autosomaal recessieve hereditaire aandoening
gecombineerde immunodeficiëntie
hereditair tumorpredispositiesyndroom
lymfoproliferatieve aandoening
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gecombineerde immunodeficiëntie door deficiëntie van interleukine-2-induceerbaar T-celkinase (aandoening)
gecombineerde immunodeficiëntie door ITK-deficiëntie
gecombineerde immunodeficiëntie door deficiëntie van interleukine-2-induceerbaar T-celkinase
autosomaal recessieve lymfoproliferatieve ziekte door ITK-deficiëntie
gecombineerde immuundeficiëntie door deficiëntie van ITK
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.
Id1186714005
StatusPrimitive
Associated morphologylymfoproliferatieve aandoening
Pathological processontregelde gastheerrespons
SNOMED CT to Orphanet simple map538963
SNOMED CT to ICD-10 extended map
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