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Disease

MedGen UID:
4347
•Concept ID:
C0012634
•
Disease or Syndrome
Synonym: Diseases
SNOMED CT: Disease (64572001); Clinical disease AND/OR syndrome (64572001); Disorder (64572001); Disorders (64572001); Diseases (64572001)

Definition

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

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

Parkinson's Disease and Dementia with Lewy Bodies: One and the Same.
Borghammer P, Okkels N, Weintraub D
J Parkinsons Dis 2024;14(3):383-397. doi: 10.3233/JPD-240002. PMID: 38640172Free PMC Article
Crohn's disease.
Roda G, Chien Ng S, Kotze PG, Argollo M, Panaccione R, Spinelli A, Kaser A, Peyrin-Biroulet L, Danese S
Nat Rev Dis Primers 2020 Apr 2;6(1):22. doi: 10.1038/s41572-020-0156-2. PMID: 32242028
Diagnosis and Treatment of Parkinson Disease: A Review.
Armstrong MJ, Okun MS
JAMA 2020 Feb 11;323(6):548-560. doi: 10.1001/jama.2019.22360. PMID: 32044947
Crohn Disease: Epidemiology, Diagnosis, and Management.
Feuerstein JD, Cheifetz AS
Mayo Clin Proc 2017 Jul;92(7):1088-1103. Epub 2017 Jun 7 doi: 10.1016/j.mayocp.2017.04.010. PMID: 28601423
Chagas disease.
Rassi A Jr, Rassi A, Marin-Neto JA
Lancet 2010 Apr 17;375(9723):1388-402. doi: 10.1016/S0140-6736(10)60061-X. PMID: 20399979

Diagnosis

Parkinson Disease.
Halli-Tierney AD, Luker J, Carroll DG
Am Fam Physician 2020 Dec 1;102(11):679-691. PMID: 33252908
The neuropathological diagnosis of Alzheimer's disease.
DeTure MA, Dickson DW
Mol Neurodegener 2019 Aug 2;14(1):32. doi: 10.1186/s13024-019-0333-5. PMID: 31375134Free PMC Article
Crohn Disease: Epidemiology, Diagnosis, and Management.
Feuerstein JD, Cheifetz AS
Mayo Clin Proc 2017 Jul;92(7):1088-1103. Epub 2017 Jun 7 doi: 10.1016/j.mayocp.2017.04.010. PMID: 28601423
Huntington's disease.
Ha AD, Fung VS
Curr Opin Neurol 2012 Aug;25(4):491-8. doi: 10.1097/WCO.0b013e3283550c97. PMID: 22772878
Chagas disease.
Rassi A Jr, Rassi A, Marin-Neto JA
Lancet 2010 Apr 17;375(9723):1388-402. doi: 10.1016/S0140-6736(10)60061-X. PMID: 20399979

Therapy

Validation study of WOMAC: a health status instrument for measuring clinically important patient relevant outcomes to antirheumatic drug therapy in patients with osteoarthritis of the hip or knee.
Bellamy N, Buchanan WW, Goldsmith CH, Campbell J, Stitt LW
J Rheumatol 1988 Dec;15(12):1833-40. PMID: 3068365
Coated oral 5-aminosalicylic acid therapy for mildly to moderately active ulcerative colitis. A randomized study.
Schroeder KW, Tremaine WJ, Ilstrup DM
N Engl J Med 1987 Dec 24;317(26):1625-9. doi: 10.1056/NEJM198712243172603. PMID: 3317057
Sclerotherapy in acute variceal bleeding: technique and results.
Terblanche J, Bornman PC, Kahn D, Kirsh RE
Endoscopy 1986 May;18 Suppl 2:23-7. doi: 10.1055/s-2007-1018422. PMID: 3519191
Surgical clinical trials.
Donegan WL
Cancer 1984 Feb 1;53(3 Suppl):691-9. doi: 10.1002/1097-0142(19840201)53:3+<691::aid-cncr2820531317>3.0.co;2-x. PMID: 6362822
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

Global burden of prostate cancer: age-period-cohort analysis from 1990 to 2021 and projections until 2040.
Chu F, Chen L, Guan Q, Chen Z, Ji Q, Ma Y, Ji J, Sun M, Huang T, Song H, Zhou H, Lin X, Zheng Y
World J Surg Oncol 2025 Mar 20;23(1):98. doi: 10.1186/s12957-025-03733-1. PMID: 40114188Free PMC Article
Baseline C-reactive protein levels and prognosis in patients with infective endocarditis: A prospective cohort study.
Mohanan S, Gopalan Nair R, Vellani H, C G S, George B, M N K
Indian Heart J 2018 Dec;70 Suppl 3(Suppl 3):S43-S49. Epub 2018 May 17 doi: 10.1016/j.ihj.2018.05.001. PMID: 30595302Free PMC Article
Patterns, Timing, and Predictors of Recurrence Following Pancreatectomy for Pancreatic Ductal Adenocarcinoma.
Groot VP, Rezaee N, Wu W, Cameron JL, Fishman EK, Hruban RH, Weiss MJ, Zheng L, Wolfgang CL, He J
Ann Surg 2018 May;267(5):936-945. doi: 10.1097/SLA.0000000000002234. PMID: 28338509
Pediatric Thyroid Microcarcinoma.
Lerner J, Goldfarb M
Ann Surg Oncol 2015 Dec;22(13):4187-92. Epub 2015 Apr 9 doi: 10.1245/s10434-015-4546-8. PMID: 25854844
Alcoholic hepatitis.
Damgaard Sandahl T
Dan Med J 2014 Oct;61(10):B4755. PMID: 25283626

Clinical prediction guides

Voice in Friedreich Ataxia.
Vogel AP, Wardrop MI, Folker JE, Synofzik M, Corben LA, Delatycki MB, Awan SN
J Voice 2017 Mar;31(2):243.e9-243.e19. Epub 2016 Aug 5 doi: 10.1016/j.jvoice.2016.04.015. PMID: 27501923
Histopathology of nonalcoholic fatty liver disease/nonalcoholic steatohepatitis.
Takahashi Y, Fukusato T
World J Gastroenterol 2014 Nov 14;20(42):15539-48. doi: 10.3748/wjg.v20.i42.15539. PMID: 25400438Free PMC Article
Dysphagia bedside screening for acute-stroke patients: the Gugging Swallowing Screen.
Trapl M, Enderle P, Nowotny M, Teuschl Y, Matz K, Dachenhausen A, Brainin M
Stroke 2007 Nov;38(11):2948-52. Epub 2007 Sep 20 doi: 10.1161/STROKEAHA.107.483933. PMID: 17885261
Periodontal disease progression.
Reddy MS, Geurs NC, Jeffcoat RL, Proskin H, Jeffcoat MK
J Periodontol 2000 Oct;71(10):1583-90. doi: 10.1902/jop.2000.71.10.1583. PMID: 11063391
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

Analysis the Link between Periodontal Diseases and Alzheimer's Disease: A Systematic Review.
Borsa L, Dubois M, Sacco G, Lupi L
Int J Environ Res Public Health 2021 Sep 3;18(17) doi: 10.3390/ijerph18179312. PMID: 34501899Free PMC Article
Global Prevalence of Celiac Disease: Systematic Review and Meta-analysis.
Singh P, Arora A, Strand TA, Leffler DA, Catassi C, Green PH, Kelly CP, Ahuja V, Makharia GK
Clin Gastroenterol Hepatol 2018 Jun;16(6):823-836.e2. Epub 2018 Mar 16 doi: 10.1016/j.cgh.2017.06.037. PMID: 29551598
Worldwide incidence and prevalence of inflammatory bowel disease in the 21st century: a systematic review of population-based studies.
Ng SC, Shi HY, Hamidi N, Underwood FE, Tang W, Benchimol EI, Panaccione R, Ghosh S, Wu JCY, Chan FKL, Sung JJY, Kaplan GG
Lancet 2017 Dec 23;390(10114):2769-2778. Epub 2017 Oct 16 doi: 10.1016/S0140-6736(17)32448-0. PMID: 29050646
Nonalcoholic fatty liver disease: a systematic review.
Rinella ME
JAMA 2015 Jun 9;313(22):2263-73. doi: 10.1001/jama.2015.5370. PMID: 26057287
Crohn's disease.
Mills SC, von Roon AC, Tekkis PP, Orchard TR
BMJ Clin Evid 2011 Apr 27;2011 PMID: 21524318Free PMC Article

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