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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 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.
Id778004006
StatusPrimitive
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
Pathological processauto-immuunproces
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD80.8
RuleTRUE
AdviceALWAYS D80.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified