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syndroom van inflammatoire darmziekte en recidiverende sinopulmonale infectie (aandoening)
syndroom van inflammatoire darmziekte en recidiverende sinopulmonale infectie
syndroom van IBD en recidiverende sinopulmonaire infectie
haplo-insufficiƫntie van NFAT5
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome
NFAT5 haploinsufficiency
NFAT5 (nuclear factor of activated T cells 5) haploinsufficiency
A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes and decreased numbers of natural killer cells.
Id1186652002
StatusPrimitive
Clinical courserecidiverend
Associated morphologyinflammatoire morfologie
Finding sitestructuur van intestinum
Pathological processauto-immuunproces
ICD-10 complex map reference set
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified