402794002: Heritable disorder of neutrophil function (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)
\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)
\White blood cell disorder\Disorder of neutrophils (disorder)\Heritable disorder of neutrophil function (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of neutrophils (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Heritable disorder of neutrophil function (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heritable disorder of neutrophil function (disorder)	Is a	Disorder of neutrophils (disorder)	true	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Finding site	Leukocyte	false	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Associated morphology	White blood cell abnormality	false	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Is a	Qualitative abnormality of granulocyte	true	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	1
Heritable disorder of neutrophil function (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Jung syndrome (disorder)	Is a	True	Heritable disorder of neutrophil function (disorder)	Inferred relationship	Some
Siccardi syndrome (disorder)	Is a	True	Heritable disorder of neutrophil function (disorder)	Inferred relationship	Some
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	Is a	True	Heritable disorder of neutrophil function (disorder)	Inferred relationship	Some
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.	Is a	True	Heritable disorder of neutrophil function (disorder)	Inferred relationship	Some
A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.	Is a	True	Heritable disorder of neutrophil function (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1770718019	Heritable disorder of neutrophil function (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1781886016	Heritable disorder of neutrophil function	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6235911000241111	trouble héréditaire de la fonction des neutrophiles	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6244581000241111	trouble héréditaire de la fonction neutrophilique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2361861000195117	Vererbbare Störung der Neutrophilenfunktion	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module