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725464001: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (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
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
5403484010 A rare mitochondrial disease characterized by 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
5403485011 A rare mitochondrial disease characterised by 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
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
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
5403484010 A rare mitochondrial disease characterized by 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
5403485011 A rare mitochondrial disease characterised by 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
536251000274119 CPEO mit mitochondrialer Myopathie mit Beginn im Erwachsenenalter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602891000274110 Chronische externe progressive Ophthalmoplegie mit mitochondrialer Myopathie, adulte Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
882931000172119 OEP chronique de l'adulte avec myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
882931000172119 OEP chronique de l'adulte avec myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
536251000274119 CPEO mit mitochondrialer Myopathie mit Beginn im Erwachsenenalter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602891000274110 Chronische externe progressive Ophthalmoplegie mit mitochondrialer Myopathie, adulte Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381141001000111 Ophthalmoplegie, chronische externe progressive, mit mitochondrialer Myopathie, adulte Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a Mitochondrial myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a Progressive external ophthalmoplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 3
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 4
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 5
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Finding site Eye region structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a Myopathy of extraocular muscles true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Finding site Structure of extraocular muscle true Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 7
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 6
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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