766879006: Combined immunodeficiency due to OX40 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary cancer-predisposing syndrome\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Disorder of body system\Disorder of immune structure\Combined immunodeficiency due to OX40 deficiency (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Combined immunodeficiency due to OX40 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662993011	Combined immunodeficiency due to OX40 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662994017	Combined immunodeficiency due to OX40 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662996015	Combined immunodeficiency with childhood-onset Kaposi sarcoma	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404690013	Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404691012	Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662993011	Combined immunodeficiency due to OX40 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662994017	Combined immunodeficiency due to OX40 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662996015	Combined immunodeficiency with childhood-onset Kaposi sarcoma	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662997012	A rare combined T and B cell immunodeficiency with characteristics of susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. There is evidence the disease is caused by homozygous mutation in the OX40 gene (TNFRSF4) on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404690013	Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404691012	Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437651001000112	Immundefekt, kombinierter, durch OX40-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
891721000172114	déficit immunitaire combiné par déficit en OX40	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
950841000172117	déficit immunitaire combiné associé à l'HHV-8	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
891721000172114	déficit immunitaire combiné par déficit en OX40	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
950841000172117	déficit immunitaire combiné associé à l'HHV-8	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437651001000112	Immundefekt, kombinierter, durch OX40-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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