722067005: Severe combined immunodeficiency with hypereosinophilia (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\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\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\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 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\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)
\Disease\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency with hypereosinophilia (disorder)
\Disease\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)

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

7327831000172115 SCID met hypereosinofilie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7327841000172110 'severe combined immunodeficiency' met hypereosinofilie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7327851000172112 ernstige gecombineerde immunodeficiëntie met hypereosinofilie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7327861000172114 ernstige gecombineerde immuundeficiëntie met hypereosinofilie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe combined immunodeficiency with hypereosinophilia (disorder)	Is a	Severe combined immunodeficiency with low T- and B-cell numbers	true	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	Is a	Hereditary eosinophilia	true	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	Is a	Autosomal recessive severe combined immunodeficiency disease (disorder)	true	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	Has definitional manifestation	Eosinophil count above reference range (finding)	false	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Severe combined immunodeficiency with hypereosinophilia (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	3
Severe combined immunodeficiency with hypereosinophilia (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Severe combined immunodeficiency with hypereosinophilia (disorder)	Interprets	Eosinophil count	true	Inferred relationship	Some	1
Severe combined immunodeficiency with hypereosinophilia (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Severe combined immunodeficiency with hypereosinophilia (disorder)	Is a	Disorder of eosinophil (disorder)	true	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	Finding site	Eosinophilic granulocytic cell	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
7327831000172115	SCID met hypereosinofilie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7327841000172110	'severe combined immunodeficiency' met hypereosinofilie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7327851000172112	ernstige gecombineerde immunodeficiëntie met hypereosinofilie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7327861000172114	ernstige gecombineerde immuundeficiëntie met hypereosinofilie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)