247860002: Familial neutropenia (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\...

\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Familial neutropenia (disorder)

\Leucopenia\Neutropenic disorder\Familial neutropenia (disorder)

\Procedure related finding\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Familial neutropenia (disorder)
\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Familial neutropenia (disorder)
\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Familial neutropenia (disorder)
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Familial neutropenia (disorder)
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Familial neutropenia (disorder)
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Familial neutropenia (disorder)
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Familial neutropenia (disorder)

\White blood cell number - finding\White cell count abnormal\...

\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Familial neutropenia (disorder)
\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Familial neutropenia (disorder)

\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Familial neutropenia (disorder)

\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Familial neutropenia (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Familial neutropenia (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Familial neutropenia (disorder)
\Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Familial neutropenia (disorder)
\Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Neutropenic disorder\Familial neutropenia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial neutropenia (disorder)	Is a	Neutropenic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Finding site	Leucocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Has definitional manifestation	Neutropenia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial neutropenia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial neutropenia (disorder)	Interprets	Neutrophil count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial neutropenia (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Periodontitis co-occurrent with familial neutropenia	Is a	False	Familial neutropenia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
370062016	Familial benign neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
370063014	Familial neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
638086015	Familial neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
370062016	Familial benign neutropenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
370062016	Familial benign neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
370063014	Familial neutropenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
370063014	Familial neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
638086015	Familial neutropenia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
638086015	Familial neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5050051000241113	neutropénie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5050051000241113	neutropénie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module