|||||
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
Id778004006
StatusPrimitive
Associated morphologyInflammatory morphology
Finding siteStructure of immune system
Pathological processAbnormal immune process
Pathological processAutoimmune process
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