Medical diagnosis

Medical diagnosis (often simply termed diagnosis) refers both to the process of attempting to determine and/or identify a possible disease or disorder (and diagnosis in this sense can also be termed (medical) diagnostic procedure), and to the opinion reached by this process (also being termed (medical) diagnostic opinion). From the point of view of statistics the diagnostic procedure involves classification tests. It is a major component of, for example, the procedure of a doctor's visit.

The plural of diagnosis is diagnoses, the verb is to diagnose, and a person who diagnoses is called a diagnostician. The word diagnosis (/daɪ.əɡˈnoʊsɨs/) is derived through Latin from the Greek word διαγιγνώσκειν, meaning to discern or distinguish.^[1] This Greek word is formed from διά, meaning apart, and γιγνώσκειν, meaning to perceive.

Overview

A diagnosis, in the sense of diagnostic procedure, can be regarded as an attempt at classification of a 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, but in the case of a wrong diagnosis, the individual's actual disease or condition is not the same as the individual's diagnosis.

A diagnostic procedure may be performed by various health care professionals such as a physician, physical therapist, chiropractor, healthcare scientist, dentist, podiatrist, nurse practitioner, or physician assistants. This article uses diagnostician as any of these person categories.

A diagnostic procedure (as well as the opinion reached thereby) does not necessarily involve elucidation of the etiology of the diseases or conditions of interest, that is, what caused the disease or condition. Such further elucidation can, however, be useful to optimize treatment, further specify the prognosis or prevent recurrence of the disease or condition in the future.

It should be noted, however, that medical diagnosis in psychology or psychiatry is problematic. There are differing theoretical views toward mental conditions and few objective tests available for various major disorders (e.g., clinical depression), so a causal analysis with respect to symptomatology and disorder/disease is not always possible. As a result, most if not all mental conditions function as both symptoms and disorders. There are often functional descriptions provided for psychological disorders and these are vulnerable to circular reasoning due to the etiological fuzziness inherent of these diagnostic categories. (BDG, 2006)

Indication for diagnostic procedure

The initial task is to detect a medical indication to perform a diagnostic procedure. Indications include:

• 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.
• The fact that a patient has sought a diagnostician can itself be an indication to perform a diagnostic procedure. Therefore, in, for example, a doctor's visit, the physician may already start performing a diagnostic procedure by, for example, watching the gait of the patient from the waiting room to the doctor's office even before she or he has started to present any complaints.

Even during an already ongoing diagnostic procedure, there can be an indication to perform another, separate, diagnostic procedure for another, potentially concomitant, disease or condition. This may occur as a result of an incidental finding of a sign unrelated to the parameter of interest, such as can occur in comprehensive tests such as radiological studies like magnetic resonance imaging or blood test panels that also include blood tests that are not relevant for the ongoing diagnosis.

General components

General components, which are present in a diagnostic procedure in most of the various available methods include:

• Complementing the already given information with further data gathering, which may include questions of the medical history (potentially from other people close to the patient as well), physical examination and various diagnostic tests.
  A diagnostic test is any kind of medical test performed to aid in the diagnosis or detection of disease. Diagnostic tests can also be used to provide prognostic information on people with established disease.^[2]
• Processing of the answers, findings or other results. Consultations with other providers and specialists in the field may be sought.

Specific methods

There are a number of methods or techniques that can be used in a diagnostic procedure, including performing a differential diagnosis or following medical algorithms.^[3] In reality, a diagnostic procedure may involve components of multiple methods.^[4]

Differential diagnosis

Main article: Differential diagnosis

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 tests and other processing until, aiming to reach the point where only one candidate disease or condition remains as probable. The final result may also remain a list of possible conditions, ranked in order of probability and/or severity.

The resultant diagnostic opinion by this method can be regarded more or less as a diagnosis of exclusion. Even if it doesn't result in a single probable disease or condition, it can at least rule out any imminently life-threatening conditions.

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.

