1351211006: Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3-ZETA mutation (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.\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \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.\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \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.\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \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.\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \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.\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \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.\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5405845010	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3-ZETA mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5405846011	Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5405847019	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3-ZETA mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5405848012	Autosomal recessive T-B+ SCID (T-cell negative, B-cell positive severe combined immunodeficiency) due to CD3-ZETA mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5405845010	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3-ZETA mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5405846011	Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5405847019	Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3-ZETA mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5405848012	Autosomal recessive T-B+ SCID (T-cell negative, B-cell positive severe combined immunodeficiency) due to CD3-ZETA mutation	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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