Diagnosis of exclusion

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.[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 (health inequity).[2][3][4][5][6]

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.[7][8]

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  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. ISBN 978-90-481-9484-1. ISSN 0065-2598. PMID 20824449.
  4. ^ Faber, Sonya C.; Khanna Roy, Anjalika; Michaels, Timothy I.; Williams, Monnica T. (2023-02-09). "The weaponization of medicine: Early psychosis in the Black community and the need for racially informed mental healthcare". Frontiers in Psychiatry. 14. doi:10.3389/fpsyt.2023.1098292. ISSN 1664-0640. PMC 9947477. PMID 36846217.
  5. ^ 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.
  6. ^ Shattock, Lucy; Williamson, Holly; Caldwell, Kim; Anderson, Kate; Peters, Sarah (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. 91 (2): 249–254. doi:10.1016/j.pec.2012.12.015. ISSN 1873-5134. PMID 23369375.
  7. ^ 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.
  8. ^ Merten, Eva Charlotte; Cwik, Jan Christopher; Margraf, Jürgen; Schneider, Silvia (2017-01-17). "Overdiagnosis of mental disorders in children and adolescents (in developed countries)". Child and Adolescent Psychiatry and Mental Health. 11 (1): 5. doi:10.1186/s13034-016-0140-5. ISSN 1753-2000. PMC 5240230. PMID 28105068. …a diagnostic dilemma unique to mental disorders. Unlike somatic disorders, mental disorders cannot be detected by genetic, neuronal, or physiological correlates.