1179300002: ziekte van B-celexpansie met 'nuclear factor kappa-light-chain-enhancer of activated B-cells' en T-celanergie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\BENTA disease
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\BENTA disease

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
13241991000146114	ziekte van B-celexpansie met NF-kB en T-celanergie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242011000146114	ziekte van B-celexpansie met nucleaire factor-kappa-B en T-celanergie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242021000146116	ziekte van B-celexpansie met 'nuclear factor kappa-light-chain-enhancer of activated B-cells' en T-celanergie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244591000146115	ziekte van B-celexpansie met 'nuclear factor kappa-light-chain-enhancer of activated B-cells' en T-celanergie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244601000146113	BENTA-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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