Mitochondrial myopathy 16851005 SNOMED CT code SNOMED code 16851005 name Mitochondrial myopathy status active date introduced 2002-01-31 fully specified name(s) Mitochondrial myopathy (disorder) synonyms Mitochondrial myopathy Ragged red myopathy attributes - group1 Finding site Skeletal muscle structure 127954009 parents children Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 725464001 Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency 733599009 Autosomal dominant mitochondrial myopathy with exercise intolerance 1222644009 Childhood-onset spasticity with hyperglycinemia 773492007 Combined oxidative phosphorylation defect type 39 1279845005 Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 DNA2-related mitochondrial DNA deletion syndrome 783057002 Fukuhara syndrome 57254004 removed: 2019-01-31 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 771509001 Juvenile myopathy AND lactate acidosis 4477007 Lethal infantile mitochondrial myopathy 766251006 Maternally inherited mitochondrial cardiomyopathy 1187635008 Maternally inherited mitochondrial cardiomyopathy and myopathy 472320005 Maternally inherited mitochondrial myopathy 1187517009 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form 1231309005 Mitochondrial encephalomyopathy 447292006 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 784370005 Mitochondrial myopathy with sideroblastic anemia syndrome 724138007 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002 Mitochondrial myopathy, lactic acidosis, deafness syndrome 732951005 Mitochondrial-lipid-glycogen storage myopathy 37934003 Myopathy and diabetes mellitus 783722008 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 237988006 Periodic paralysis with later-onset distal motor neuropathy 774154008 Progressive external ophthalmoplegia, myopathy, emaciation syndrome 764733009 Pure mitochondrial myopathy 732245008 TMEM70 related mitochondrial encephalo-cardio-myopathy 718212006 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 75934005 240096000 16851005 138875005 404684003 106030000 129565002 75047002 26111005 16851005 ancestors sorted most to least specific
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