722067005: ernstige gecombineerde immunodeficiëntie met hypereosinofilie (aandoening)

• 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\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \White blood cell disorder\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \White blood cell disorder\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Measurement finding outside reference range\Measurement finding above reference range\Number of cells 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\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Measurement finding outside reference range\Measurement finding above reference range\Number of cells above reference range\Blood leukocyte number above reference range\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \White blood cell number - finding\Eosinophil count - finding\Eosinophil count above reference range (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of body system\Hematological disorder (disorder)\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \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)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)

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	Active	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
6260201000146116	ernstige gecombineerde immuundeficiëntie met hypereosinofilie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6260211000146119	ernstige gecombineerde immunodeficiëntie met hypereosinofilie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6260221000146112	Omenn-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6260231000146114	syndroom van Omenn	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6260241000146118	SCID met hypereosinofilie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6260261000146117	'severe combined immunodeficiency' met hypereosinofilie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6887601000146110	ernstige gecombineerde immunodeficiëntie met hypereosinofilie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Active	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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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