| cathepsine A-gerelateerde arteriopathie met cerebrovasculaire accidenten en leukencefalopathie (aandoening) | | cathepsine A-gerelateerde arteriopathie met cerebrovasculaire accidenten en leukencefalopathie | | CARASAL
cathepsine A-gerelateerde arteriopathie met CVA's en leuko-encefalopathie
| | Cathepsin A-related arteriopathy, strokes, leukoencephalopathy | | CARASAL - cathepsin A-related arteriopathy, strokes, leukoencephalopathy
| | A rare genetic cerebral small vessel disease with characteristics of adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. |
| | Id | 1197429000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G93.4 | | Term | Encefalopathie, niet gespecificeerd |
| Target | I67.9 | | Term | Cerebrovasculaire ziekte, niet gespecificeerd |
|
| SNOMED CT to Orphanet simple map | 575553 |
| 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 |
|
|
