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.

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