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Richards-Rundle-syndroom (aandoening)
Richards-Rundle-syndroom
syndroom van Richards-Rundle
Richards-Rundle syndrome
An extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
Id715415005
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
referentieset met complexe 'mapping' naar ICD-10
TargetG60.2
RuleTRUE
AdviceALWAYS G60.2
CorrelationSNOMED CT source code to target map code correlation not specified