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interleukine-21-gerelateerde infantiele inflammatoire darmziekte (aandoening)
interleukine-21-gerelateerde infantiele inflammatoire darmziekte
IL21-gerelateerde infantiele 'inflammatory bowel disease'
IL21-gerelateerde infantiele IBD
IL21-related infantile inflammatory bowel disease
Interleukin 21 related infantile inflammatory bowel disease
A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.
Id1173999006
StatusPrimitive
Associated morphologyinflammatoire morfologie
Occurrencezuigelingenperiode
Pathological processontregelde gastheerrespons
SNOMED CT to Orphanet simple map477661
SNOMED CT to ICD-10 extended map
TargetD82.8
RuleTRUE
AdviceALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified