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

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Bowel finding\...
• \Finding of small intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disorder of intestine (disorder)\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)\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)\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)\syndrome de malabsorption\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\syndrome de malabsorption\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Bowel finding\Finding of small intestine\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Bowel finding\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Immunodeficiency associated with chromosomal abnormality\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Autoimmune disease\Autoimmune endocrine disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Autoimmune disease\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Autoimmune endocrine disease\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\syndrome de malabsorption\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Disorder of small intestine\Autoimmune enteropathy\X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)
• \Disease\Congenital disease\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

Expanded Value Set

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start