725290000: Combined immunodeficiency due to partial recombination-activating gene 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)\Combined immunodeficiency due to partial RAG1 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Combined immunodeficiency due to partial RAG1 deficiency
• \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 partial RAG1 deficiency
• \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 partial RAG1 deficiency
• \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 partial RAG1 deficiency
• \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 partial RAG1 deficiency
• \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 partial RAG1 deficiency

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
3440779017	Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440780019	Combined immunodeficiency due to partial RAG1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3440781015	Combined immunodeficiency due to partial recombination-activating gene 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440782010	Combined immunodeficiency with expansion of gamma delta T cell	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403443012	Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403444018	Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency characterised by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440779017	Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440780019	Combined immunodeficiency due to partial RAG1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3440781015	Combined immunodeficiency due to partial recombination-activating gene 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440782010	Combined immunodeficiency with expansion of gamma delta T cell	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3440783017	A form of combined T and B cell immunodeficiency with characteristics of severe and persistent cytomegalovirus infection and autoimmune cytopenia. Patients present before the age of one year with severe disseminated cytomegalovirus infection, which can manifest with fever and splenomegaly, and recurrent and severe co-infections including sepsis and pneumonitis. Caused by hypomorphic mutation in the RAG1 gene (11p13). This results in oligoclonal expansion of T cell receptor (TCR) gamma-delta T cells and TCR alpha-beta T cell lymphopenia. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403443012	Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403444018	Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency characterised by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3390841001000111	Immundefekt, kombinierter, durch partiellen RAG1-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855811000241110	immunodéficience combinée due à un déficit partiel en RAG1 (recombination-activating gene 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855821000241115	déficit immunitaire combiné par déficit partiel en RAG1 (recombination-activating gene 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855831000241118	déficience immunitaire due à un déficit partiel en RAG1 (recombination-activating gene 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855811000241110	immunodéficience combinée due à un déficit partiel en RAG1 (recombination-activating gene 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855821000241115	déficit immunitaire combiné par déficit partiel en RAG1 (recombination-activating gene 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855831000241118	déficience immunitaire due à un déficit partiel en RAG1 (recombination-activating gene 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3390841001000111	Immundefekt, kombinierter, durch partiellen RAG1-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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