234576008: Chronic 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\Chronic familial neutropaenia

\Leucopenia\Neutropenic disorder\Chronic familial neutropaenia

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

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

\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Chronic familial neutropaenia
\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Chronic familial neutropaenia

\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Chronic familial neutropaenia

\Disease\Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\Chronic familial neutropaenia
\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\Chronic familial neutropaenia
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Chronic familial neutropaenia
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Chronic familial neutropaenia
\Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Chronic familial neutropaenia
\Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Neutropenic disorder\Chronic familial neutropaenia
\Disease\Familial disease\Chronic familial neutropaenia
\Disease\Chronic disease\Chronic disease of immune function (disorder)\Chronic familial neutropaenia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chronic familial neutropaenia	Is a	Disorder of phagocytic cell number	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Is a	Neutropenic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Is a	Familial disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Is a	Chronic disease of immune function (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Has definitional manifestation	Neutropenia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Course	Chronic (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Clinical course	Chronic (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Chronic familial neutropaenia	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Chronic familial neutropaenia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chronic familial neutropaenia	Interprets	Neutrophil count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chronic familial neutropaenia	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 associated with chronic familial neutropenia	Associated with	False	Chronic familial neutropaenia	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
351470013	Chronic familial neutropaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
351471012	Benign familial neutropaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2528818011	Chronic familial neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2535946018	Benign familial neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2771800019	Chronic familial neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
351469012	Chronic idiopathic neutropenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
351470013	Chronic familial neutropaenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
351470013	Chronic familial neutropaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
351471012	Benign familial neutropaenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
351471012	Benign familial neutropaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622915012	Chronic familial neutropaenia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2528818011	Chronic familial neutropenia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2528818011	Chronic familial neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2535946018	Benign familial neutropenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2535946018	Benign familial neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2771800019	Chronic familial neutropenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2771800019	Chronic familial neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80311000077118	neutropénie idiopathique chronique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
80311000077118	neutropénie idiopathique chronique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module