1179300002: B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4650635017	BENTA disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650639011	B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650640013	BENTA (B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy) disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650641012	B-cell expansion with NF-kB and T-cell anergy disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650642017	B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399492012	A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399493019	A rare primary immunodeficiency characterised by infantile onset of generalised lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650635017	BENTA disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650639011	B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650640013	BENTA (B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy) disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650641012	B-cell expansion with NF-kB and T-cell anergy disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650642017	B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650637013	A rare primary immunodeficiency characterised by infantile onset of generalised lymphadenopathy, splenomegaly and lymphocytosis with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650638015	A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly and lymphocytosis with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399492012	A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399493019	A rare primary immunodeficiency characterised by infantile onset of generalised lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3384871001000113	BENTA-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751911000241118	malade de l'expansion des lymphocytes B associée à NF-kappaB (nuclear factor kappa light chain enhancer of activated B cells) et anergie des lymphocytes T	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751921000241113	maladie de l'expansion lymphocytaire B associée au facteur nucléaire d'amplificateur à chaine légère kappa des lymphocytes B activé et anergie des lymphocytes T	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751931000241110	maladie BENTA (B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751911000241118	malade de l'expansion des lymphocytes B associée à NF-kappaB (nuclear factor kappa light chain enhancer of activated B cells) et anergie des lymphocytes T	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751921000241113	maladie de l'expansion lymphocytaire B associée au facteur nucléaire d'amplificateur à chaine légère kappa des lymphocytes B activé et anergie des lymphocytes T	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751931000241110	maladie BENTA (B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384871001000113	BENTA-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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