| syndroom van autosomaal recessieve cerebellaire ataxie en psychomotorische ontwikkelingsachterstand (aandoening) | | syndroom van autosomaal recessieve cerebellaire ataxie en psychomotorische ontwikkelingsachterstand | | autosomaal recessieve spinocerebellaire ataxie type 11
ARCA11
| | Autosomal recessive cerebellar ataxia, psychomotor delay syndrome | | Autosomal recessive spinocerebellar ataxia type 11
| | A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. |
| | Id | 783060009 | | 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 | 284271 |
| 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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