'high-temperature requirement A serine peptidase 1'-gerelateerde autosomaal dominante 'cerebral small vessel disease' (aandoening) | | HTRA1-gerelateerde autosomaal dominante 'cerebral small vessel disease' | | HTRA1-gerelateerde autosomaal dominante CSVD 'high-temperature requirement A serine peptidase 1'-gerelateerde autosomaal dominante 'cerebral small vessel disease' HTRA1-gerelateerde autosomaal dominante ziekte van kleine hersenvaten 'HtrA serine peptidase 1'-gerelateerde autosomaal dominante 'cerebral small vessel disease'
| | HTRA1-related autosomal dominant cerebral small vessel disease | | HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease HTRA1-related autosomal dominant cerebral angiopathy
| | A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts and sometimes microbleeds. Extra-neurological manifestations are absent. |
| Id | 1186724002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | I67.9 | Term | Cerebrovasculaire ziekte, niet gespecificeerd |
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SNOMED CT to Orphanet simple map | 482077 |
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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