718107000: Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 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.\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \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.\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \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.\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \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)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \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.\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \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.\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \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.\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311199017	T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311208014	Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311209018	Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401677017	Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401678010	Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterised by severe and recurrent infections, associated with diarrhoea and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311199017	T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311208014	Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311209018	Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311200019	A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhea and failure to thrive. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311201015	A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease is characterised by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401677017	Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401678010	Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterised by severe and recurrent infections, associated with diarrhoea and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3418791001000116	Immundefekt, kombinierter schwerer, T- B+ infolge JAK3-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6499551000241110	déficit immunitaire combiné sévère T-B+ par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6499571000241117	immunodéficience combinée sévère avec absence de lymphocytes T et présence de lymphocytes B par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6499581000241115	DICS (déficit immunitaire combiné sévère) T-B+ par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6499551000241110	déficit immunitaire combiné sévère T-B+ par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6499571000241117	immunodéficience combinée sévère avec absence de lymphocytes T et présence de lymphocytes B par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6499581000241115	DICS (déficit immunitaire combiné sévère) T-B+ par déficit en JAK3 (janus kinase-3)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418791001000116	Immundefekt, kombinierter schwerer, T- B+ infolge JAK3-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

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