| syndroom van auto-inflammatie, fosfolipase-C-gamma-2-geassocieerde antilichaamdeficiëntie en immuundisregulatie (aandoening) | | syndroom van auto-inflammatie, fosfolipase-C-gamma-2-geassocieerde antilichaamdeficiëntie en immuundisregulatie | | APLAID
syndroom van auto-inflammatie, PLCG2-geassocieerde antilichaamdeficiëntie 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 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. |
| | Id | 778004006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D80.8 | | Term | Overige gespecificeerde immunodeficiënties met overwegend antilichaamstoornissen |
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| SNOMED CT to Orphanet simple map | 324530 |
| SNOMED CT to ICD-10 extended map | | 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 |
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