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Disease

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
Synonym: Disease or disorder
SNOMED CT: Disease (64572001); Clinical disease AND/OR syndrome (64572001); Disorder (64572001); Disorders (64572001); Diseases (64572001)
 
Monarch Initiative: MONDO:0000001
Orphanet: ORPHA377788

Definition

A disorder with homogeneous therapeutic possibilities and an identified pathophysiological mechanism. Developmental anomalies are excluded. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Disease

Professional guidelines

PubMed

Kidney Disease: Improving Global Outcomes (KDIGO) Diabetes Work Group
Kidney Int 2022 Nov;102(5S):S1-S127. doi: 10.1016/j.kint.2022.06.008. PMID: 36272764
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Kidney Disease: Improving Global Outcomes (KDIGO) Diabetes Work Group
Kidney Int 2020 Oct;98(4S):S1-S115. doi: 10.1016/j.kint.2020.06.019. PMID: 32998798

Recent clinical studies

Etiology

Armstrong R
Folia Neuropathol 2020;58(2):93-112. doi: 10.5114/fn.2020.96707. PMID: 32729289
Reamy BV, Williams PM, Kuckel DP
Prim Care 2018 Mar;45(1):25-44. doi: 10.1016/j.pop.2017.11.003. PMID: 29406943
Leonard EA, Marshall RJ
Prim Care 2018 Mar;45(1):131-141. Epub 2017 Dec 13 doi: 10.1016/j.pop.2017.10.004. PMID: 29406939
Leong DP, Joseph PG, McKee M, Anand SS, Teo KK, Schwalm JD, Yusuf S
Circ Res 2017 Sep 1;121(6):695-710. doi: 10.1161/CIRCRESAHA.117.311849. PMID: 28860319
Raherison C, Girodet PO
Eur Respir Rev 2009 Dec;18(114):213-21. doi: 10.1183/09059180.00003609. PMID: 20956146

Diagnosis

Madetko N, Marzec W, Kowalska A, Przewodowska D, Alster P, Koziorowski D
Front Immunol 2022;13:852215. Epub 2022 Mar 1 doi: 10.3389/fimmu.2022.852215. PMID: 35300333Free PMC Article
Maritati F, Peyronel F, Vaglio A
Rheumatology (Oxford) 2020 May 1;59(Suppl 3):iii123-iii131. doi: 10.1093/rheumatology/kez667. PMID: 32348524
Sánchez-Oro R, Alonso-Muñoz EM, Martí Romero L
Gastroenterol Hepatol 2019 Dec;42(10):638-647. Epub 2019 Nov 11 doi: 10.1016/j.gastrohep.2019.08.009. PMID: 31722794
Leonard EA, Marshall RJ
Prim Care 2018 Mar;45(1):131-141. Epub 2017 Dec 13 doi: 10.1016/j.pop.2017.10.004. PMID: 29406939
Vestbo J
Clin Chest Med 2014 Mar;35(1):1-6. Epub 2013 Dec 12 doi: 10.1016/j.ccm.2013.10.010. PMID: 24507832

Therapy

Gupta V, Walia GK, Sachdeva MP
Public Health 2017 Apr;145:113-119. Epub 2017 Jan 21 doi: 10.1016/j.puhe.2016.12.033. PMID: 28359378
Weimer K, Enck P
Handb Exp Pharmacol 2014;225:237-72. doi: 10.1007/978-3-662-44519-8_14. PMID: 25304536
Jonas S
Stroke 1988 Aug;19(8):1043-8. doi: 10.1161/01.str.19.8.1043. PMID: 3041650
Lancet 1988 Feb 27;1(8583):450. PMID: 2893872
Ann Intern Med 1980 Sep;93(3):391-8. doi: 10.7326/0003-4819-93-3-391. PMID: 6776858

