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

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\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\Decreased blood leucocyte number\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\Neutrophil count abnormal\Neutrophil count below reference range\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 leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\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 leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \White blood cell number - finding\White blood cell count abnormal\...
• \Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \Finding of blood, lymphatics and immune system\Blood disease\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
• \Leucopenia\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\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\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \Disease\Disorder of immune function\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\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \Disease\Blood disease\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\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
3758071012	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3758072017	Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3758073010	Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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