827117008: autosomaal recessieve progressieve externe oftalmoplegie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Head finding (finding)\Finding of head region\Finding of eye region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \General finding of soft tissue\Disorder of soft tissue\...
• \Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Finding of eye region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive progressive external ophthalmoplegia
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Muscle finding\Disorder of muscle\...
• \Hereditary myopathy (disorder)\Autosomal recessive progressive external ophthalmoplegia
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Autosomal recessive progressive external ophthalmoplegia
• \Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Metabolic disease\Chronic metabolic disorder\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Chronic disease\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Chronic disease\Chronic metabolic disorder\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal recessive progressive external ophthalmoplegia

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
3873907011	Autosomal recessive progressive external ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3873908018	Autosomal recessive progressive external ophthalmoplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3873909014	arPEO- autosomal recessive progressive external ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9685821000146111	autosomaal recessieve progressieve externe oftalmoplegie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9685831000146113	autosomaal recessieve progressieve externe oftalmoplegie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3873910016	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 generalised skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3873911017	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 generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant 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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