OMOP Concept 36675141
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
StandardConditionSNOMED771469002Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome across source vocabularies.
- AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
- AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
- Autosomal recessive spastic ataxia type 5
- Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)
- síndrome de ataxia espástica, epilepsia mioclónica, neuropatía de inicio temprano
- síndrome de ataxia espástica, epilepsia mioclónica, neuropatía de inicio temprano (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(51)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Chronic brain syndrome
- 1Chronic metabolic disorder
- 1Chronic myelopathy
- 1Mitochondrial cytopathy
- 1Progressive myoclonic epilepsy
- 1Spinocerebellar ataxia
- 2Autosomal hereditary disorder
- 2Cerebellar ataxia
- 2Chronic disease
- 2Chronic nervous system disorder
- 2Disorder of brain
- 2Epilepsy syndrome with progressive neurological deterioration
- 2Hereditary ataxia
- 2Hereditary cerebellar degeneration
- 2Metabolic disease
- 2Spinal cord disease
- 2Spinocerebellar disease
- 3Ataxia
- 3Cerebellar degeneration
- 3Cerebellar disorder
- 3Disease
- 3Disorder of head
- 3Disorder of nervous system
- 3Disorder of spinal region
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