Medical diagnosis: Difference between revisions

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[[File:Xraymachine.JPG|thumb|[[Radiography]] is an important tool in diagnosis of certain disorders.]]
 
'''Medical diagnosis''' (abbreviated '''Dx''',<ref>See ''[[List of medical abbreviations: D]]'' for variants.</ref> '''D<sub>x</sub>''', or '''D<sub>s</sub>''') is the process of determining which [[disease]] or condition explains a person's [[symptom]]s and [[medical sign|signs]]. It is most often referred to as a '''diagnosis''' with the [[medicine|medical]] context being implicit. The information required for a diagnosis is typically collected from a [[medical history|history]] and [[physical examination]] of the person seeking medical care. Often, one or more '''diagnostic procedures''', such as [[medical test]]s, are also done during the process. Sometimes the [[posthumous diagnosis]] is considered a kind of medical diagnosis.
 
Diagnosis is often challenging because many signs and symptoms are [[sensitivity and specificity|nonspecific]]. For example, redness of the [[Human skin|skin]] ([[erythema]]), by itself, is a sign of many disorders and thus does not tell the healthcare professional what is wrong. Thus [[differential diagnosis]], in which several possible explanations are compared and contrasted, must be performed. This involves the [[correlation]] of various pieces of information followed by the recognition and differentiation of patterns. Occasionally the process is made easy by a sign or symptom (or a group of several) that is [[pathognomonic]].{{cn|date=March 2024}}
 
Diagnosis is a major component of the [[Doctor's visit#Procedure|procedure of a doctor's visit]]. From the point of view of [[statistics]], the diagnostic procedure involves [[classification test]]s.
 
== Medical uses ==
A diagnosis, in the sense of diagnostic procedure, can be regarded as an attempt at classification of an individual's condition into separate and distinct categories that allow medical decisions about treatment and prognosis to be made. Subsequently, a diagnostic opinion is often described in terms of a disease or other condition. (In the case of a wrong diagnosis, however, the individual's actual disease or condition is not the same as the individual's diagnosis.) A total evaluation of a condition is often termed a diagnostic workup.<ref name="MW">{{cite web |title=Definition of workup |url=https://www.merriam-webster.com/dictionary/workup |website=www.merriam-webster.com |access-date=30 January 2024 |language=en}}</ref>
 
A diagnostic procedure may be performed by various [[healthcare professional]]s such as a [[physician]], [[chiropractor]], [[physiotherapist]], [[dentist]], [[podiatrist]], [[optometrist]], [[nurse practitioner]], [[Healthcare science|healthcare scientist]] or [[physician assistant]]. This article uses ''diagnostician'' as any of these person categories.{{cn|date=March 2024}}
 
A diagnostic procedure (as well as the opinion reached thereby) does not necessarily involve elucidation of the [[etiology (medicine)|etiology]] of the diseases or conditions of interest, that is, what ''caused'' the disease or condition. Such elucidation can be useful to optimize treatment, further specify the prognosis or prevent recurrence of the disease or condition in the future.{{cn|date=March 2024}}
 
The initial task is to detect a [[Indication (medicine)|medical indication]] to perform a diagnostic procedure. Indications include:{{cn|date=March 2024}}
* Detection of any deviation from what is known to be normal, such as can be described in terms of, for example, [[anatomy]] (the structure of the human body), [[physiology]] (how the body works), [[pathology]] (what can go wrong with the anatomy and physiology), [[psychology]] (thought and behavior) and [[human homeostasis]] (regarding mechanisms to keep body systems in balance). Knowledge of what is normal and measuring of the patient's current condition against those norms can assist in determining the patient's particular departure from homeostasis and the degree of departure, which in turn can assist in quantifying the indication for further diagnostic processing.
* A complaint expressed by a patient.
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The method of differential diagnosis is based on finding as many candidate diseases or conditions as possible that can possibly cause the signs or symptoms, followed by a [[process of elimination]] or at least of rendering the entries more or less probable by further [[medical test]]s and other processing, aiming to reach the point where only one candidate disease or condition remains as probable. The result may also remain a list of possible conditions, ranked in order of probability or severity. Such a list is often generated by computer-aided diagnosis systems.<ref name="dualddx"/>
 
The resultant diagnostic opinion by this method can be regarded more or less as a [[diagnosis of exclusion]]. Even if it does not result in a single probable disease or condition, it can at least rule out any imminently life-threatening conditions.{{cn|date=March 2024}}
 
Unless the provider is certain of the condition present, further medical tests, such as medical imaging, are performed or scheduled in part to confirm or disprove the diagnosis but also to document the patient's status and keep the patient's medical history up to date.{{cn|date=March 2024}}
 
