722067005: Severe combined immunodeficiency with hypereosinophilia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Increased blood leucocyte number\Granulocyte count above reference range\Eosinophil count raised\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Increased blood leucocyte number\Leucocytosis\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \Measurement finding outside reference range\Measurement finding above reference range\Increased blood leucocyte number\Granulocyte count above reference range\Eosinophil count raised\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \Measurement finding outside reference range\Measurement finding above reference range\Increased blood leucocyte number\Leucocytosis\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \White blood cell number - finding\Eosinophil count - finding\Eosinophil count raised\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \White blood cell number - finding\White blood cell count abnormal\Increased blood leucocyte number\Granulocyte count above reference range\Eosinophil count raised\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \White blood cell number - finding\White blood cell count abnormal\Increased blood leucocyte number\Leucocytosis\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hereditary eosinophilia\Omenn syndrome
• \White blood cell disorder\Disorder of eosinophil\Omenn syndrome
• \White blood cell disorder\Hereditary white blood cell disorder\Hereditary eosinophilia\Omenn syndrome
• \White blood cell disorder\Leucocytosis\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hereditary eosinophilia\Omenn syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell 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 SCID (severe combined immunodeficiency disease)\Omenn syndrome
• \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\Omenn syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Omenn syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Omenn syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Omenn syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Omenn syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Omenn syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Omenn syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Omenn syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Disorder of eosinophil\Omenn syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Leucocytosis\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hereditary eosinophilia\Omenn syndrome
• \Disease\Blood disease\White blood cell disorder\Disorder of eosinophil\Omenn syndrome
• \Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Hereditary eosinophilia\Omenn syndrome
• \Disease\Blood disease\White blood cell disorder\Leucocytosis\Disorder characterised by eosinophilia\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of body system\Disorder of immune structure\Disorder of eosinophil\Omenn syndrome
• \Disease\Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with low T- and B-cell numbers\Omenn syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hereditary eosinophilia\Omenn syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell 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 SCID (severe combined immunodeficiency disease)\Omenn syndrome
• \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\Omenn syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Omenn syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Omenn syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3330458015	Severe combined immunodeficiency with hypereosinophilia	en	Synonym	Active	Case insensitive	SNOMED CT core
3330459011	Omenn syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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