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 (finding)\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of small intestine (finding)\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of small intestine (finding)\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune endocrine disease (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Autoimmune endocrine disease (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Disorder of small intestine (disorder)\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome

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
5403292016	A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403293014	A rare immunodysregulatory disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement, and infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5403292016	A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403293014	A rare immunodysregulatory disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement, and infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451101001000110	Immun-Dysregulation-Polyendokrinopathie-Enteropathie-Syndrom, X-chromosomal	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451101001000110	Immun-Dysregulation-Polyendokrinopathie-Enteropathie-Syndrom, X-chromosomal	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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