| syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke beperking door deficiëntie van 'RUN and cysteine rich domain containing beclin 1 interacting protein' (aandoening) | | syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke beperking door 'RUN en cysteine rich domain containing beclin 1 interacting protein'-deficiëntie | | autosomaal recessieve spinocerebellaire ataxie type 15
syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke handicap door RUBCN-deficiëntie
ARCA15
syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke beperking door deficiëntie van 'RUN and cysteine rich domain containing beclin 1 interacting protein'
syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en mentale retardatie door RUBCN-deficiëntie
| | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | | SCAR15 - autosomal recessive spinocerebellar ataxia type 15
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency
Autosomal recessive spinocerebellar ataxia type 15
Salih ataxia
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency
| | An extremely rare autosomal recessive hereditary cerebellar ataxia disorder with characteristics of early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. |
| | Id | 782721009 | | 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 | 404499 |
| 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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