787172004: autosomaal recessieve myopathie beginnend op kinderleeftijd met 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\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Myopathy of extraocular muscles\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye 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)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Head finding (finding)\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)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Head finding (finding)\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)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \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)
• \Eye / vision finding\Finding of eye 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)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Finding of eye 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)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \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\Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
• \Eye / vision finding\Finding of eye 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)
• \Eye / vision finding\Finding of eye 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)
• \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\...
• \Hereditary myopathy (disorder)\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)
• \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 myopathy (disorder)\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\Hereditary myopathy (disorder)\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
8075401000146118	autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oftalmoplegie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8075411000146116	autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oftalmoplegie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8620271000146114	autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oogspierverlamming	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Back to Start