783617001: Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase 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 LCK deficiency
• \Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to LCK deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to LCK 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 LCK 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 LCK 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 LCK 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 LCK 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 LCK 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 LCK deficiency
• \Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to LCK 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 LCK 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 LCK deficiency
• \Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\...
• \Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to LCK deficiency
• \Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency due to LCK deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759517017	Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3759518010	Severe combined immunodeficiency due to LCK (lymphocyte-specific protein-tyrosine kinase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759519019	Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3759520013	Severe combined immunodeficiency due to LCK deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759521012	A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhoea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.	en	Definition	Active	Case sensitive	SNOMED CT core
3759522017	A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.	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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