| autosomaal recessieve cerebellaire ataxie met oculomotorische apraxie type 1 (aandoening) | | autosomaal recessieve cerebellaire ataxie met oculomotorische apraxie type 1 | | Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 | | AOA1 (ataxia oculomotor apraxia type 1)
Autosomal recessive ataxia with oculomotor apraxia type 1
Ataxia oculomotor apraxia type 1
| | A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. |
| | Id | 715366004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G11.3 | | Term | Cerebellaire ataxie met stoornis in DNA-reparatie |
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| SNOMED CT to Orphanet simple map | 1168 |
| SNOMED CT to ICD-10 extended map | | Target | G11.3 | | Rule | TRUE | | Advice | ALWAYS G11.3 | 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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