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Diagnosis of exclusion

Medical diagnosis made by ruling out other conditions

Medical diagnosis made by ruling out other conditions

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 presence 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.

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 (health inequity).

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

Examples

An example of such a diagnosis is "fever of unknown origin": to explain the cause of elevated temperature the most common causes of unexplained fever (infection, neoplasm, or collagen vascular disease) must be ruled out.

Other examples include:

  • Fibromyalgia
  • Adult-onset Still's disease
  • Behçet's disease
  • Bell's palsy
  • Burning mouth syndrome
  • Chronic recurrent multifocal osteomyelitis
  • Long COVID
  • Inappropriate sinus tachycardia
  • Psychogenic polydipsia
  • Schizophrenia
  • Somatic symptom disorder
  • Sudden infant death syndrome
  • Thoracic outlet syndrome
  • Tolosa–Hunt syndrome
  • Systemic-onset juvenile idiopathic arthritis

References

References

  1. (2019-06-13). "The Diagnosis of Exclusion".
  2. Fred, Herbert L.. (2013). "The diagnosis of exclusion: an ongoing uncertainty". Texas Heart Institute Journal.
  3. (2010). "Rare Diseases Epidemiology".
  4. (2023-02-09). "The weaponization of medicine: Early psychosis in the Black community and the need for racially informed mental healthcare". Frontiers in Psychiatry.
  5. (September 2017). "Misdiagnosis is an important factor for diagnostic delay in McArdle disease". Neuromuscular Disorders.
  6. (May 2013). "'They've just got symptoms without science': Medical trainees' acquisition of negative attitudes towards patients with medically unexplained symptoms". Patient Education and Counseling.
  7. Jutel, Annemarie. (2010-11-01). "Medically unexplained symptoms and the disease label". Social Theory & Health.
  8. (2017-01-17). "Overdiagnosis of mental disorders in children and adolescents (in developed countries)". Child and Adolescent Psychiatry and Mental Health.
  9. (2021-10-11). "Diagnostic Challenges and Management of Fibromyalgia". Springer Science and Business Media LLC.
  10. (December 2012). "Aseptic meningitis in adult onset Still's disease". Rheumatol Int.
  11. "Behcet Disease: Overview – eMedicine Dermatology".
  12. (August 1991). "Bell's palsy. A diagnosis of exclusion". Postgraduate Medicine.
  13. (June 2007). "Burning mouth syndrome: will better understanding yield better management?". Pain Practice.
  14. (December 2013). "Chronic recurrent multifocal osteomyelitis in a 13 year old female athlete: a case report". The Journal of the Canadian Chiropractic Association.
  15. Leviner, Sherry. (7 May 2021). "Recognizing the Clinical Sequelae of COVID-19 in Adults: COVID-19 Long-Haulers". The Journal for Nurse Practitioners.
  16. (2022-06-21). "Inappropriate Sinus Tachycardia: Etiology, Pathophysiology, and Management: JACC Review Topic of the Week". Journal of the American College of Cardiology.
  17. Prince, Jim McMorran, Damian Crowther, Stew McMorran, Steve Youngmin, Ian Wacogne, Jon Pleat, Clive. "primary polydipsia – General Practice Notebook".
  18. (3 December 2012). "Differential Diagnosis of Psychotic Symptoms: Medical "Mimics"". Psychiatric Times.
  19. Henningsen, Peter. (March 2018). "Management of somatic symptom disorder". Dialogues in Clinical Neuroscience.
  20. (2023-07-24). "Sudden Infant Death Syndrome". StatPearls Publishing.
  21. (2022). "TOS Outreach Network".
  22. (February 1988). "Tolosa-Hunt syndrome revisited: not necessarily a diagnosis of exclusion". AJR. American Journal of Roentgenology.
  23. (2016). "Textbook of Pediatric Rheumatology". Elsevier.
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