Autosomal recessive hereditary disorder
Cerebellar ataxia
Chronic brain syndrome
Chronic mental disorder
Developmental hereditary disorder
Generalized epilepsy
Hereditary ataxia
Intellectual disability
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Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
SCAR23 - spinocerebellar ataxia autosomal recessive type 23
Spinocerebellar ataxia autosomal recessive type 23
A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.
autosomaal recessieve spinocerebellaire ataxie type 23
SCAR-23
Id773498006
StatusPrimitive
Finding siteCerebellar structure
Clinical courseProgressive
Finding siteCerebrum
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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