725290000: gecombineerde immunodeficiëntie door partiële deficiëntie van 'recombination-activating gene 1' (aandoening)

• SNOMED CT Concept\Clinical finding (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 (disorder)\Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)\Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Combined immunodeficiency due to partial recombination-activating gene 1 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
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
6202221000146112	gecombineerde immunodeficiëntie met expansie van gamma-delta-T-cellen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6668601000146118	gecombineerde immunodeficiëntie door partiële deficiëntie van 'recombination-activating gene 1'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6668611000146116	gecombineerde immunodeficiëntie door partiële deficiëntie van 'recombination-activating gene 1' (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6668621000146114	gecombineerde immunodeficiëntie door partiële RAG1-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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