725464001: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\General finding of soft tissue\Disorder of soft tissue\...

\Disorder of soft tissue of head\Disorder of extraocular muscle\...

\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Muscle finding\Myopathy\Disorder of skeletal muscle\...

\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Metabolic myopathy\Mitochondrial myopathy\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\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\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\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\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Neurological disorder\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Myopathy\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Myopathy\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Metabolic disease\Chronic metabolic disorder\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Chronic disease\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Chronic disease\Chronic metabolic disorder\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Chronic disease\Chronic nervous system disorder\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3443278011 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3443279015 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy en Synonym Active Case insensitive SNOMED CT core

3443280017 Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy en Synonym Active Initial character case insensitive SNOMED CT core

3443281018 A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Clinical course	Progressive	true	Inferred relationship	Some	2
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	Myopathy of extraocular muscles	true	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Finding site	Structure of extraocular muscle	true	Inferred relationship	Some	1
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Interprets	Movement	true	Inferred relationship	Some	7
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Interprets	Movement observable	true	Inferred relationship	Some	6
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Has interpretation	Absent	true	Inferred relationship	Some	6
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	Mitochondrial myopathy	true	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	Progressive external ophthalmoplegia	true	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Occurrence	Adulthood	true	Inferred relationship	Some	3
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Occurrence	Adulthood	true	Inferred relationship	Some	4
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Occurrence	Adulthood	true	Inferred relationship	Some	5
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	3
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Finding site	Eye region structure	true	Inferred relationship	Some	4
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Finding site	Structure of nervous system	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3443278011	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3443279015	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3443280017	Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3443281018	A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	en	Definition	Active	Case sensitive	SNOMED CT core