| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113883.3.3616.200.110.102.6177 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.3616.200.110.102.6177 |
| version | 20221207 |
| status | active |
| publisher | Clinical Architecture |
| name | COVID19SNOMEDValueSetForMitochondrialDisorders |
| title | COVID19 SNOMED Value Set for Mitochondrial Disorders |
| date | 2023-06-21T18:16:37-04:00 |
| experimental | false |
| Usages |
|
This value set contains 127 concepts
| Code | System | Display |
| 1003847003 | http://snomed.info/sct | Pyruvate dehydrogenase phosphatase deficiency (disorder) |
| 1003849000 | http://snomed.info/sct | Pyruvate dehydrogenase complex E2 subunit deficiency (disorder) |
| 1003850000 | http://snomed.info/sct | Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) |
| 1003851001 | http://snomed.info/sct | Pyruvate dehydrogenase complex E1 beta subunit deficiency (disorder) |
| 10394003 | http://snomed.info/sct | Friedreich's ataxia (disorder) |
| 1156853004 | http://snomed.info/sct | Autosomal dominant progressive external ophthalmoplegia type 5 (disorder) |
| 1156855006 | http://snomed.info/sct | Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) |
| 1156856007 | http://snomed.info/sct | Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) |
| 1156857003 | http://snomed.info/sct | Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) |
| 1156858008 | http://snomed.info/sct | Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) |
| 1172586007 | http://snomed.info/sct | Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) |
| 1172841001 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 30 (disorder) |
| 1172843003 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 29 (disorder) |
| 1172844009 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 27 (disorder) |
| 1173034002 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 26 (disorder) |
| 1173035001 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 25 (disorder) |
| 1173036000 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 23 (disorder) |
| 1186718008 | http://snomed.info/sct | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) |
| 1187512003 | http://snomed.info/sct | Non-syndromic mitochondrial sensorineural deafness (disorder) |
| 1187515001 | http://snomed.info/sct | Mitochondrial phosphate carrier deficiency (disorder) |
| 1187517009 | http://snomed.info/sct | Maternally inherited mitochondrial myopathy (disorder) |
| 1187635008 | http://snomed.info/sct | Maternally inherited mitochondrial cardiomyopathy (disorder) |
| 1187640000 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 28 (disorder) |
| 1196869004 | http://snomed.info/sct | Mitochondrial respiratory chain complex IV assembly gene defect (disorder) |
| 1196872006 | http://snomed.info/sct | Mitochondrial respiratory chain complex I structural subunit gene defect (disorder) |
| 1196948002 | http://snomed.info/sct | Mitochondrial respiratory chain complex I assembly gene defect (disorder) |
| 1196950005 | http://snomed.info/sct | Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder) |
| 1197052008 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) |
| 1197430005 | http://snomed.info/sct | Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) |
| 1208937004 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder) |
| 1220595008 | http://snomed.info/sct | Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) |
| 1220598005 | http://snomed.info/sct | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) |
| 1222644009 | http://snomed.info/sct | Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder) |
| 1222649004 | http://snomed.info/sct | Auditory neuropathy, optic atrophy syndrome (disorder) |
| 1222655009 | http://snomed.info/sct | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
| 1222680009 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 24 (disorder) |
| 1231309005 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) |
| 124165006 | http://snomed.info/sct | Deficiency of succinate dehydrogenase (disorder) |
| 133791000119107 | http://snomed.info/sct | Mitochondrial metabolism defect (disorder) |
| 16851005 | http://snomed.info/sct | Mitochondrial myopathy (disorder) |
| 230426003 | http://snomed.info/sct | Myoclonic epilepsy with ragged red fibers (disorder) |
| 237619009 | http://snomed.info/sct | Diabetes-deafness syndrome maternally transmitted (disorder) |
| 237985009 | http://snomed.info/sct | Pearson's syndrome (disorder) |
| 237988006 | http://snomed.info/sct | Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder) |
| 240096000 | http://snomed.info/sct | Mitochondrial cytopathy (disorder) |
| 25792000 | http://snomed.info/sct | Kearns-Sayre syndrome (disorder) |
| 37934003 | http://snomed.info/sct | Mitochondrial-lipid-glycogen storage myopathy (disorder) |
| 39925003 | http://snomed.info/sct | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (disorder) |
| 447292006 | http://snomed.info/sct | Mitochondrial encephalomyopathy (disorder) |
| 4477007 | http://snomed.info/sct | Juvenile myopathy AND lactate acidosis (disorder) |
| 46683007 | http://snomed.info/sct | Pyruvate dehydrogenase complex deficiency (disorder) |
| 472320005 | http://snomed.info/sct | Maternally inherited mitochondrial cardiomyopathy and myopathy (disorder) |
| 58610003 | http://snomed.info/sct | Leber's optic atrophy (disorder) |
| 67434000 | http://snomed.info/sct | Cytochrome-c oxidase deficiency (disorder) |
| 702366001 | http://snomed.info/sct | Childhood myocerebrohepatopathy spectrum (disorder) |
| 703527003 | http://snomed.info/sct | TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) |
| 709414007 | http://snomed.info/sct | Deficiency of mitochondrial complex III (disorder) |
| 715338007 | http://snomed.info/sct | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) |
| 715374003 | http://snomed.info/sct | Autosomal dominant optic atrophy plus syndrome (disorder) |
| 717054001 | http://snomed.info/sct | Maternally inherited mitochondrial dystonia (disorder) |
| 717812000 | http://snomed.info/sct | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) |
