1162830004: X-linked lymphoproliferative disease due to XIAP deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of immune system\X-linked lymphoproliferative syndrome\X-linked lymphoproliferative disease due to XIAP deficiency
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked lymphoproliferative syndrome\X-linked lymphoproliferative disease due to XIAP deficiency
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\X-linked lymphoproliferative syndrome\X-linked lymphoproliferative disease due to XIAP deficiency
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\X-linked lymphoproliferative syndrome\X-linked lymphoproliferative disease due to XIAP deficiency
• \Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Atypical lymphoproliferative disorder\X-linked lymphoproliferative syndrome\X-linked lymphoproliferative disease due to XIAP deficiency
• \Disorder of body system\Disorder of immune structure (disorder)\X-linked lymphoproliferative syndrome\X-linked lymphoproliferative disease due to XIAP deficiency
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\X-linked lymphoproliferative syndrome\X-linked lymphoproliferative disease due to XIAP deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4591671016	X-linked lymphoproliferative syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591672011	X-linked lymphoproliferative disease due to XIAP deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591673018	XIAP deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591675013	X-linked lymphoproliferative disease due to XIAP deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399276016	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. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399277013	A rare, genetic, primary immunodeficiency disorder characterised 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 haemophagocytic lymphohistiocytosis, hypogammaglobulinaemia, 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. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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