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722288007: 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
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 Entire term case sensitive (core metadata concept) SNOMED CT core
1003001000172119 syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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