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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

Samson SL, Vellanki P, Blonde L, Christofides EA, Galindo RJ, Hirsch IB, Isaacs SD, Izuora KE, Low Wang CC, Twining CL, Umpierrez GE, Valencia WM
Endocr Pract 2023 May;29(5):305-340. doi: 10.1016/j.eprac.2023.02.001. PMID: 37150579
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

Recent clinical studies

Etiology

The WCOTROCHADIC
Biomed Environ Sci 2023 Aug 20;36(8):669-701. doi: 10.3967/bes2023.106. PMID: 37711081
Devi G
Handb Clin Neurol 2023;196:251-265. doi: 10.1016/B978-0-323-98817-9.00015-6. PMID: 37620072
Farsetti A, Illi B, Gaetano C
Eur J Intern Med 2023 Aug;114:15-22. Epub 2023 Jun 3 doi: 10.1016/j.ejim.2023.05.036. PMID: 37277249
Armstrong R
Folia Neuropathol 2020;58(2):93-112. doi: 10.5114/fn.2020.96707. PMID: 32729289
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

Diagnosis

Miglani A, Lal D, Divekar RD
Otolaryngol Clin North Am 2023 Feb;56(1):11-22. doi: 10.1016/j.otc.2022.09.015. PMID: 36410988
Gupta S, Allegretti JR
Gastroenterol Clin North Am 2022 Jun;51(2):241-269. Epub 2022 Apr 27 doi: 10.1016/j.gtc.2021.12.006. PMID: 35595413
Maritati F, Peyronel F, Vaglio A
Rheumatology (Oxford) 2020 May 1;59(Suppl 3):iii123-iii131. doi: 10.1093/rheumatology/kez667. PMID: 32348524
Rodriguez-Palomares JF, Edvardsen T, Almeida AG, Petersen SE
Eur Heart J Cardiovasc Imaging 2020 Feb 1;21(2):127-131. doi: 10.1093/ehjci/jez307. PMID: 31821461
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

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
Oberg AL, Vitek O
J Proteome Res 2009 May;8(5):2144-56. doi: 10.1021/pr8010099. PMID: 19222236
Jonas S
Stroke 1988 Aug;19(8):1043-8. doi: 10.1161/01.str.19.8.1043. PMID: 3041650
Ann Intern Med 1980 Sep;93(3):391-8. doi: 10.7326/0003-4819-93-3-391. PMID: 6776858

Prognosis

Kong SH, Kim JH, Park MY, Kim SW, Shin CS
J Cancer Res Clin Oncol 2021 Oct;147(10):3091-3097. Epub 2021 Mar 18 doi: 10.1007/s00432-021-03576-9. PMID: 33738545
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
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
Bento D, Azevedo O, Santos R, Almeida A, Domingues K, Marmelo B, Reis L, Ruivo C, Guerreiro R, Lima R, Faria R, Marreiros A, Marques N; SUNSHINE Investigators group
Rev Port Cardiol (Engl Ed) 2019 May;38(5):349-357. Epub 2019 Jun 17 doi: 10.1016/j.repc.2018.07.010. PMID: 31221486
Damgaard Sandahl T
Dan Med J 2014 Oct;61(10):B4755. PMID: 25283626

Clinical prediction guides

Hu JX, Zhao CF, Wang SL, Tu XY, Huang WB, Chen JN, Xie Y, Chen CR
World J Gastroenterol 2023 Oct 7;29(37):5268-5291. doi: 10.3748/wjg.v29.i37.5268. PMID: 37899784Free PMC Article
Lee DW, Cho CM
Medicina (Kaunas) 2022 Jun 11;58(6) doi: 10.3390/medicina58060787. PMID: 35744050Free 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

Serrano Fernandez V, Seldas Palomino M, Laredo-Aguilera JA, Pozuelo-Carrascosa DP, Carmona-Torres JM
Nutrients 2023 Jul 12;15(14) doi: 10.3390/nu15143114. PMID: 37513532Free PMC Article
Dan X, Wechter N, Gray S, Mohanty JG, Croteau DL, Bohr VA
Ageing Res Rev 2021 Sep;70:101416. Epub 2021 Jul 27 doi: 10.1016/j.arr.2021.101416. PMID: 34325072Free PMC Article
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
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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