787172004: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \General finding of soft tissue\Disorder of soft tissue\...
• \Disorder of soft tissue of head\Disorder of extraocular muscle\...
• \Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of skeletal muscle\Myoneural disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Finding of head and neck region\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\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\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\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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Finding of head region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Finding of head region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\...
• \Myoneural disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of skeletal muscle\Myoneural disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Chronic disease\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\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\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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\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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