| retinale vasculopathie met cerebrale leuko-encefalopathie en systemische manifestaties (aandoening) | | retinale vasculopathie met cerebrale leuko-encefalopathie en systemische manifestaties | | RVCL-S
retinale vasculopathie met cerebrale leukodystrofie en systemische manifestaties
| | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | RVCL-S - retinal vasculopathy, cerebral leukoencephalopathy, systemic manifestations
RVCL - retinal vasculopathy cerebral leukoencephalopathy
| | An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. |
| | Id | 783787000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H35.0 | | Term | 'Background' retinopathie en vasculaire veranderingen van retina |
| Target | G93.4 | | Term | Encefalopathie, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 247691 |
| SNOMED CT to ICD-10 extended map | | Target | H35.0 | | Rule | TRUE | | Advice | ALWAYS H35.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G93.4 | | Rule | TRUE | | Advice | ALWAYS G93.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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