| 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 disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with 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. |
| | 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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