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Diagnosis of exclusion

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(Redirected from Exclusion testing)

A diagnosis of exclusion or by exclusion (per exclusionem) is a diagnosis of a medical condition reached by a process of elimination, which may be necessary if the presence of a condition cannot be established with complete confidence from history, examination or testing. Such elimination of other reasonable possibilities is a major component in performing a differential diagnosis (in medical shorthand, a DDx).[1]

Diagnosis by exclusion tends to occur where scientific knowledge is scarce, specifically where the means to verify a diagnosis by an objective method is absent. It can also commonly occur where objective diagnostic tests do exist, but extensive diagnostic testing or sufficient exploration of differential diagnosis by a multidisciplinary team is not undertaken due to financial constraints or assessment bias.[2][3][4]

The largest category of diagnosis by exclusion is psychiatric disorders, where the presence of physical or organic disease must be excluded as a prerequisite for making a functional diagnosis.[5]

Examples

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An example of a diagnosis subject to differential diagnosis (diagnosis by exclusion) is "fever of unknown etiology". To explain the cause (etiology) of the elevated temperature, the most common causes of unexplained fever (infection, neoplasm, or collagen vascular disease) must be ruled out.

Other examples include:

See also

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References

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  1. "The Diagnosis of Exclusion". PM Pediatric Care. 2019-06-13. Retrieved 2024-11-13.
  2. Fred, Herbert L. (2013). "The diagnosis of exclusion: an ongoing uncertainty". Texas Heart Institute Journal. 40 (4): 379–381. ISSN 1526-6702. PMC 3783127. PMID 24082363.
  3. Kole, Anna; Faurisson, François (2010). "Rare diseases social epidemiology: analysis of inequalities". Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology. Vol. 686. pp. 223–250. doi:10.1007/978-90-481-9485-8_14 (inactive 17 July 2025). ISBN 978-90-481-9484-1. ISSN 0065-2598. PMID 20824449.{{cite book}}: CS1 maint: DOI inactive as of July 2025 (link)
  4. Scalco, Renata Siciliani; Morrow, Jasper M.; Booth, Suzanne; Chatfield, Sherryl; Godfrey, Richard; Quinlivan, Ros (September 2017). "Misdiagnosis is an important factor for diagnostic delay in McArdle disease". Neuromuscular Disorders. 27 (9): 852–855. doi:10.1016/j.nmd.2017.04.013. ISSN 0960-8966. PMID 28629675.
  5. Jutel, Annemarie (2010-11-01). "Medically unexplained symptoms and the disease label". Social Theory & Health. 8 (3): 229–245. doi:10.1057/sth.2009.21. ISSN 1477-822X.
  6. Qureshi, Aniqa G; Jha, Saurav K; Iskander, John; Avanthika, Chaithanya; Jhaveri, Sharan; Patel, Vithi Hitendra; Rasagna Potini, Bhuvana; Talha Azam, Ahmad (2021-10-11). "Diagnostic Challenges and Management of Fibromyalgia". Cureus. 13 (10) e18692. Springer Science and Business Media LLC. doi:10.7759/cureus.18692. ISSN 2168-8184. PMC 8580749. PMID 34786265.
  7. Akkara Veetil BM, Yee AH, Warrington KJ, Aksamit AJ Jr, Mason TG (December 2012). "Aseptic meningitis in adult onset Still's disease". Rheumatol Int. 32 (12): 4031–4034. doi:10.1007/s00296-010-1529-8. PMID 20495923. S2CID 19431424.
  8. "Behcet Disease: Overview – eMedicine Dermatology". Retrieved 2009-03-28.
  9. Petruzzelli GJ, Hirsch BE (August 1991). "Bell's palsy. A diagnosis of exclusion". Postgraduate Medicine. 90 (2): 115–118, 121–122, 125–127. doi:10.1080/00325481.1991.11701011. PMID 1862038.
  10. Maltsman-Tseikhin A, Moricca P, Niv D (June 2007). "Burning mouth syndrome: will better understanding yield better management?". Pain Practice. 7 (2): 151–162. doi:10.1111/j.1533-2500.2007.00124.x. PMID 17559486. S2CID 4820793.
  11. Ferguson B, Gryfe D, Hsu W (December 2013). "Chronic recurrent multifocal osteomyelitis in a 13 year old female athlete: a case report". The Journal of the Canadian Chiropractic Association. 57 (4): 334–340. PMC 3845477. PMID 24302781.
  12. Leviner, Sherry (7 May 2021). "Recognizing the Clinical Sequelae of COVID-19 in Adults: COVID-19 Long-Haulers". The Journal for Nurse Practitioners. 17 (8): 946–949. doi:10.1016/j.nurpra.2021.05.003. ISSN 1555-4155. PMC 8103144. PMID 33976591.
  13. Ahmed, Adnan; Pothineni, Naga Venkata K.; Charate, Rishi; Garg, Jalaj; Elbey, Mehmet; de Asmundis, Carlo; LaMeir, Mark; Romeya, Ahmed; Shivamurthy, Poojita; Olshansky, Brian; Russo, Andrea; Gopinathannair, Rakesh; Lakkireddy, Dhanunjaya (2022-06-21). "Inappropriate Sinus Tachycardia: Etiology, Pathophysiology, and Management: JACC Review Topic of the Week". Journal of the American College of Cardiology. 79 (24): 2450–2462. doi:10.1016/j.jacc.2022.04.019. ISSN 0735-1097. PMID 35710196.
  14. Prince, Jim McMorran, Damian Crowther, Stew McMorran, Steve Youngmin, Ian Wacogne, Jon Pleat, Clive. "primary polydipsia – General Practice Notebook". www.gpnotebook.co.uk. Retrieved 2016-11-22.{{cite web}}: CS1 maint: multiple names: authors list (link)
  15. Oliver Freudenreich, M. D. (3 December 2012). "Differential Diagnosis of Psychotic Symptoms: Medical "Mimics"". Psychiatric Times. 27.
  16. Henningsen, Peter (March 2018). "Management of somatic symptom disorder". Dialogues in Clinical Neuroscience. 20 (1): 23–31. doi:10.31887/DCNS.2018.20.1/phenningsen. ISSN 1294-8322. PMC 6016049. PMID 29946208.
  17. Kim, Hoon; Pearson-Shaver, Anthony L. (2023-07-24). "Sudden Infant Death Syndrome". StatPearls Publishing. PMID 32809642. Retrieved 2024-03-13.
  18. "TOS Outreach Network". www.tosoutreach.com. 2022. Retrieved 2025-07-19.
  19. Kwan ES, Wolpert SM, Hedges TR, Laucella M (February 1988). "Tolosa-Hunt syndrome revisited: not necessarily a diagnosis of exclusion". AJR. American Journal of Roentgenology. 150 (2): 413–418. doi:10.2214/ajr.150.2.413. PMID 3257334. S2CID 32214113.
  20. De Benedetti, Fabrizio; Schneider, Rayfel (2016). "Systemic Juvenile Idiopathic Arthritis". Textbook of Pediatric Rheumatology. Elsevier. p. 205–216.e6. doi:10.1016/b978-0-323-24145-8.00016-8. ISBN 978-0-323-24145-8.