Prognosis

Mittra I, Mishra GA, Dikshit RP, Gupta S, Kulkarni VY, Shaikh HKA, Shastri SS, Hawaldar R, Gupta S, Pramesh CS, Badwe RA
BMJ 2021 Feb 24;372:n256. doi: 10.1136/bmj.n256. PMID: 33627312Free PMC Article
He H, Chen N, Hou Y, Wang Z, Zhang Y, Zhang G, Fu J
Thorac Cancer 2020 May;11(5):1121-1128. Epub 2020 Mar 10 doi: 10.1111/1759-7714.13311. PMID: 32154652Free PMC Article
Wang X, Liu F, Li J, Yang X, Chen J, Cao J, Wu X, Lu X, Huang J, Li Y, Zhao L, Shen C, Hu D, Yu L, Liu X, Wu X, Wu S, Gu D
Eur J Prev Cardiol 2020 Dec;27(18):1956-1963. Epub 2020 Jan 8 doi: 10.1177/2047487319894685. PMID: 31914807
Li N, Deng Y, Zhou L, Tian T, Yang S, Wu Y, Zheng Y, Zhai Z, Hao Q, Song D, Zhang D, Kang H, Dai Z
J Hematol Oncol 2019 Dec 21;12(1):140. doi: 10.1186/s13045-019-0828-0. PMID: 31864424Free PMC Article
Damgaard Sandahl T
Dan Med J 2014 Oct;61(10):B4755. PMID: 25283626

Clinical prediction guides

Lee DW, Cho CM
Medicina (Kaunas) 2022 Jun 11;58(6) doi: 10.3390/medicina58060787. PMID: 35744050Free PMC Article
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ
Hum Mutat 2016 Jan;37(1):127-34. Epub 2015 Oct 29 doi: 10.1002/humu.22918. PMID: 26467025Free PMC Article
Gerwin N, Bendele AM, Glasson S, Carlson CS
Osteoarthritis Cartilage 2010 Oct;18 Suppl 3:S24-34. doi: 10.1016/j.joca.2010.05.030. PMID: 20864021
Kleiner DE, Brunt EM, Van Natta M, Behling C, Contos MJ, Cummings OW, Ferrell LD, Liu YC, Torbenson MS, Unalp-Arida A, Yeh M, McCullough AJ, Sanyal AJ; Nonalcoholic Steatohepatitis Clinical Research Network
Hepatology 2005 Jun;41(6):1313-21. doi: 10.1002/hep.20701. PMID: 15915461
Agatston AS, Janowitz WR, Hildner FJ, Zusmer NR, Viamonte M Jr, Detrano R
J Am Coll Cardiol 1990 Mar 15;15(4):827-32. doi: 10.1016/0735-1097(90)90282-t. PMID: 2407762

Recent systematic reviews

Bianchi VE, Herrera PF, Laura R
Nutr Neurosci 2021 Oct;24(10):810-834. Epub 2019 Nov 4 doi: 10.1080/1028415X.2019.1681088. PMID: 31684843
Papageorgiou SN, Hagner M, Nogueira AV, Franke A, Jäger A, Deschner J
J Clin Periodontol 2017 Apr;44(4):382-393. Epub 2017 Mar 6 doi: 10.1111/jcpe.12698. PMID: 28117909
Ettehad D, Emdin CA, Kiran A, Anderson SG, Callender T, Emberson J, Chalmers J, Rodgers A, Rahimi K
Lancet 2016 Mar 5;387(10022):957-967. Epub 2015 Dec 24 doi: 10.1016/S0140-6736(15)01225-8. PMID: 26724178
Tassinari M, Mandrioli D, Gaggioli N, Roberti di Sarsina P
Audiol Neurootol 2015;20(3):153-65. Epub 2015 Mar 31 doi: 10.1159/000375393. PMID: 25832807
Pringsheim T, Jette N, Frolkis A, Steeves TD
Mov Disord 2014 Nov;29(13):1583-90. Epub 2014 Jun 28 doi: 10.1002/mds.25945. PMID: 24976103

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