722067005: Severe combined immunodeficiency with hypereosinophilia (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Increased blood leukocyte number (finding)\Granulocyte count above reference range (finding)\Eosinophil count raised (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Increased blood leukocyte number (finding)\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Measurement finding outside reference range\Measurement finding above reference range\Increased blood leukocyte number (finding)\Granulocyte count above reference range (finding)\Eosinophil count raised (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Measurement finding outside reference range\Measurement finding above reference range\Increased blood leukocyte number (finding)\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \White blood cell number - finding\Eosinophil count - finding\Eosinophil count raised (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \White blood cell number - finding\White blood cell count abnormal (finding)\Increased blood leukocyte number (finding)\Granulocyte count above reference range (finding)\Eosinophil count raised (finding)\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \White blood cell number - finding\White blood cell count abnormal (finding)\Increased blood leukocyte number (finding)\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \anomalie de la lignée blanche\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \anomalie de la lignée blanche\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\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\maladie héréditaire\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\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\trouble de la fonction immunitaire\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\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (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\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Leukocytosis\Disorder characterized by eosinophilia (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\affection d'un système corporel\Disorder of immune structure (disorder)\Disorder of eosinophil (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\affection d'un système corporel\Disorder of immune structure (disorder)\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary eosinophilia\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\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\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\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
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

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

US English

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