718882006: X-linked 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\X-linked severe congenital neutropenia
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \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\X-linked severe congenital neutropenia
• \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\X-linked severe congenital neutropenia
• \Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \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\X-linked severe congenital neutropenia
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \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\X-linked severe congenital neutropenia
• \Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \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\X-linked severe congenital neutropenia
• \Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\X-linked severe congenital neutropenia
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked severe congenital neutropenia
• \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\X-linked severe congenital neutropenia
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\X-linked severe congenital neutropenia
• \Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\X-linked severe congenital neutropenia

Status: current, Defined. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314296017	X-linked severe congenital neutropenia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314297014	X-linked severe congenital neutropenia	en	Synonym	Active	Case sensitive	SNOMED CT core
3314318018	This syndrome is an immunodeficiency syndrome with characteristics of recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.	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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