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syndroom van auto-immune interstitiële longziekte en artritis door mutatie in COPA-gen (aandoening)
syndroom van auto-immune interstitiële longziekte en artritis door mutatie in COPA-gen
COPA-syndroom
Autoimmune interstitial lung disease, arthritis syndrome
COPA (coatomer protein complex subunit alpha) syndrome
A rare genetic systemic or rheumatologic disease with characteristics of interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.
Id1222679006
StatusPrimitive
Has interpretationpositief
InterpretsRheumatoid factor measurement
Associated morphologyinflammatoire morfologie
Finding sitestructuur van gewricht
Pathological processauto-immuunproces
ICD-10 complex map reference set
TargetJ84.8
RuleTRUE
AdviceALWAYS J84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified