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syndroom van periodieke koorts, infantiele enterocolitis en auto-inflammatie (aandoening)
syndroom van periodieke koorts, infantiele enterocolitis en auto-inflammatie
NLRC4-gerelateerd MAS
NLRC4-gerelateerd auto-inflammatoir syndroom met macrofaagactivatiesyndroom
syndroom van auto-inflammatie, intermitterende koorts en infantiele enterocolitis
NLRC4-gerelateerd macrofaagactivatiesyndroom
Periodic fever, infantile enterocolitis, autoinflammatory syndrome
NLRC4-related infantile enterocolitis, autoinflammatory syndrome
NLRC4-related macrophage activation syndrome
NLRC4-related autoinflammatory syndrome with macrophage activation syndrome
A rare genetic systemic or rheumatologic disease with characteristics of neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure and death.
Id1197594000
StatusPrimitive
Clinical courserecidiverend
Associated withkoorts
Associated morphologyinflammatoire morfologie
Finding sitestructuur van colon
Occurrencezuigelingenperiode
Has interpretationboven referentiebereik
Interpretslichaamstemperatuur
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map436166
SNOMED CT to ICD-10 extended map
TargetE85.0
RuleTRUE
AdviceALWAYS E85.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified