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16851005: Mitochondrial myopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy

\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial myopathy	Is a	Myopathy	false	Inferred relationship	Some
Mitochondrial myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Mitochondrial myopathy	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Mitochondrial myopathy	Is a	Metabolic myopathy	true	Inferred relationship	Some
Mitochondrial myopathy	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mitochondrial-lipid-glycogen storage myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Juvenile myopathy AND lactate acidosis	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
MERRF (myoclonic epilepsy with ragged-red fibers)	Is a	False	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial encephalomyopathy (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy and myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Pure mitochondrial myopathy (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Lethal infantile mitochondrial myopathy (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Childhood-onset spasticity with hyperglycinemia (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Periodic paralysis with later-onset distal motor neuropathy (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
DNA2-related mitochondrial DNA deletion syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Myopathy and diabetes mellitus (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Maternally inherited mitochondrial myopathy (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy (disorder)	Is a	True	Mitochondrial myopathy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
28528010	Mitochondrial myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28529019	Ragged red myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
743956014	Mitochondrial myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1588531000052117	mitokondriell myopati	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)