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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
3311535016 Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibers with mitochondrial proliferation (ragged-red fibers) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311536015 Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). 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) évolution clinique (attribut) progressif true Inferred relationship Some 5
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Myopathy of extraocular muscles (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle true Inferred relationship Some 2
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Chronic metabolic disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) affection chronique de l'appareil digestif true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) leuco-encéphalopathie true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) progressive external ophthalmoplegia (trouble) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Disorder of gastrointestinal tract (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) Mitochondrial encephalomyopathy (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) localisation d'une constatation (attribut) Cerebral white matter structure true Inferred relationship Some 3
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) localisation d'une constatation (attribut) structure du tractus gastro-intestinal true Inferred relationship Some 1
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some 4
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) localisation d'une constatation (attribut) Eye region structure (body structure) false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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