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Blau-syndroom (aandoening)
Blau-syndroom
syndroom van Blau
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Blau syndrome
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.
Id818950005
StatusPrimitive
Associated morphologygranulomateuze ontsteking
Finding sitestructuur van gewricht
Occurrencekinderleeftijd
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD89.8
TermOverige gespecificeerde aandoeningen waarbij immuunsysteem betrokken is, niet elders geclassificeerd
SNOMED CT to Orphanet simple map90340
SNOMED CT to ICD-10 extended map
TargetD89.8
RuleTRUE
AdviceALWAYS D89.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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