766879006: gecombineerde immunodeficiëntie door OX40-deficiëntie (aandoening)

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

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
6201861000146113	gecombineerde immuundeficiëntie door OX40-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6201871000146119	gecombineerde immunodeficiëntie met in kindertijd optredend Kaposi-sarcoom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6201881000146117	gecombineerde immuundeficiëntie met verstoorde immuniteit tegen HHV-8	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6201901000146119	gecombineerde immuundeficiëntie met verstoorde immuniteit tegen humaan herpesvirus 8	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7068971000146110	gecombineerde immunodeficiëntie door OX40-deficiëntie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069641000146119	gecombineerde immunodeficiëntie door OX40-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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