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16851005: Mitochondrial myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Muscle finding\Disorder of skeletal AND/OR smooth 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 skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy
\Disease\Metabolic disease\Mitochondrial cytopathy\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

28528010 Mitochondrial myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

28529019 Ragged red myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

743956014 Mitochondrial myopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mitochondrial-lipid-glycogen storage myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Juvenile myopathy AND lactate acidosis	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Fukuhara syndrome	Is a	False	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Mitochondrial encephalomyopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Maternally inherited mitochondrial cardiomyopathy and myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy with sideroblastic anemia syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Pure mitochondrial myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Lethal infantile mitochondrial myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Childhood-onset spasticity with hyperglycinemia	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Periodic paralysis with later-onset distal motor neuropathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Myopathy and diabetes mellitus	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Maternally inherited mitochondrial myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Maternally inherited mitochondrial cardiomyopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
28528010	Mitochondrial myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
28529019	Ragged red myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
743956014	Mitochondrial myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module