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\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 cell count abnormal\Decreased blood leukocyte number\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 cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital 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\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital 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\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \White blood cell number - finding\White cell count abnormal\...
• \Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Neutrophil count abnormal\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 foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital 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\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Neutropenic disorder\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
5404980015	A rare primary immunodeficiency disorder characterized by 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
5404981016	A rare primary immunodeficiency disorder characterised by 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
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
5404980015	A rare primary immunodeficiency disorder characterized by 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
5404981016	A rare primary immunodeficiency disorder characterised by 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
3438941001000117	Neutropenie, kongenitale schwere, autosomal-dominante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990311000172115	neutropénie congénitale sévère autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990311000172115	neutropénie congénitale sévère autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438941001000117	Neutropenie, kongenitale schwere, autosomal-dominante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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