OMOP Concept 45766380
Spinal muscular atrophy with progressive myoclonic epilepsy
StandardConditionSNOMED703524005Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2014
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Spinal muscular atrophy with progressive myoclonic epilepsy via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537563 | Jankovic Rivera syndrome | Non-standard |
Synonyms
Alternative names recorded for Spinal muscular atrophy with progressive myoclonic epilepsy across source vocabularies.
- atrofia de músculos espinales con epilepsia mioclónica progresiva
- atrofia de músculos espinales con epilepsia mioclónica progresiva (trastorno)
- Hereditary myoclonus with progressive distal muscular atrophy
- Jankovic-Rivera syndrome
- mioclonía hereditaria con atrofia muscular distal progresiva
- síndrome de Jankovic-Rivera
- Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(31)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Chronic brain syndrome
- 1Progressive myoclonic epilepsy
- 1Spinal muscular atrophy
- 2Autosomal hereditary disorder
- 2Chronic nervous system disorder
- 2Disorder of brain
- 2Epilepsy syndrome with progressive neurological deterioration
- 2Hereditary motor neuron disease
- 2Lower motor neuron disease
- 3Chronic disease
- 3Disorder of head
- 3Disorder of nervous system
- 3Disorder of the central nervous system
- 3Epilepsy
- 3Finding of brain
- 3Hereditary disease
- 3Hereditary disorder of nervous system
- 3Motor neuron disease
- 4Central nervous system finding
- 4Disease
- 4Disorder of body system
- 4Genetic disease
- 4Head finding
- 4Hereditary disorder by system
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