764733009: Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)

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

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654902013	Progressive external ophthalmoplegia, myopathy, emaciation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654903015	Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3654905010	PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3654906011	Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3654907019	A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterised by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalised muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3654908012	A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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