| autosomaal recessief syndroom van cerebellaire ataxie, piramidale symptomen, nystagmus en oculomotorische apraxie (aandoening) | | autosomaal recessief syndroom van cerebellaire ataxie, piramidale symptomen, nystagmus en oculomotorische apraxie | | Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome | | A rare genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and in some, retrocerebellar cysts. |
| | Id | 763312008 | | 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 | 363429 |
| 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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