U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
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
Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases.
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

Preventable Fraction in the Context of Disease Progression.
Gonçalves BP, Suzuki E
Epidemiology 2024 Nov 1;35(6):801-804. Epub 2024 Jul 23 doi: 10.1097/EDE.0000000000001770. PMID: 39042461
The tauopathies.
Devi G
Handb Clin Neurol 2023;196:251-265. doi: 10.1016/B978-0-323-98817-9.00015-6. PMID: 37620072
How epigenetics impacts on human diseases.
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
What causes neurodegenerative disease?
Armstrong R
Folia Neuropathol 2020;58(2):93-112. doi: 10.5114/fn.2020.96707. PMID: 32729289
Reducing the Global Burden of Cardiovascular Disease, Part 2: Prevention and Treatment of Cardiovascular Disease.
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

New Biomarkers for Cardiovascular Disease.
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
Diagnosis and Management of Nonalcoholic Fatty Liver Disease.
Leung PB, Davis AM, Kumar S
JAMA 2023 Nov 7;330(17):1687-1688. doi: 10.1001/jama.2023.17935. PMID: 37843854
Pathology of the Nail Unit.
Ruben BS
Dermatol Clin 2021 Apr;39(2):319-336. doi: 10.1016/j.det.2020.12.009. PMID: 33745643
EuroCMR 2019 highlights.
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
A simple index of Crohn's-disease activity.
Harvey RF, Bradshaw JM
Lancet 1980 Mar 8;1(8167):514. doi: 10.1016/s0140-6736(80)92767-1. PMID: 6102236

Therapy

Resist the Temptation of Response-Adaptive Randomization.
Proschan M, Evans S
Clin Infect Dis 2020 Dec 31;71(11):3002-3004. doi: 10.1093/cid/ciaa334. PMID: 32222766Free PMC Article
Closing the evidence gap in infectious disease: point-of-care randomization and informed consent.
Huttner A, Leibovici L, Theuretzbacher U, Huttner B, Paul M
Clin Microbiol Infect 2017 Feb;23(2):73-77. Epub 2016 Aug 3 doi: 10.1016/j.cmi.2016.07.029. PMID: 27497812
Statin therapy in the elderly.
Mungall MM, Gaw A
Curr Opin Lipidol 2004 Aug;15(4):453-7. doi: 10.1097/01.mol.0000137230.77148.ee. PMID: 15243219
Coronary artery surgery study (CASS): a randomized trial of coronary artery bypass surgery. Survival data.
Circulation 1983 Nov;68(5):939-50. doi: 10.1161/01.cir.68.5.939. PMID: 6137292
Continuous or nocturnal oxygen therapy in hypoxemic chronic obstructive lung disease: a clinical trial. Nocturnal Oxygen Therapy Trial Group.
Ann Intern Med 1980 Sep;93(3):391-8. doi: 10.7326/0003-4819-93-3-391. PMID: 6776858

Prognosis

Shock Index Predicts Patient-Related Clinical Outcomes in Stroke.
Myint PK, Sheng S, Xian Y, Matsouaka RA, Reeves MJ, Saver JL, Bhatt DL, Fonarow GC, Schwamm LH, Smith EE
J Am Heart Assoc 2018 Sep 18;7(18):e007581. doi: 10.1161/JAHA.117.007581. PMID: 30371191Free PMC Article
Cancer Incidence and Mortality Through 2020.
Weir HK, White MC
Prev Chronic Dis 2016 Apr 7;13:E48. doi: 10.5888/pcd13.160024. PMID: 27055265Free PMC Article
Long-term outcomes of thoracoscopic lobectomy.
D'Amico TA
Thorac Surg Clin 2008 Aug;18(3):259-62. doi: 10.1016/j.thorsurg.2008.04.002. PMID: 18831500
Confounding factors in observational and intervention studies.
Feldman RA
Ital J Gastroenterol Hepatol 1998 Oct;30 Suppl 3:S248-53. PMID: 10077747
Survival of patients with multiple sclerosis in Denmark: a nationwide, long-term epidemiologic survey.
Brønnum-Hansen H, Koch-Henriksen N, Hyllested K
Neurology 1994 Oct;44(10):1901-7. doi: 10.1212/wnl.44.10.1901. PMID: 7936244

Clinical prediction guides

Acute pancreatitis: A review of diagnosis, severity prediction and prognosis assessment from imaging technology, scoring system and artificial intelligence.
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
Noninvasive assessment of coronary blood flow by transthoracic Doppler echocardiography: basic to practical use in the emergency room.
Watanabe N
J Echocardiogr 2017 Jun;15(2):49-56. Epub 2017 Jan 23 doi: 10.1007/s12574-016-0324-2. PMID: 28116615
Clinical Outcome Measures in Chiari I Malformation.
Yarbrough CK, Greenberg JK, Park TS
Neurosurg Clin N Am 2015 Oct;26(4):533-41. Epub 2015 Aug 4 doi: 10.1016/j.nec.2015.06.008. PMID: 26408063
Design and validation of a histological scoring system for nonalcoholic fatty liver disease.
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
Quantification of coronary artery calcium using ultrafast computed tomography.
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

High-Fiber Diet and Crohn's Disease: Systematic Review and Meta-Analysis.
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
Physical modalities for the conservative treatment of wrist and hand's tenosynovitis: A systematic review.
Ferrara PE, Codazza S, Cerulli S, Maccauro G, Ferriero G, Ronconi G
Semin Arthritis Rheum 2020 Dec;50(6):1280-1290. Epub 2020 Aug 29 doi: 10.1016/j.semarthrit.2020.08.006. PMID: 33065423
Non-coding RNA Resources.
Ning S, Li X
Adv Exp Med Biol 2018;1094:1-7. doi: 10.1007/978-981-13-0719-5_1. PMID: 30191482
The prevalence of Parkinson's disease: a systematic review and meta-analysis.
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
The Montreal definition and classification of gastroesophageal reflux disease: a global evidence-based consensus.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...