| 718124006 | http://snomed.info/sct | Fatal infantile cytochrome C oxidase deficiency (disorder) |
| 718212006 | http://snomed.info/sct | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) |
| 718214007 | http://snomed.info/sct | Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) |
| 718219002 | http://snomed.info/sct | Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) |
| 718880003 | http://snomed.info/sct | Zellweger-like syndrome without peroxisomal anomaly (disorder) |
| 719430008 | http://snomed.info/sct | Leber plus disease (disorder) |
| 720951008 | http://snomed.info/sct | Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) |
| 722037004 | http://snomed.info/sct | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) |
| 722207000 | http://snomed.info/sct | Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) |
| 722212004 | http://snomed.info/sct | Severe X-linked mitochondrial encephalomyopathy (disorder) |
| 724138007 | http://snomed.info/sct | Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) |
| 724173009 | http://snomed.info/sct | Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) |
| 724227000 | http://snomed.info/sct | Infantile onset spinocerebellar ataxia (disorder) |
| 724279004 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 5 (disorder) |
| 724784006 | http://snomed.info/sct | Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder) |
| 725394006 | http://snomed.info/sct | Autosomal recessive ataxia due to ubiquinone deficiency (disorder) |
| 725464001 | http://snomed.info/sct | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) |
| 726702005 | http://snomed.info/sct | Epileptic encephalopathy with global cerebral demyelination (disorder) |
| 732245008 | http://snomed.info/sct | Pure mitochondrial myopathy (disorder) |
| 732951005 | http://snomed.info/sct | Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder) |
| 733599009 | http://snomed.info/sct | Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder) |
| 733600007 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 8 (disorder) |
| 734019006 | http://snomed.info/sct | Chronic diarrhea with villous atrophy syndrome (disorder) |
| 735421004 | http://snomed.info/sct | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) |
| 735732003 | http://snomed.info/sct | Liver disease co-occurrent and due to mitochondrial disorder (disorder) |
| 763110007 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 13 (disorder) |
| 763203009 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 15 (disorder) |
| 763204003 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 7 (disorder) |
| 763209008 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 9 (disorder) |
| 763211004 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 21 (disorder) |
| 763366000 | http://snomed.info/sct | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) |
| 763688008 | http://snomed.info/sct | Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder) |
| 764733009 | http://snomed.info/sct | Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder) |
| 764943000 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 2 (disorder) |
| 765100000 | http://snomed.info/sct | Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) |
| 765401006 | http://snomed.info/sct | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) |
| 765403009 | http://snomed.info/sct | F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) |
| 766251006 | http://snomed.info/sct | Lethal infantile mitochondrial myopathy (disorder) |
| 766876004 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 4 (disorder) |
| 771469002 | http://snomed.info/sct | Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
| 771478008 | http://snomed.info/sct | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder) |
| 771509001 | http://snomed.info/sct | Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) |
| 771513008 | http://snomed.info/sct | Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) |
| 773398005 | http://snomed.info/sct | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) |
| 773423007 | http://snomed.info/sct | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) |
| 773492007 | http://snomed.info/sct | Childhood-onset spasticity with hyperglycinemia (disorder) |
| 774154008 | http://snomed.info/sct | Periodic paralysis with later-onset distal motor neuropathy (disorder) |
| 775908005 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 17 (disorder) |
| 776416004 | http://snomed.info/sct | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) |
| 778029000 | http://snomed.info/sct | FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) |
| 778048001 | http://snomed.info/sct | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) |
| 778065005 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 14 (disorder) |
| 782744007 | http://snomed.info/sct | Lipoic acid synthetase deficiency (disorder) |
| 782745008 | http://snomed.info/sct | Lipoyl transferase 1 deficiency (disorder) |
| 783057002 | http://snomed.info/sct | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder) |
| 783065004 | http://snomed.info/sct | Autosomal recessive optic atrophy type 7 (disorder) |
| 783157004 | http://snomed.info/sct | Leigh syndrome with nephrotic syndrome (disorder) |
| 783178001 | http://snomed.info/sct | Combined oxidative phosphorylation deficiency type 20 (disorder) |
| 783558004 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 11 (disorder) |
| 783722008 | http://snomed.info/sct | Myopathy and diabetes mellitus (disorder) |
| 784347002 | http://snomed.info/sct | Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder) |
| 784370005 | http://snomed.info/sct | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) |
| 827115000 | http://snomed.info/sct | Autosomal dominant progressive external ophthalmoplegia (disorder) |
| 827117008 | http://snomed.info/sct | Autosomal recessive progressive external ophthalmoplegia (disorder) |
| 87694001 | http://snomed.info/sct | Pyruvate carboxylase deficiency (disorder) |
| 93466004 | http://snomed.info/sct | Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) |
Produced 08 Sep 2023