muscular atrophy, unspecified [ICD-9 code]
- muscular atrophy, spinal [MeSH concept]
- muscular atrophy, spinal [MeSH Descriptor]
- spinal muscular atrophy [DO Concept]
- spinal muscular atrophy [Disease (Nov.)]
- spinal muscular atrophy [MedlinePlus Topic]
- spinal muscular atrophy, nos [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- mCode Elixhauser Neurological Movement Disorder Value Set [NCIt concept]
- mCode 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]

Keyword's position in hierarchy(ies) :

Main resources

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