771309000: Autosomal recessive lymphoproliferative disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary cancer-predisposing syndrome\Autosomal recessive lymphoproliferative disease (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive lymphoproliferative disease (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Autosomal recessive lymphoproliferative disease (disorder)
• \Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Autosomal recessive lymphoproliferative disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705582017	Autosomal recessive lymphoproliferative disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705584016	Autosomal recessive lymphoproliferative disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705585015	A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterised by persistent symptomatic Epstein-Barr viraemia and hypogammaglobulinaemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, haemophagocytic lymphohistiocytosis, and aplastic anaemia.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705586019	A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic Epstein-Barr viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405089011	A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405090019	A rare autosomal recessive primary immunodeficiency characterised by Epstein-Barr virus (EBV)-triggered lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven haemophagocytic lymphohistiocytosis (HLH). Aplastic anaemia and inflammatory disorders such as uveitis and oral ulcers are also observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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