X-gebonden spinocerebellaire ataxie type 3 (aandoening)
X-gebonden spinocerebellaire ataxie type 3
X-gebonden ataxie-doofheidsyndroom
X-linked spinocerebellar ataxia type 3
X-linked ataxia deafness syndrome
This syndrome is a form of spinocerebellar degeneration with onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia and optic atrophy and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.
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 map85297
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.1
CorrelationSNOMED CT source code to target map code correlation not specified