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X-gebonden lymfoproliferatieve aandoening door XIAP-deficiëntie (aandoening)
X-gebonden lymfoproliferatieve aandoening door XIAP-deficiëntie
XIAP-deficiëntiesyndroom
X-gebonden lymfoproliferatieve ziekte door XIAP-deficiëntie
X-gebonden lymfoproliferatief syndroom type 2
XLP2
X-linked lymphoproliferative disease due to XIAP deficiency
XIAP deficiency syndrome
X-linked lymphoproliferative syndrome type 2
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed.
Id1162830004
StatusPrimitive
Associated morphologylymfoproliferatieve aandoening
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD82.3
TermImmunodeficiëntie na hereditair gestoorde respons op Epstein-Barr-virus
SNOMED CT to Orphanet simple map538934
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