718882006: X-linked severe congenital neutropenia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\X-linked severe congenital neutropenia (disorder)
• \Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \White blood cell number - finding\White cell count abnormal\...
• \Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\X-linked severe congenital neutropenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked severe congenital neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\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 (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)
• \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\X-linked severe congenital neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked severe congenital neutropenia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314297014	X-linked severe congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401893011	X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401894017	X-linked severe congenital neutropenia is an immunodeficiency syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314296017	X-linked severe congenital neutropenia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314297014	X-linked severe congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401893011	X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401894017	X-linked severe congenital neutropenia is an immunodeficiency syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3396981001000110	Neutropenie, kongenitale schwere, X-chromosomale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002561000172117	neutropénie sévère congénitale liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002561000172117	neutropénie sévère congénitale liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396981001000110	Neutropenie, kongenitale schwere, X-chromosomale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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Component annotation with string value reference set (foundation metadata concept)

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