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718214007: Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3310432012 Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310433019 Mitochondrial neurogastrointestinal encephalomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401721014 Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401722019 Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterised by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leucoencephalopathy. 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
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Leukoencephalopathy true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Progressive external ophthalmoplegia true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Disorder of gastrointestinal tract (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Mitochondrial encephalomyopathy (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Cerebral white matter structure true Inferred relationship Some 3
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Gastrointestinal tract structure true Inferred relationship Some 1
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Skeletal muscle structure false Inferred relationship Some 4
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Eye region structure (body structure) false Inferred relationship Some 2
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 5
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Myopathy of extraocular muscles true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Structure of extraocular muscle true Inferred relationship Some 2
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Chronic metabolic disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Chronic digestive system disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Chronic brain syndrome true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Interprets Movement true Inferred relationship Some 6
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Interprets Movement observable true Inferred relationship Some 4
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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