If unexpected findings are made during this process, the initial [[hypothesis]] may be ruled out and the provider must then consider other hypotheses.{{cn|date=March 2024}}
 
=== Pattern recognition ===
In a [[pattern recognition]] method the provider uses experience to recognize a pattern of clinical characteristics.<ref name="Langlois"/>{{rp|198,}}<ref name="Sushkova">{{cite journal |last1=Sushkova |first1=Olga |last2=Morozov |first2=Alexei |last3=Gabova |first3=Alexandra |last4=Karabanov |first4=Alexei |last5=Illarioshkin |first5 =Sergey |journal=Sensors |number=14 |pages=4700 |title=A Statistical Method for Exploratory Data Analysis Based on 2D and 3D Area under Curve Diagrams: Parkinson's Disease Investigation |volume=21 |year=2021 |doi=10.3390/s21144700|pmid=34300440 |pmc=8309570 |bibcode=2021Senso..21.4700S |doi-access=free }}</ref> It is mainly based on certain symptoms or signs being [[Association (psychology)|associated]] with certain diseases or conditions, not necessarily involving the more cognitive processing involved in a differential diagnosis.
 
This may be the primary method used in cases where diseases are "obvious", or the provider's experience may enable him or her to recognize the condition quickly. Theoretically, a certain pattern of signs or symptoms can be directly associated with a certain therapy, even without a definite decision regarding what is the actual disease, but such a compromise carries a substantial risk of missing a diagnosis which actually has a different therapy so it may be limited to cases where no diagnosis can be made.{{cn|date=March 2024}}
 
=== Diagnostic criteria ===
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=== Clinical decision support system ===
[[Clinical decision support system]]s are interactive computer programs designed to assist health professionals with decision-making tasks. The clinician interacts with the software utilizing both the clinician's knowledge and the software to make a better analysis of the patients data than either human or software could make on their own. Typically the system makes suggestions for the clinician to look through and the clinician picks useful information and removes erroneous suggestions.<ref>Decision support systems. 26 July 2005. 17 Feb. 2009 <http://www.openclinical.org/dss.html {{Webarchive|url=https://web.archive.org/web/20200202124813/http://www.openclinical.org/dss.html |date=2020-02-02 }}></ref> Some programs attempt to do this by replacing the clinician, such as reading the output of a heart monitor. Such automated processes are usually deemed a "device" by the FDA and require regulatory approval. In contrast, clinical decision support systems that "support" but do not replace the clinician are deemed to be "Augmented Intelligence" if it meets the FDA criteria that (1) it reveals the underlying data, (2) reveals the underlying logic, and (3) leaves the clinician in charge to shape and make the decision.{{cn|date=March 2024}}
 
=== Other diagnostic procedure methods ===
Other methods that can be used in performing a diagnostic procedure include:
[[File:Assessment and treatment algorithm for overweight and obesity.png|thumb|350px|An example of a medical algorithm for assessment and treatment of [[overweight]] and [[obesity]].]]
* Usage of [[medical algorithm]]s
* An "exhaustive method", in which every possible question is asked and all possible data is collected.<ref name="Langlois"/>{{rp|198}}
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=== Overdiagnosis ===
{{Main|Overdiagnosis}}
Overdiagnosis is the diagnosis of "disease" that will never cause symptoms or death during a patient's lifetime.<ref>{{cite book |title=What is overdiagnosis? |url=https://www.ncbi.nlm.nih.gov/books/NBK430655/ |website=NCBI|date=20 April 2017 |publisher=Institute for Quality and Efficiency in Health Care (IQWiG) }}</ref> It is a problem because it turns people into patients unnecessarily and because it can lead to economic waste<ref>{{cite journal |last1=Coon |first1=Eric |last2=Moyer |first2=Virginia |last3=Schroeder |first3=Alan |last4=Quinonez |first4=Ricardo |title=Overdiagnosis: How Our Compulsion for Diagnosis May Be Harming Children |url= https://pediatrics.aappublications.org/content/134/5/1013 |journal=Pediatrics|year=2014 |volume=134 |issue=5 |pages=1013–23 |doi=10.1542/peds.2014-1778 |pmid=25287462 |s2cid=10441386 |doi-access=free }}</ref> ([[overutilization]]) and treatments that may cause harm. Overdiagnosis occurs when a disease is diagnosed correctly, but the diagnosis is irrelevant. A correct diagnosis may be irrelevant because treatment for the disease is not available, not needed, or not wanted.<ref>{{cite magazine |last1=Gawande |first1=Atul |title=America's Epidemic of Unnecessary Care |url=https://www.newyorker.com/magazine/2015/05/11/overkill-atul-gawande |magazine=The New Yorker|date=4 May 2015 }}</ref>
 
