771309000: Autosomal recessive lymphoproliferative disease (disorder)

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

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
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	Active	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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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

Expanded Value Set

This concept is not in any reference sets

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