827115000: Autosomal dominant progressive external ophthalmoplegia (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\...
• \Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\maladie chronique des annexes de l'oeil\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Finding of head region\constatation à propos d'une orbite\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\maladie chronique des annexes de l'oeil\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une orbite\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\maladie chronique des annexes de l'oeil\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \maladie chronique de l'appareil locomoteur\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\maladie chronique des annexes de l'oeil\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Ophthalmoplegia\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\maladie chronique des annexes de l'oeil\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\trouble métabolique\Mitochondrial cytopathy\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\trouble métabolique\Chronic metabolic disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\maladie chronique\maladie chronique des annexes de l'oeil\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\maladie chronique\Chronic metabolic disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Autosomal dominant progressive external ophthalmoplegia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3873901012	Autosomal dominant progressive external ophthalmoplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3873902017	Autosomal dominant progressive external ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3873903010	adPEO - autosomal dominant progressive external ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3873904016	A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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