autosomaal dominante hereditaire aandoening
spinocerebellaire ataxie
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spinocerebellaire ataxie type 26 (aandoening)
spinocerebellaire ataxie type 26
SCA26
Spinocerebellar ataxia type 26
A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly.
Id718769009
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.2
TermLaat optredende cerebellaire ataxie
SNOMED CT to Orphanet simple map101112
SNOMED CT to ICD-10 extended map
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified