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725464001: ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale (trouble)


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
3443278011 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443279015 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443280017 Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
761241000241116 ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
882931000172119 OEP chronique de l'adulte avec myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
900541000172113 ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3443281018 A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. 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
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 2
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) Chronic metabolic disorder true Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) Myopathy of extraocular muscles (disorder) true Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle true Inferred relationship Some 1
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) Mitochondrial myopathy true Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) progressive external ophthalmoplegia (trouble) true Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) survenue (attribut) Adulthood (qualifier value) true Inferred relationship Some 3
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) survenue (attribut) Adulthood (qualifier value) true Inferred relationship Some 4
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) survenue (attribut) Adulthood (qualifier value) true Inferred relationship Some 5
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 3
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) localisation d'une constatation (attribut) Eye region structure (body structure) true Inferred relationship Some 4
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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