1197361002: Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary neoplastic syndrome\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Autosomal hereditary disorder\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Disorder of immune function\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Disorder of immune function\Autoimmune disease\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Disorder of haematopoietic morphology\Lymphoproliferative disorder\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Disorder of body system\Disorder of immune structure\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Disorder of body system\Disorder of haematopoietic structure\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome\Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696009019	CTLA-4 haploinsufficiency with autoimmune infiltration disease	en	Synonym	Active	Case sensitive	SNOMED CT core
4696010012	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4696011011	Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4696012016	Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4696013014	A rare primary immunodeficiency characterised by variable combination of enteropathy, hypogammaglobulinaemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune haemolytic anaemia and lymphadenopathy.	en	Definition	Active	Case sensitive	SNOMED CT core
4696014015	A rare primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.	en	Definition	Active	Case sensitive	SNOMED CT core

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