783200000: Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 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 CXCR2 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 CXCR2 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 CXCR2 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 CXCR2 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 CXCR2 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 CXCR2 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 CXCR2 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 CXCR2 deficiency
• \Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
• \Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CXCR2 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 CXCR2 deficiency
• \Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe congenital neutropenia due to CXCR2 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 CXCR2 deficiency
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CXCR2 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 CXCR2 deficiency
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CXCR2 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 CXCR2 deficiency
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3758065018	Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3758066017	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3758067014	Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3758068016	Autosomal recessive severe congenital neutropenia due to CXCR2 (C-X-C motif chemokine receptor 2) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3758069012	A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.	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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