724276006: X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...

\Finding of small intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)

\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of small intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of small intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune endocrine disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Autoimmune endocrine disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital immunodeficiency disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3433490013 X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3433491012 X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3433492017 Autoimmune enteropathy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3433493010 A severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3433494016 A severe congenital systemic autoimmune disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3984591000052111 X-bundet syndrom med störning i immunförsvaret, polyendokrinopati och sjukdom i tarm sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Associated with	Chromosomal disorder (disorder)	true	Inferred relationship	Some	3
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	Autoimmune enteropathy	true	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	Autoimmune endocrine disease	true	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Finding site	Structure of small intestine (body structure)	true	Inferred relationship	Some	5
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	5
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3433490013	X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433491012	X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433492017	Autoimmune enteropathy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433493010	A severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433494016	A severe congenital systemic autoimmune disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3984591000052111	X-bundet syndrom med störning i immunförsvaret, polyendokrinopati och sjukdom i tarm	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)