X-gebonden spinocerebellaire ataxie type 4 (aandoening)
X-gebonden spinocerebellaire ataxie type 4
X-gebonden ataxie-dementiesyndroom
X-linked spinocerebellar ataxia type 4
X-linked ataxia dementia syndrome
Spinocerebellar ataxia, X-linked, type 4 has characteristics of ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermVroeg optredende cerebellaire ataxie
SNOMED CT to Orphanet simple map85292
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.1
CorrelationSNOMED CT source code to target map code correlation not specified