722067005: Omenn syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \White blood cell disorder\Disorder of eosinophil (disorder)\Omenn syndrome
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \White blood cell disorder\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Procedure related 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 above reference range\Granulocyte count above reference range (finding)\Eosinophil count above reference range (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number above reference range\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Measurement finding outside reference range\Measurement finding above reference range\Blood leukocyte number above reference range\Granulocyte count above reference range (finding)\Eosinophil count above reference range (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Measurement finding outside reference range\Measurement finding above reference range\Blood leukocyte number above reference range\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \White blood cell number - finding\Eosinophil count - finding\Eosinophil count above reference range (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \White blood cell number - finding\White blood cell count outside reference range\Blood leukocyte number above reference range\Granulocyte count above reference range (finding)\Eosinophil count above reference range (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \White blood cell number - finding\White blood cell count outside reference range\Blood leukocyte number above reference range\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Omenn syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)\Omenn syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Omenn syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Omenn syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Omenn syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of eosinophil (disorder)\Omenn syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Omenn syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of eosinophil (disorder)\Omenn syndrome
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Disorder of eosinophil (disorder)\Omenn syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Omenn syndrome
• \Disease\Inflammatory disorder\Omenn syndrome

Status: current, Not 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
3330457013	Severe combined immunodeficiency with hypereosinophilia (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330458015	Severe combined immunodeficiency with hypereosinophilia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330459011	Omenn syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5459313012	Omenn syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3327880018	An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy and hepatosplenomegaly associated with severe combined immunodeficiency. The signs and symptoms can evolve over time and may not appear simultaneously. Some patients present with some but not all of these symptoms and may be described as having atypical Omenn syndrome. The syndrome is not caused by a defined genetic defect. The majority of cases reported to date have hypomorphic mutations in RAG1 and RAG2 genes (11p13). Transmission is autosomal recessive.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3327881019	An inflammatory condition characterised by erythroderma, desquamation, alopecia, chronic diarrhoea, failure to thrive, lymphadenopathy and hepatosplenomegaly associated with severe combined immunodeficiency. The signs and symptoms can evolve over time and may not appear simultaneously. Some patients present with some but not all of these symptoms and may be described as having atypical Omenn syndrome. The syndrome is not caused by a defined genetic defect. The majority of cases reported to date have hypomorphic mutations in RAG1 and RAG2 genes (11p13). Transmission is autosomal recessive.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402817013	Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402818015	Omenn syndrome (OS) is an inflammatory condition characterised by erythroderma, desquamation, alopecia, chronic diarrhoea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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