=== Errors ===
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== History ==
{{Main|History of medical diagnosis}}
The first recorded examples of medical diagnosis are found in the writings of [[Imhotep]] (2630–2611 BC) in [[ancient Egypt]] (the [[Edwin Smith Papyrus]]).<ref>{{Cite web|url = https://www.britannica.com/EBchecked/topic/179901/Edwin-Smith-papyrus|title = Edwin Smith Papyrus|access-date = 2015-02-28}}</ref> A [[Babylonia]]n medical textbook, the ''Diagnostic Handbook'' written by [[Esagil-kin-apli]] ([[floruit|fl.]]1069–1046 BC), introduced the use of [[empiricism]], [[logic]] and [[rationality]] in the diagnosis of an illness or [[disease]].<ref>H. F. J. Horstmanshoff, Marten Stol, Cornelis Tilburg (2004), ''Magic and Rationality in Ancient Near Eastern and Graeco-Roman Medicine'', pp. 97–98, [[Brill Publishers]], {{ISBN|90-04-13666-5}}.</ref> [[Traditional Chinese Medicine]], as described in the Yellow Emperor's Inner Canon or [[Huangdi Neijing]], specified four diagnostic methods: inspection, auscultation-olfaction, interrogation, inquiry and [[palpation]].<ref>{{Cite book | last1 = Jingfeng | first1 = C. | title = Encyclopaedia of the History of Science, Technology, and Medicine in Non-Western Cultures | doi = 10.1007/978-1-4020-4425-0_8500 | pages = 1529–34 | year = 2008 | chapter = Medicine in China | isbn = 978-1-4020-4559-2 }}</ref> [[Hippocrates]] was known to make diagnoses by tasting his patients' urine and smelling their sweat.<ref>{{Cite web|url = http://well.blogs.nytimes.com/2008/09/23/what-would-hippocrates-do/|title = What Would Hipocrates Do?|date = 23 September 2008|access-date = February 28, 2015}}</ref>
 
== {{anchor|Etymology}}Word ==
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Diagnosis can take many forms.<ref>{{cite book|last=Treasure|first=Wilfrid|title=Diagnosis and Risk Management in Primary Care: words that count, numbers that speak|chapter=Chapter 1: Diagnosis |year=2011|publisher=Radcliffe|location=Oxford|isbn=978-1-84619-477-1}}</ref> It might be a matter of naming the disease, lesion, dysfunction or disability. It might be a management-naming or prognosis-naming exercise. It may indicate either degree of abnormality on a continuum or kind of abnormality in a classification. It is influenced by non-medical factors such as power, ethics and financial incentives for patient or doctor. It can be a brief summation or an extensive formulation, even taking the form of a story or metaphor. It might be a means of communication such as a computer code through which it triggers payment, prescription, notification, information or advice. It might be [[pathogenic]] or [[salutogenic]]. It is generally uncertain and provisional.
 
Once a diagnostic opinion has been reached, the provider is able to propose a management plan, which will include treatment as well as plans for follow-up. From this point on, in addition to treating the patient's condition, the provider can educate the patient about the [[etiology]], progression, [[prognosis]], other outcomes, and possible treatments of her or his ailments, as well as providing advice for maintaining health.{{cn|date=March 2024}}
 
A treatment plan is proposed which may include therapy and follow-up consultations and tests to [[monitoring (medicine)|monitor]] the condition and the progress of the treatment, if needed, usually according to the medical guidelines provided by the medical field on the treatment of the particular illness.{{cn|date=March 2024}}
 
Relevant information should be added to the [[medical record]] of the patient.
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A failure to respond to treatments that would normally work may indicate a need for review of the diagnosis.
 
