1156853004: autosomaal dominante progressieve externe oftalmoplegie type 5 (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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Eye / vision finding\Finding of eye region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Muscle finding\Disorder of muscle\...
• \Hereditary myopathy (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \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 dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Metabolic disease\Chronic metabolic disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Chronic disease\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Chronic disease\Chronic metabolic disorder\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Autosomal dominant progressive external ophthalmoplegia (disorder)\Autosomal dominant progressive external ophthalmoplegia type 5

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4576332019	Autosomal dominant progressive external ophthalmoplegia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576333012	Autosomal dominant progressive external ophthalmoplegia type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12891561000146118	autosomaal dominante progressieve externe oftalmoplegie type 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12891571000146112	autosomaal dominante progressieve externe oftalmoplegie type 5 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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