725135004: Combined immunodeficiency due to CD3gamma 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)\Combined immunodeficiency due to CD3gamma deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Combined immunodeficiency due to CD3gamma deficiency (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Combined immunodeficiency due to CD3gamma 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)\Combined immunodeficiency due to CD3gamma deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Combined immunodeficiency due to CD3gamma deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Combined immunodeficiency due to CD3gamma 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)\Combined immunodeficiency due to CD3gamma deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3439257019	Combined immunodeficiency due to CD3gamma deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3439258012	Combined immunodeficiency due to CD3gamma deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3439259016	Combined immunodeficiency due to CD3-gamma deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403403019	A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403404013	A rare autosomal recessive primary immunodeficiency characterised by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439257019	Combined immunodeficiency due to CD3gamma deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3439258012	Combined immunodeficiency due to CD3gamma deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3439259016	Combined immunodeficiency due to CD3-gamma deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3439260014	An extremely rare genetic combined primary immunodeficiency with characteristics of selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant auto-immune manifestations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403403019	A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403404013	A rare autosomal recessive primary immunodeficiency characterised by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446911001000116	Immundefekt, kombinierter, durch CD3-gamma-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
923951000172117	déficit immunitaire combiné par déficit en CD3gamma	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
923951000172117	déficit immunitaire combiné par déficit en CD3gamma	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446911001000116	Immundefekt, kombinierter, durch CD3-gamma-Mangel	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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