If unexpected findings are made during this process, the initial hypothesis may be ruled out and the provider must then consider other hypotheses.

Pattern recognition

In a pattern recognition method the provider uses experience to recognize a pattern of clinical characteristics.^[3] It is mainly based on certain symptoms or signs being 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.

Diagnostic criteria

The term diagnostic criteria designates the specific combination of signs, symptoms, and test results that the clinician uses to attempt to determine the correct diagnosis.

Some examples of diagnostic criteria are:

• Amsterdam criteria for hereditary nonpolyposis colorectal cancer
• McDonald criteria for multiple sclerosis
• ACR criteria for systemic lupus erythematosis

Clinical decision support system

Clinical decision support systems 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.^[5]

Other diagnostic procedure methods

Other methods that can be used in performing a diagnostic procedure include:

An example of a medical algorithm for assessment and treatment of overweight and obesity.

• Usage of medical algorithms
• An "exhaustive method", in which every possible question is asked and all possible data is collected.^[3]

Diagnostic opinion and its effects

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.

A treatment plan is proposed which may include therapy and follow-up consultations and tests to 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.

Relevant information should be added to the medical record of the patient.

A failure to respond to treatments that would normally work may indicate a need for review of the diagnosis.

Additional types of diagnosis

Sub-types of diagnoses include:

Clinical diagnosis

A diagnosis made on the basis of medical signs and patient-reported symptoms, rather than diagnostic tests

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 characteristics of the pathogen involved.

Radiology diagnosis

A diagnosis based primarily on the results from medical imaging studies. Greenstick fractures are common radiological diagnoses.

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.

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.

Differential diagnosis

A process of identifying all of the possible diagnoses that could be connected to the signs, symptoms, and lab findings, and then ruling out diagnoses until a final determination can be made.

Diagnostic criteria

Designates the combination of signs, symptoms, and test results that the clinician uses to attempt to determine the correct diagnosis. They are standards, normally published by international committees, and they are designed to offer the best sensitivity and specificity possible, respect the presence of a condition, with the state-of-the-art technology.

Prenatal diagnosis

Diagnosis work done before birth

Diagnosis of exclusion

A medical condition whose presence cannot be established with complete confidence from either 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 co-morbidities; the term almost always refers to a diagnosis of a serious mental illness and a substance addiction.

Self-diagnosis

The diagnosis or identification of a medical conditions in oneself. Self-diagnosis is very common and typically accurate for everyday conditions, such as headaches, menstrual cramps, and headlice.

Remote diagnosis

A type of telemedicine that diagnosis a patient without being physically in the same room as the patient.

Nursing diagnosis

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

Overdiagnosis

The diagnosis of "disease" that will never cause symptoms, distress, or death during a patient's lifetime

Wastebasket diagnosis

A vague, or even completely fake, medical or psychiatric label given to the patient or to the medical records department for essentially non-medical reasons, such as to reassure the patient by providing an official-sounding label, to make the provider look effective, or to obtain approval for treatment. This term is also used as a derogatory label for disputed, poorly described, overused, or questionably classified diagnoses, such as pouchitis and senility, or to dismiss diagnoses that amount to overmedicalization, such as the labeling of normal responses to physical hunger as reactive hypoglycemia.

Retrospective diagnosis

The labeling of an illness in a historical figure or specific historical event using modern knowledge, methods and disease classifications.

Overdiagnosis

Main article: Overdiagnosis

Overdiagnosis is the diagnosis of "disease" that will never cause symptoms or death during a patient's lifetime. It is a problem because it turns people into patients unnecessarily and because it can lead to economic waste (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.

