787172004: Childhood-onset autosomal recessive myopathy with 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\...
• \Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with 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\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Finding of head region\constatation à propos d'une orbite\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with 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\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with 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\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with 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\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\...
• \affection des muscles et des nerfs périphériques combinée (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \maladie chronique de l'appareil locomoteur\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with 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\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with 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\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Ophthalmoplegia\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with 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)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\maladie chronique\maladie chronique des annexes de l'oeil\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\progressive external ophthalmoplegia (trouble)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3774798014	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3774799018	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3774802010	A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3774803017	A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fibre uniformity, absent or abnormally small type 2A fibres, increased variability of fibre size, internalised nuclei and/or fatty infiltration.	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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