783201001: Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)

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

\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leukocyte number (finding)\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number (finding)\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

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

\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Decreased blood leukocyte number (finding)\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\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\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
\Disease\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3758070013 Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3758071012 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3758072017 Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3758073010 Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3758074016 A rare genetic primary immunodeficiency disorder with characteristics of predisposition to recurrent life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4355541000052119 autosomalt recessiv svår medfödd neutropeni orsakad av CSF3R-brist sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Interprets	Neutrophil count	true	Inferred relationship	Some	1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Is a	Congenital neutropenia	true	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3758070013	Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758071012	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758072017	Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758073010	Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758074016	A rare genetic primary immunodeficiency disorder with characteristics of predisposition to recurrent life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4355541000052119	autosomalt recessiv svår medfödd neutropeni orsakad av CSF3R-brist	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)