Autosomal recessive hereditary disorder
Combined immunodeficiency disease
Hereditary cancer-predisposing syndrome
Lymphoproliferative disorder
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Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder)
Combined immunodeficiency due to ITK deficiency
Combined immunodeficiency due to IL2 inducible T cell kinase deficiency
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency
Autosomal recessive lymphoproliferative disease due to ITK deficiency
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis and smooth muscle tumor. Patients present with persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathy and hepatosplenomegaly accompanied by a high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.
gecombineerde immunodeficiëntie door ITK-deficiëntie
gecombineerde immuundeficiëntie door deficiëntie van ITK
gecombineerde immunodeficiëntie door deficiëntie van interleukine-2-induceerbaar T-celkinase
autosomaal recessieve lymfoproliferatieve ziekte door ITK-deficiëntie
Id1186714005
StatusPrimitive
Associated morphologyLymphoproliferative disorder
Pathological processDysregulated host response
ICD-10 complex map reference set
TargetD82.3
RuleTRUE
AdviceALWAYS D82.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified