| COL4A1-gerelateerde familiaire vasculaire leukencefalopathie (aandoening) | | COL4A1-gerelateerde familiaire vasculaire leukencefalopathie | | COL4A1-related familial vascular leukoencephalopathy | | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy
COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leukoencephalopathy syndrome
COL4A1-related brain small vessel disease with hemorrhage
| | A rare genetic neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent hemorrhagic and/or ischemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34. |
| | Id | 778060000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | I67.3 | | Term | Progressieve vasculaire leuko-encefalopathie |
| Target | M35.9 | | Term | Systeemziekte van bindweefsel, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 36383 |
| SNOMED CT to ICD-10 extended map | | Target | I67.8 | | Rule | TRUE | | Advice | ALWAYS I67.8 | 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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