[[Nancy McWilliams]] identifies five reasons that determine the necessity for diagnosis:
* diagnosis for treatment planning;
* information contained in it related to prognosis;
* protecting interests of patients;
* a diagnosis might help the therapist to empathize with his patient;
* might reduce the likelihood that some fearful patients will go-by the treatment.<ref>{{cite book|title=Psychoanalytic Diagnosis|last=McWilliams |first=Nancy |title=Psychoanalytic Diagnosis |publisher=[[Guilford Press]] |year=2011 |isbn=978-1-60918-494-0 |edition=2nd |page=8 |author-link=Nancy McWilliams}}</ref>
 
== {{anchor|Related Concepts}}Types ==
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;Clinical diagnosis
:A diagnosis made on the basis of [[medical sign]]s and reported [[symptom]]s, rather than [[diagnostic test]]s{{cn|date=March 2024}}
;Laboratory diagnosis
:A diagnosis based significantly on laboratory reports or test results, rather than the [[physical examination]] of the patient. For instance, a proper diagnosis of infectious diseases usually requires both an examination of signs and symptoms, as well as laboratory test results and characteristics of the pathogen involved.{{cn|date=March 2024}}
;Radiology diagnosis
:A diagnosis based primarily on the results from [[medical imaging]] studies. [[Greenstick fracture]]s are common radiological diagnoses.{{cn|date=March 2024}}
;Electrography diagnosis
:A diagnosis based on measurement and recording of electrophysiologic activity.{{cn|date=March 2024}}
;Endoscopy diagnosis:
:A diagnosis based on endoscopic inspection and observation of the interior of a hollow organ or cavity of the body.{{cn|date=March 2024}}
;Tissue diagnosis
:A diagnosis based on the macroscopic, microscopic, and molecular examination of tissues such as biopsies or whole organs. For example, a definitive diagnosis of [[cancer]] is made via tissue examination by a [[pathologist]].{{cn|date=March 2024}}
;Principal diagnosis
:The single medical diagnosis that is most relevant to the patient's [[chief complaint]] or need for treatment. Many patients have additional diagnoses.{{cn|date=March 2024}}
;Admitting diagnosis
:The diagnosis given as the reason why the patient was admitted to the hospital; it may differ from the actual problem or from the ''discharge diagnoses'', which are the diagnoses recorded when the patient is discharged from the hospital.<ref>{{cite web |title=admitting diagnosis |url=https://medical-dictionary.thefreedictionary.com/admitting+diagnosis |website=The Free Dictionary}}</ref>
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:A medical condition whose presence cannot be established with complete confidence from history, examination or testing. Diagnosis is therefore by elimination of all other reasonable possibilities.
;[[Dual diagnosis]]
:The diagnosis of two related, but separate, medical conditions or [[comorbidities]]. The term almost always referred to a diagnosis of a serious mental illness and a substance use disorder, however, the increasing prevalence of [[genetic testing]] has revealed many cases of patients with multiple concomitant genetic disorders.<ref name="dualddx">{{cite journal|author1=Wadhwa, R. R.|author2=Park, D. Y.|author3=Natowicz, M. R.|title=The accuracy of computer‐based diagnostic tools for the identification of concurrent genetic disorders|journal=American Journal of Medical Genetics Part A|volume=176|issue=12|pages=2704–09|doi=10.1002/ajmg.a.40651|pmid=30475443|year=2018|s2cid=53758271}}</ref>
;[[Self-diagnosis]]
:The diagnosis or identification of a medical conditions in oneself. Self-diagnosis is very common.
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:Rather than focusing on biological processes, a nursing diagnosis identifies people's responses to situations in their lives, such as a readiness to change or a willingness to accept assistance.
;[[Computer-aided diagnosis]]
:Providing [[symptoms]] allows the computer to identify the problem and [[diagnose]] the user to the best of its ability.<ref>{{cite journal|author1=Berner, E. S.|author2=Webster, G. D.|author3=Shugerman, A. A.|author4=Jackson, J. R.|author5=Algina, J.|author6=Baker, A. L.|author7=Ball, E.V.|author8=Cobbs, C. G.|author9=Dennis, V. W.|display-authors=3 |title=Performance of four computer-based diagnostic systems|journal=New England Journal of Medicine|year=1994|volume=330|issue=25|pages=1792–96 |doi=10.1056/NEJM199406233302506|pmid=8190157|doi-access=free}}</ref><ref name="dualddx"/> Health screening begins by identifying the part of the body where the symptoms are located; the computer cross-references a database for the corresponding [[disease]] and presents a diagnosis.<ref>{{cite web | url= http://www.webmedicine.ca | title= Connection between onset of symptoms and diagnosis | author= WebMed Solutions | access-date= 15 January 2012 | archive-url= https://web.archive.org/web/20190213000314/https://www.webmedicine.ca/ | archive-date= 13 February 2019 | url-status= dead }}</ref>
;[[Overdiagnosis]]
:The diagnosis of "disease" that will never cause symptoms, distress, or death during a patient's lifetime
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* [[Medical classification]]
* [[Merck Manual of Diagnosis and Therapy]]
* [[Misdiagnosis]] and [[medicalMedical error]]
* [[Nosology]]
* [[Nursing diagnosis]]