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724276006: 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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Associated with Chromosomal disorder (disorder) true Inferred relationship Some 3
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a Congenital immunodeficiency disease true Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a Immunodeficiency associated with chromosomal abnormality true Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a Autoimmune enteropathy true Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a Autoimmune endocrine disease true Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Some 4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Finding site Structure of small intestine (body structure) true Inferred relationship Some 5
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 5
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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