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1186714005: Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4667409013 Combined immunodeficiency due to IL2 inducible T cell kinase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667411016 Combined immunodeficiency due to ITK deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667412011 Autosomal recessive lymphoproliferative disease due to ITK deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667656019 Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667657011 Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5399514012 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 persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399515013 A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, haemophagocytic lymphohistiocytosis, and smooth muscle tumour. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like haemolytic anaemia or renal disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667409013 Combined immunodeficiency due to IL2 inducible T cell kinase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667411016 Combined immunodeficiency due to ITK deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667412011 Autosomal recessive lymphoproliferative disease due to ITK deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667656019 Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667657011 Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667413018 A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, haemophagocytic lymphohistiocytosis and smooth muscle tumour. 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 haemolytic anaemia or renal disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667414012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399514012 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 persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399515013 A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, haemophagocytic lymphohistiocytosis, and smooth muscle tumour. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like haemolytic anaemia or renal disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447371001000112 Immundefekt, kombinierter, durch ITK-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897801000241111 maladie proliférative autosomique récessive due à un déficit en ITK (interleukin-2 inducible T cell kinase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897811000241113 immunodéficience combinée due à un déficit en ITK (interleukin-2 inducible T cell kinase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897821000241118 déficit immunitaire combiné par déficit en ITK (interleukin-2 inducible T cell kinase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897801000241111 maladie proliférative autosomique récessive due à un déficit en ITK (interleukin-2 inducible T cell kinase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897811000241113 immunodéficience combinée due à un déficit en ITK (interleukin-2 inducible T cell kinase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897821000241118 déficit immunitaire combiné par déficit en ITK (interleukin-2 inducible T cell kinase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447371001000112 Immundefekt, kombinierter, durch ITK-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) Is a Lymphoproliferative disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) Is a Combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) Associated morphology Lymphoproliferative disorder true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) Pathological process (attribute) Dysregulated host response (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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