| 'CCAAT enhancer binding protein epsilon'-geassocieerd syndroom van autoinflammatie, immunodeficiëntie en disfunctie van neutrofielen (aandoening) | | CEBPE-geassocieerd syndroom van autoinflammatie, immunodeficiëntie en disfunctie van neutrofielen | | 'CCAAT enhancer binding protein epsilon'-geassocieerd syndroom van autoinflammatie, immuundeficiëntie en disfunctie van neutrofielen
'CCAAT enhancer binding protein epsilon'-geassocieerd syndroom van autoinflammatie, immunodeficiëntie en disfunctie van neutrofielen
| | CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome | | CAIN (CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
| | A rare genetic syndrome with a combination of autoinflammation, immunodeficiency and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present with recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections and purulent upper respiratory tract infections have also been reported. |
| | Id | 1186720006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 566067 |
| SNOMED CT to ICD-10 extended map | | Target | D89.8 | | Rule | TRUE | | Advice | ALWAYS D89.8 | 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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