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

SNOMED CT Concept\Clinical finding\...

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

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

\Intestinal disease\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome

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

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

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

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3433491012 X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome en Synonym Active Case sensitive SNOMED CT core

3433492017 Autoimmune enteropathy type 1 en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3433490013	X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3433491012	X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3433492017	Autoimmune enteropathy type 1	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core