Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | | 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 mixed autoinflammatory and autoimmune syndrome disorder with characteristics of 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. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q. | | syndroom van auto-inflammatie, fosfolipase-C-gamma-2-geassocieerde antilichaamdeficiƫntie en immuundisregulatie | | APLAID syndroom van auto-inflammatie, PLCG2-geassocieerde antilichaamdeficiƫntie en immuundisregulatie
|
| Id | 778004006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | D80.8 | Rule | TRUE | Advice | ALWAYS D80.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|