763623001: Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 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\...
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \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)\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\...
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643070016	Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643071017	Severe combined immunodeficiency due to CTPS1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3643072012	Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404119012	A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404120018	A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterised by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalised varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643070016	Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643071017	Severe combined immunodeficiency due to CTPS1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3643072012	Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643073019	A rare primary immunodeficiency disorder due to impaired capacity of activated T and B-cells to proliferate in response to antigen receptor-mediated activation. The disease has characteristics of early-onset severe persistent and/or recurrent viral infections due to Epstein-Barr virus and Varicella Zoster virus as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404119012	A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404120018	A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterised by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalised varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451991001000115	Immundefekt, kombinierter schwerer, durch CTPS1-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451991001000115	Immundefekt, kombinierter schwerer, durch CTPS1-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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