| autosomaal recessieve ataxie door ubichinondeficiëntie (aandoening) | | autosomaal recessieve ataxie door ubichinondeficiëntie | | autosomaal recessieve cerebellaire ataxie type 2
autosomaal recessieve ataxie door co-enzym Q10-deficiëntie
ARCA2
| | Autosomal recessive ataxia due to ubiquinone deficiency | | Autosomal recessive spinocerebellar ataxia type 9
ARCA2 - autosomal recessive cerebellar ataxia type 2
Autosomal recessive ataxia due to coenzyme Q10 deficiency
| | Syndrome with characteristics of childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present. The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene on chromosome 1q42 have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast. The syndrome is transmitted as an autosomal recessive trait. |
| | Id | 725394006 | | 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 | 139485 |
| 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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