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X-gebonden spinocerebellaire ataxie type 3 (aandoening)
X-gebonden spinocerebellaire ataxie type 3
X-gebonden ataxie-doofheidsyndroom
SCAX3
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.
Id719817002
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1
CorrelationSNOMED CT source code to target map code correlation not specified