syndroom van auto-inflammatie, fosfolipase-C-gamma-2-geassocieerde antilichaamdeficiƫntie en immuundisregulatie (aandoening) | | syndroom van auto-inflammatie, fosfolipase-C-gamma-2-geassocieerde antilichaamdeficiƫntie en immuundisregulatie | | APLAID syndroom van auto-inflammatie, PLCG2-geassocieerde antilichaamdeficiƫntie en immuundisregulatie
| | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | | Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation APLAID - autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
| | A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. |
| Id | 778004006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 324530 |
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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