Autosomal recessive hereditary disorder
Spinocerebellar ataxia
||
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder)
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal recessive cerebellar ataxia due to STUB1 (STIP1 homology and U-box containing protein 1) deficiency
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency
SCAR16 - spinocerebellar ataxia autosomal recessive type 16
Spinocerebellar ataxia autosomal recessive type 16
A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.
autosomaal recessieve cerebellaire ataxie door 'stress-induced phosphoprotein 1'-homologie en 'U-box containing protein 1'-deficiëntie
ARCA16
autosomaal recessieve cerebellaire ataxie door STUB1-deficiëntie
autosomaal recessieve spinocerebellaire ataxie type 16
autosomaal recessieve cerebellaire ataxie door STIP1-homologie en 'U-box containing protein 1'-deficiëntie
Id782719004
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
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