OMOP Concept 45773528
Progressive myoclonus epilepsy with ataxia
StandardConditionSNOMED702326000Disorder
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 Progressive myoclonus epilepsy with ataxia via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C580388 | Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia | Non-standard |
Synonyms
Alternative names recorded for Progressive myoclonus epilepsy with ataxia across source vocabularies.
- epilepsia mioclónica progresiva con ataxia
- epilepsia mioclónica progresiva con ataxia (trastorno)
- PRICKLE1-related progressive myoclonic epilepsy with ataxia
- Progressive myoclonic epilepsy 1B
- Progressive myoclonus epilepsy with ataxia (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Hereditary disorder of nervous system
- 1Progressive myoclonic epilepsy
- 2Autosomal hereditary disorder
- 2Disorder of nervous system
- 2Epilepsy syndrome with progressive neurological deterioration
- 2Hereditary disorder by system
- 3Disorder of body system
- 3Epilepsy
- 3Hereditary disease
- 4Disease
- 4Genetic disease
- 4OMOP Seizure 1
- 4Seizure disorder
- 5Clinical finding
- 5Disorder of brain
- 5Seizure
- 6Disorder of head
- 6Disorder of the central nervous system
- 6Finding of brain
- 6Seizure related finding
- 7Central nervous system finding
- 7Head finding
- 7Neurological finding
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