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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654903015	Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654905010	PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3654906011	Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404369011	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 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 (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404370012	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 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 (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3654902013	Progressive external ophthalmoplegia, myopathy, emaciation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654903015	Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654905010	PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3654906011	Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404369011	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 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 (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404370012	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 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 (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
542821000274112	Mitochondriales DNA-Maintenance-Syndrom durch MGME1-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416721001000117	Progressive externe Ophthalmoplegie-Myopathie-Kachexie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
884741000172116	syndrome d'ophtalmoplégie externe progressive-myopathie-émaciation	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
903941000172112	syndrome d'OEP-myopathie-émaciation	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
884741000172116	syndrome d'ophtalmoplégie externe progressive-myopathie-émaciation	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
903941000172112	syndrome d'OEP-myopathie-émaciation	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
542821000274112	Mitochondriales DNA-Maintenance-Syndrom durch MGME1-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416721001000117	Progressive externe Ophthalmoplegie-Myopathie-Kachexie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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