Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Spinocerebellar ataxia
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Richards-Rundle syndrome (disorder)
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.
Richards-Rundle-syndroom
syndroom van Richards-Rundle
Id715415005
StatusPrimitive
Finding siteStructure of auditory system
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG60.2
RuleTRUE
AdviceALWAYS G60.2
CorrelationSNOMED CT source code to target map code correlation not specified