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Sporadic Blau syndrome (disorder)
Sporadic Blau syndrome
Early onset sarcoidosis
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease 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.
Id726078000
StatusPrimitive
Associated morphologygranulomateuze ontsteking
Finding sitestructuur van gewricht
Occurrencekinderleeftijd
Pathological processafwijkend immuunproces
Associated morphologyinflammatoire morfologie
Finding sitestructuur van huid
Occurrencekinderleeftijd
Pathological processafwijkend immuunproces
Associated morphologyinflammatoire morfologie
Finding sitestructuur van uvea
Occurrencekinderleeftijd
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD86.8
RuleTRUE
AdviceALWAYS D86.8
CorrelationSNOMED CT source code to target map code correlation not specified