763623001: Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\...
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CTPS1 deficiency
• \Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to CTPS1 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CTPS1 deficiency
• \Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CTPS1 deficiency
• \Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to CTPS1 deficiency
• \Disorder of immune function\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 CTPS1 deficiency
• \Disorder of immune function\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 CTPS1 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CTPS1 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to CTPS1 deficiency
• \Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to CTPS1 deficiency
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CTPS1 deficiency
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to CTPS1 deficiency
• \Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\...
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CTPS1 deficiency
• \Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to CTPS1 deficiency

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
3643071017	Severe combined immunodeficiency due to CTPS1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643072012	Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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