770947009: Autosomal dominant severe congenital neutropenia (disorder)

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

\Finding of blood, lymphatics and immune system\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 dominant severe congenital neutropaenia

\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia

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

\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia

\White blood cell number - finding\White blood cell count outside reference range\...

\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia

\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Autosomal dominant severe congenital neutropaenia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant severe congenital 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\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\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 dominant severe congenital neutropaenia
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\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 dominant severe congenital neutropaenia
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
\Disease\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia

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

Descriptions:

Id Description Lang Type Status Case? Module

3703563012 Autosomal dominant severe congenital neutropaenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3703564018 Autosomal dominant severe congenital neutropenia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3703565017 Autosomal dominant severe congenital neutropenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3703566016 A rare primary immunodeficiency disorder with characteristics of autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset severe recurrent bacterial infections. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

990311000172115 neutropénie congénitale sévère autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

946801000172118 autosomaal dominante ernstige congenitale neutropenie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant severe congenital neutropaenia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant severe congenital neutropaenia	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant severe congenital neutropaenia	Is a	Congenital neutropenia	true	Inferred relationship	Some
Autosomal dominant severe congenital neutropaenia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Autosomal dominant severe congenital neutropaenia	Interprets	Neutrophil count	true	Inferred relationship	Some	1
Autosomal dominant severe congenital neutropaenia	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Autosomal dominant severe congenital neutropaenia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

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
3703563012	Autosomal dominant severe congenital neutropaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703564018	Autosomal dominant severe congenital neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703565017	Autosomal dominant severe congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703566016	A rare primary immunodeficiency disorder with characteristics of autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset severe recurrent bacterial infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
990311000172115	neutropénie congénitale sévère autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
946801000172118	autosomaal dominante ernstige congenitale neutropenie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)