Autosomal recessive hereditary disorder
Depletion of mitochondrial DNA
Early onset cerebellar ataxia
Hereditary ataxia
Inherited metabolic disorder of nervous system
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Recessive mitochondrial ataxia syndrome (disorder)
Recessive mitochondrial ataxia syndrome
MIRAS - mitochondrial recessive ataxia syndrome
A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.
Id782696001
StatusPrimitive
Finding siteCerebellar structure
OccurrenceCongenital
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.8
TermOverige gespecificeerde vormen van hereditaire ataxie
SNOMED CT to ICD-10 extended map
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified