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\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \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 recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Finding of white blood cell number\White blood cell count outside reference range\...
• \Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \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 recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor 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 colony stimulating factor 3 receptor deficiency
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor 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 colony stimulating factor 3 receptor deficiency
• \Disease\Disorder of immune function\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \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 recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency

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

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	Only initial character case insensitive	SNOMED CT core module
3758071012	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3758072017	Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3758073010	Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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