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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643070016	Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643071017	Severe combined immunodeficiency due to CTPS1 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3643072012	Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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