| autosomaal recessieve spinocerebellaire ataxie type 23 (aandoening) | | autosomaal recessieve spinocerebellaire ataxie type 23 | | SCAR-23
| | 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. |
| | Id | 773498006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G11.1 | | Term | Vroeg optredende cerebellaire ataxie |
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| SNOMED CT to Orphanet simple map | 404493 |
| SNOMED CT to ICD-10 extended map | | Target | G11.1 | | Rule | TRUE | | Advice | ALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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