| syndroom van livedo reticularis en cerebrovasculair accident (aandoening) | | syndroom van livedo reticularis en cerebrovasculair accident | | syndroom van Sneddon
syndroom van livedo racemosa en CVA
Sneddon-syndroom
| | Sneddon syndrome | | Ehrmann Sneddon syndrome
Livedo racemosa and cerebrovascular accident
Livedo reticularis and cerebrovascular accident syndrome
| | A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported. |
| | Id | 716745004 | | Status | Primitive |
| PALGA thesaurus simple reference set for pathology |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 820 |
| SNOMED CT to ICD-10 extended map | | Target | I77.8 | | Rule | TRUE | | Advice | ALWAYS I77.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | R23.1 | | Rule | TRUE | | Advice | ALWAYS R23.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
