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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 characterized by 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 interpretationaangetoond
InterpretsRheumatoid factor measurement
Associated morphologyinflammatoire morfologie
Finding sitestructuur van gewricht
Pathological processauto-immuunproces
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processauto-immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetJ84.8
TermOverige gespecificeerde interstitiële longziekten
SNOMED CT to Orphanet simple map444092
SNOMED CT to ICD-10 extended map
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