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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
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
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

Wei J, Wong LC, Boland S
Int J Mol Sci 2023 Dec 21;25(1) doi: 10.3390/ijms25010131. PMID: 38203300Free PMC Article
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

Kim SJ, Mesquita FCP, Hochman-Mendez C
Tex Heart Inst J 2023 Oct 16;50(5) doi: 10.14503/THIJ-23-8178. PMID: 37846107Free PMC Article
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
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
Jonas S
Stroke 1988 Aug;19(8):1043-8. doi: 10.1161/01.str.19.8.1043. PMID: 3041650
Plum F
N Engl J Med 1985 Nov 7;313(19):1221-3. doi: 10.1056/NEJM198511073131909. PMID: 3903499
Circulation 1983 Nov;68(5):939-50. doi: 10.1161/01.cir.68.5.939. PMID: 6137292
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
Damgaard Sandahl T
Dan Med J 2014 Oct;61(10):B4755. PMID: 25283626
D'Amico TA
Thorac Surg Clin 2008 Aug;18(3):259-62. doi: 10.1016/j.thorsurg.2008.04.002. PMID: 18831500

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
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
Vakil N, van Zanten SV, Kahrilas P, Dent J, Jones R; Global Consensus Group
Am J Gastroenterol 2006 Aug;101(8):1900-20; quiz 1943. doi: 10.1111/j.1572-0241.2006.00630.x. PMID: 16928254

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