770947009: Autosomal dominant severe congenital neutropenia (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 dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \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 dominant severe congenital neutropaenia
• \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 dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \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 dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \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 dominant severe congenital neutropaenia
• \Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \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 dominant severe congenital neutropaenia
• \Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\Genetic disease\Hereditary disease\Hereditary neoplastic 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\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\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \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 dominant severe congenital neutropaenia
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\Blood disease\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\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703563012	Autosomal dominant severe congenital neutropaenia	en	Synonym	Active	Case insensitive	SNOMED CT core
3703564018	Autosomal dominant severe congenital neutropenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3703565017	Autosomal dominant severe congenital neutropenia	en	Synonym	Active	Case insensitive	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	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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