| 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 (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. |
| | 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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