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16851005: Mitochondrial myopathy (disorder)

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

Descriptions:

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
28528010 Mitochondrial myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
569541000172110 myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
569541000172110 myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

42 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial myopathy (disorder) Is a Myopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial myopathy (disorder) Is a Disorder of skeletal muscle false Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy (disorder) Is a Metabolic myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy (disorder) Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Mitochondrial-lipid-glycogen storage myopathy Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile myopathy AND lactate acidosis Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fukuhara syndrome Is a False Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial encephalomyopathy (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy with sideroblastic anemia syndrome Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Periodic paralysis with later-onset distal motor neuropathy Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
DNA2-related mitochondrial DNA deletion syndrome Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy and diabetes mellitus (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial myopathy (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial cardiomyopathy (disorder) Is a False Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a True Mitochondrial myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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