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gecombineerde immunodeficiëntie door deficiëntie van interleukine-21-receptor (aandoening)
gecombineerde immunodeficiëntie door deficiëntie van interleukine-21-receptor
gecombineerde immunodeficiëntie door IL21R-deficiëntie
Combined immunodeficiency due to interleukin 21 receptor deficiency
Combined immunodeficiency due to IL21R deficiency
A rare genetic non-severe combined immunodeficiency disorder with characteristics of variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency. The disease manifests with recurrent respiratory and/or gastrointestinal tract infections and in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.
Id784340000
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified