Autosomal recessive hereditary disorder
Spinocerebellar ataxia
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Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency
SCAR15 - autosomal recessive spinocerebellar ataxia type 15
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency
Autosomal recessive spinocerebellar ataxia type 15
Salih ataxia
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency
An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.
Id782721009
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.1
TermVroeg optredende cerebellaire ataxie
SNOMED CT to ICD-10 extended map
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified