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\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

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

9987981000172115 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) Belgian module (core metadata concept)

9987991000172117 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) Belgian module (core metadata concept)

9988001000172112 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) Belgian module (core metadata concept)

7379131000172117 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) Belgian module (core metadata concept)

7379141000172112 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) Belgian module (core metadata concept)

7379151000172114 ziekte van B-celexpansie met NF-kB en T-celanergie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7379161000172111 BENTA-ziekte nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
BENTA disease	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
BENTA disease	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
BENTA disease	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
9987981000172115	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)	Belgian module (core metadata concept)
9987991000172117	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)	Belgian module (core metadata concept)
9988001000172112	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)	Belgian module (core metadata concept)
7379131000172117	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)	Belgian module (core metadata concept)
7379141000172112	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)	Belgian module (core metadata concept)
7379151000172114	ziekte van B-celexpansie met NF-kB en T-celanergie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7379161000172111	BENTA-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)