| autosomaal recessieve cerebellaire ataxie met oculomotorische apraxie type 2 (aandoening) | | autosomaal recessieve cerebellaire ataxie met oculomotorische apraxie type 2 | | Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 | | Spinocerebellar ataxia with axonal neuropathy type 2
SCAR1 - spinocerebellar ataxia autosomal recessive 1
AOA2 - ataxia oculomotor apraxia type 2
| | A rare autosomal recessive cerebellar ataxia with characteristics of progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. This disease is mostly an adolescent onset disorder. Caused by mutations in SETX gene (9q34), encoding senataxin protein, a DNA/RNA helicase in nucleus which is implicated in DNA break repair. Mutations in the gene PIK3R5 (17p13.1) have also been implicated in the pathogenesis of this disease. Transmission is autosomal recessive. |
| | Id | 725408001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G60.2 | | Term | Neuropathie in verband met hereditaire ataxie |
| Target | H51.8 | | Term | Overige gespecificeerde stoornissen in binoculaire oogbewegingen |
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| SNOMED CT to Orphanet simple map | 64753 |
| SNOMED CT to ICD-10 extended map | | Target | G60.2 | | Rule | TRUE | | Advice | ALWAYS G60.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H51.8 | | Rule | TRUE | | Advice | ALWAYS H51.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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