725290000: Combined immunodeficiency due to partial recombination-activating gene 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 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\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\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\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 body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Combined immunodeficiency due to partial RAG1 deficiency
• \Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Combined immunodeficiency due to partial RAG1 deficiency

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3440780019	Combined immunodeficiency due to partial RAG1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3440781015	Combined immunodeficiency due to partial recombination-activating gene 1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3440782010	Combined immunodeficiency with expansion of gamma delta T cell	en	Synonym	Active	Initial character case insensitive	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	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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