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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  
  • CROGVDisease

Professional guidelines

PubMed

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
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

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
Nickles MA, Ennis WJ, O'Donnell TF Jr, Altman IA
J Wound Care 2023 May 1;32(Sup5):S25-S30. doi: 10.12968/jowc.2023.32.Sup5.S25. PMID: 37121666
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
Leung PB, Davis AM, Kumar S
JAMA 2023 Nov 7;330(17):1687-1688. doi: 10.1001/jama.2023.17935. PMID: 37843854
Kuroda S, Fujimura M, Takahashi J, Kataoka H, Ogasawara K, Iwama T, Tominaga T, Miyamoto S; Research Committee on Moyamoya Disease (Spontaneous Occlusion of Circle of Willis) of the Ministry of Health, Labor, and Welfare, Japan
Neurol Med Chir (Tokyo) 2022 Jul 15;62(7):307-312. Epub 2022 May 25 doi: 10.2176/jns-nmc.2022-0072. PMID: 35613882Free 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

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
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

Zhang Y, Song M, Wang M, Hertzmark E, Wu K, Eliassen AH, Mucci LA, Sun Q, Stampfer MJ, Willett WC, Hu FB, Giovannucci EL
J Intern Med 2024 Sep;296(3):260-279. Epub 2024 Jul 18 doi: 10.1111/joim.13817. PMID: 39021307
Li Z, Rammohan A, Gunasekaran V, Hong S, Chih-Yi Chen I, Kim J, Hervera Marquez KA, Hsu SC, Kirimker EO, Akamatsu N, Shaked O, Finotti M, Yeow M, Genedy L, Dutkowski P, Nadalin S, Boehnert MU, Polak WG, Bonney GK, Mathur A, Samstein B, Emond JC, Testa G, Olthoff KM, Rosen CB, Heimbach JK, Taner T, Wong TC, Lo CM, Hasegawa K, Balci D, Cattral M, Sapisochin G, Selzner N, Jeng LB, Broering D, Joh JW, Chen CL, Suh KS, Rela M, Clavien PA
Am J Transplant 2024 Jul;24(7):1233-1246. Epub 2024 Feb 28 doi: 10.1016/j.ajt.2024.02.023. PMID: 38428639
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

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
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
Januzzi JL Jr, Camargo CA, Anwaruddin S, Baggish AL, Chen AA, Krauser DG, Tung R, Cameron R, Nagurney JT, Chae CU, Lloyd-Jones DM, Brown DF, Foran-Melanson S, Sluss PM, Lee-Lewandrowski E, Lewandrowski KB
Am J Cardiol 2005 Apr 15;95(8):948-54. doi: 10.1016/j.amjcard.2004.12.032. PMID: 15820160
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
Xicoy H, Wieringa B, Martens GJ
Mol Neurodegener 2017 Jan 24;12(1):10. doi: 10.1186/s13024-017-0149-0. PMID: 28118852Free PMC Article
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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