723443003: Neutrophil immunodeficiency syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)\Neutrophil immunodeficiency syndrome

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
3424634010	Neutrophil immunodeficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424635011	Neutrophil immunodeficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403061010	Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403062015	Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterised by neutrophilia with severe neutrophil dysfunction, leucocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424634010	Neutrophil immunodeficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424635011	Neutrophil immunodeficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424643018	A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424644012	A primary immunodeficiency characterised by neutrophilia with severe neutrophil dysfunction, leucocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signalling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403061010	Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403062015	Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterised by neutrophilia with severe neutrophil dysfunction, leucocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3397321001000113	Neutrophiles Immundefekt-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940701000172114	syndrome d'immunodéficience neutrophile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940701000172114	syndrome d'immunodéficience neutrophile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3397321001000113	Neutrophiles Immundefekt-Syndrom	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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