722288007: Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome

\Intestinal disease\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Finding of small intestine\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Malabsorption syndrome\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Gastrointestinal complication\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Malabsorption syndrome\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Gastrointestinal complication\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of immune function\Autoimmune disease\Autoimmune endocrine disease\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of immune function\Autoimmune disease\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Autoimmune endocrine disease\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Malabsorption syndrome\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Gastrointestinal complication\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of small intestine\Autoimmune enteropathy\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection 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\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3331457018 Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome en Synonym Active Case insensitive SNOMED CT core

3331458011 An extremely rare autosomal dominant immunological disorder with characteristics of 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Gastrointestinal complication	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Due to	Chromosomal disorder	true	Inferred relationship	Some	3
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Autoimmune enteropathy	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Autoimmune endocrine disease	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Pathological process	Autoimmune process	true	Inferred relationship	Some	5
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Occurrence	Congenital	true	Inferred relationship	Some	6
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Pathological process	Autoimmune process	true	Inferred relationship	Some	6
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Finding site	Structure of small intestine	true	Inferred relationship	Some	5
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	Finding site	Structure of endocrine system	true	Inferred relationship	Some	6

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
3331456010	Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331457018	Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331458011	An extremely rare autosomal dominant immunological disorder with characteristics of 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	Case sensitive	SNOMED CT core