Errors in diagnosis

Further information: Medical error

Causes and factors of error in diagnosis are:^[6]

• the manifestation of disease are not sufficiently noticeable
• a disease is omitted from consideration
• too much significance is given to some aspect of the diagnosis
• the condition is a rare disease with symptoms suggestive of many other conditions
• the condition has a rare presentation

Lag time

When making a medical diagnosis, a lag time is a delay in time until a step towards diagnosis of a disease or condition is made. Types of lag times are mainly:

• Onset-to-medical encounter lag time, the time from onset of symptoms until visiting a health care provider^[7]
• Encounter-to-diagnosis lag time, the time from first medical encounter to diagnosis^[7]

History

Main article: History of medical diagnosis

The history of medical diagnosis began in earnest from the days of Imhotep in ancient Egypt and Hippocrates in ancient Greece. In Traditional Chinese Medicine, there are four diagnostic methods: inspection, auscultation-olfaction, interrogation, and palpation.^[8] A Babylonian medical textbook, the Diagnostic Handbook written by Esagil-kin-apli (fl. 1069-1046 BC), introduced the use of empiricism, logic and rationality in the diagnosis of an illness or disease.^[9] The book made use of logical rules in combining observed symptoms on the body of a patient with its diagnosis and prognosis.^[10] Esagil-kin-apli described the symptoms for many varieties of epilepsy and related ailments along with their diagnosis and prognosis.^[11]

The practice of diagnosis continues to be dominated by theories set down in the early 20th century.

See also

Diagnosis codes Diagnosis-related group Diagnostic and Statistical Manual of Mental Disorders Doctor-patient relationship Etiology International Statistical Classification of Diseases and Related Health Problems (ICD)

Medical classification Merck Manual of Diagnosis and Therapy Misdiagnosis and medical error Nosology Pathogenesis Pathology Preimplantation genetic diagnosis

Lists

• List of diseases
• List of disorders
• List of medical symptoms
• Category:Diseases

References

1. ^ "Online Etymology Dictionary". http://www.etymonline.com/index.php?term=diagnosis. 
2. ^ Thompson, C. & Dowding, C. (2009) Essential Decision Making and Clinical Judgement for Nurses.
3. ^ ^{a b c} Making a diagnosis, John P. Langlois, Chapter 10 in Fundamentals of clinical practice (2002). Mark B. Mengel, Warren Lee Holleman, Scott A. Fields. 2nd edition. p.198. ISBN 0-306-46692-9
4. ^ Making a diagnosis, John P. Langlois, Chapter 10 in Fundamentals of clinical practice (2002). Mark B. Mengel, Warren Lee Holleman, Scott A. Fields. 2nd edition. p.204. ISBN 0-306-46692-9
5. ^ Decision support systems. 26 July 2005. 17 Feb. 2009 <http://www.openclinical.org/dss.html>
6. ^ Johnson, P. E.; Duran, A. S.; Hassebrock, F.; Moller, J.; Prietula, M.; Feltovich, P. J.; Swanson, D. B. (1981). "Expertise and Error in Diagnostic Reasoning". Cognitive Science 5 (3): 235–283. doi:10.1207/s15516709cog0503_3.  edit
7. ^ ^{a b} Chan, K.; Felson, D.; Yood, R.; Walker, A. (1994). "The lag time between onset of symptoms and diagnosis of rheumatoid arthritis". Arthritis and rheumatism 37 (6): 814–820. PMID 8003053.  edit
8. ^ Jingfeng, C. (2008). Medicine in China. pp. 1529–1534. doi:10.1007/978-1-4020-4425-0_8500.  edit
9. ^ H. F. J. Horstmanshoff, Marten Stol, Cornelis Tilburg (2004), Magic and Rationality in Ancient Near Eastern and Graeco-Roman Medicine, p. 97-98, Brill Publishers, ISBN 90-04-13666-5.
10. ^ H. F. J. Horstmanshoff, Marten Stol, Cornelis Tilburg (2004), Magic and Rationality in Ancient Near Eastern and Graeco-Roman Medicine, p. 99, Brill Publishers, ISBN 90-04-13666-5.
11. ^ Marten Stol (1993), Epilepsy in Babylonia, p. 5, Brill Publishers, ISBN 90-72371-63-1.

External links

• The Merck Manuals Online Medical Library