722288007: Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of small intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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 intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune endocrine disease\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Autoimmune endocrine disease\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331456010	Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331457018	Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402878014	An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402879018	An extremely rare, autosomal dominant immunological disorder characterised by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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