OMOP Concept 372605
Spinal muscular atrophy
StandardConditionSNOMED5262007Disorder
Maps from
49
Descendants
27
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
49 source codes normalize to Spinal muscular atrophy via the OMOP "Maps to" relationship.
Synonyms
Alternative names recorded for Spinal muscular atrophy across source vocabularies.
- AME - atrofia muscular espinal
- atrofia muscular espinal
- atrofia muscular espinal progresiva
- atrofia muscular espinal (trastorno)
- Progressive spinal muscular atrophy
- SMA - Spinal muscular atrophy
- Spinal muscular atrophy (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(13)Roll up to these when you need a wider cohort.
- 1Chronic nervous system disorder
- 1Hereditary motor neuron disease
- 1Lower motor neuron disease
- 2Chronic disease
- 2Disorder of nervous system
- 2Hereditary disorder of nervous system
- 2Motor neuron disease
- 3Disease
- 3Disorder of body system
- 3Hereditary disorder by system
- 4Clinical finding
- 4Hereditary disease
- 5Genetic disease
Narrower concepts
(27)Included automatically when you query with descendants.
- 1Adult spinal muscular atrophy
- 1Autosomal dominant adult-onset proximal spinal muscular atrophy
- 1Bulbospinal neuronopathy
- 1Distal spinal muscular atrophy
- 1Facioscapulohumeral spinal muscular atrophy
- 1Hereditary canine spinal muscular atrophy
- 1Kugelberg-Welander disease
- 1Lower motor neuron syndrome with late-adult onset
- 1Oculopharyngeal spinal muscular atrophy
- 1Progressive bulbar palsy of childhood
- 1Scapulohumeral spinal muscular atrophy
- 1Scapuloperoneal spinal muscular atrophy
- 1Spinal atrophy, ophthalmoplegia, pyramidal syndrome
- 1Spinal muscular atrophy, type II
- 1Spinal muscular atrophy with lower extremity predominance
- 1Spinal muscular atrophy with progressive myoclonic epilepsy
- 1Werdnig-Hoffmann disease
- 1X-linked distal arthrogryposis multiplex congenita
- 2Autosomal dominant congenital benign spinal muscular atrophy
- 2Autosomal recessive lower motor neuron disease with childhood onset
- 2Distal hereditary motor neuropathy type 1
- 2Distal hereditary motor neuropathy type 7
- 2Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome
- 2Facioscapulohumeral spinal muscular atrophy with sensory loss
- 2Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
- 2Spinal muscular atrophy with respiratory distress type 2
- 2X-linked distal spinal muscular atrophy type 3
Get this concept via the API
Resolve Spinal muscular atrophy - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/372605?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card