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

\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of 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\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\Disorder of 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\Disorder of abdomen\Disorder of lower gastrointestinal tract\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

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 SNOMED CT core module

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

3433492017 Autoimmune enteropathy type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3433491012	X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3433492017	Autoimmune enteropathy type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module