1351613000: Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive.\Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive.\Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive.\Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive.\Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive.\Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive.\Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5408036014	Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408037017	Severe combined immunodeficiency due to BCL11B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408039019	Severe combined immunodeficiency due to BCL11 transcription factor B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408036014	Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408037017	Severe combined immunodeficiency due to BCL11B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408039019	Severe combined immunodeficiency due to BCL11 transcription factor B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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