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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

42 descendants. Search Descendants:

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
Fukuhara syndrome 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 False Mitochondrial myopathy Inferred relationship Some
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Mitochondrial myopathy Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a True Mitochondrial myopathy Inferred relationship Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Mitochondrial myopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 39 Is a True Mitochondrial myopathy Inferred relationship Some

This concept is not in any reference sets

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