spinocerebellaire ataxie type 37 (aandoening)
spinocerebellaire ataxie type 37
Spinocerebellar ataxia type 37
Spinocerebellar ataxia with altered vertical eye movement
Disease with characteristics of cerebellar syndrome along with altered vertical eye movements. Reported in nine members of Spanish kindred to date. Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations are slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. The causal gene is unknown but it has been mapped to chromosome 1p32 and named the SCA37 locus. Inherited in an autosomal dominant manner.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van hereditaire ataxie
SNOMED CT to Orphanet simple map363710
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified