In general, diagnosis (plural diagnoses) has two distinct dictionary
definitions. The first definition is "the recognition of a disease or condition
by its outward signs and symptoms", while the second definition is "the analysis
of the underlying physiological/biochemical cause(s) of a disease or condition".
Diagnosis covers a broad spectrum, or spectra, of testing in some form of ;
collective reasoning using such tests is called the method of diagnostics,
leading then to the results of those tests by ideal (ethics) would then be
considered a diagnosis, but not necessarily the correct one.
In medicine, diagnosis or diagnostics is the process of identifying a medical
condition or disease by its signs, symptoms, and from the results of various
diagnostic procedures. The conclusion reached through this process is called a
diagnosis. The term "diagnostic criteria" designates the combination of symptoms
which allows the doctor to ascertain the diagnosis of the respective disease.
Typically, someone with abnormal symptoms will consult a physician, who will
then obtain a history of the patient's illness and examine him for signs of
disease. The physician will formulate a hypothesis of likely diagnoses and in
many cases will obtain further testing to confirm or clarify the diagnosis
before providing treatment.
Medical tests commonly performed are measuring blood pressure, checking the
pulse rate, listening to the heart with a stethoscope, urine tests, fecal tests,
saliva tests, blood tests, medical imaging, electrocardiogram, hydrogen breath
test and occasionally biopsy.
The word diagnosis is derived from the Greek words dia which means "by", and
gnosis which means "knowledge". The verb is diagnose and a person diagnosing
could be considered a diagnostician.
Relationship of diagnosis to medical practice
A physician's job is to know the human body and its functions in terms of
normality (homeostasis). The four cornerstones of diagnostic medicine, each
essential for understanding homeostasis, are: anatomy (the structure of the
human body), physiology (how the body works), pathology (what can go wrong with
the anatomy and physiology) and psychology (thought and behavior). Once the
doctor knows what is normal and can measure the patient's current condition
against those norms, she or he can then determine the patient's particular
departure from homeostasis and the degree of departure. This is called the
diagnosis. Once a diagnosis has been reached, the doctor 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 doctor
educates the patient about the causes, progression, outcomes, and possible
treatments of his ailments, as well as providing advice for maintaining health.
It should be noted however, that medical diagnosis in psychology or psychiatry
is problematic. Apart from the fact that there are differing theoretical views
toward mental conditions and that there are few "lab" tests available for
various major disorders (e.g., clinical depression), 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 as well as
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)
Diagnosis is a fluid process in which the physician responds to information
garnered from the patient and others, from a physical examination of the
patient, and from medical tests performed upon the patient.
The doctor should consider the patient in his 'well' context rather than simply
as a walking medical condition. This entails assessing the socio-political
context of the patient (family, work, stress, beliefs), in addition to the
patient's physical body, as this often offers vital clues to the patient's
condition and its management.
The process of diagnosis begins when the patient consults the doctor and
presents a set of complaints (the symptoms). If the patient is unconscious, this
condition is the de facto complaint. The doctor then obtains further information
from the patient himself (and from those who know him, if present) about the
patient's symptoms, his previous state of health, living conditions, and so
Rather than consider the myriad diseases that could afflict the patient, the
physician narrows down the possibilities to the illnesses likely to account for
the apparent symptoms, making a list of only those conditions that could account
for what is wrong with the patient. These are generally ranked in order of
The doctor then conducts a physical examination of the patient, studies the
patient's medical record, and asks further questions as he goes, in an effort to
rule out as many of the potential conditions as possible. When the list is
narrowed down to a single condition, this is called the differential diagnosis,
and provides the basis for a hypothesis of what is ailing the patient.
Unless the physician is certain of the condition present, further medical tests
are performed or scheduled (such as medical imaging), in part to confirm or
disprove the diagnosis but also to document the patient's status to keep the
patient's medical history up to date. Consultations with other physicians and
specialists in the field may be sought. If unexpected findings are made during
this process, the initial hypothesis may be ruled out and the physician must
then consider other hypotheses.
Despite all of these complexities, most patient consultations are relatively
brief, because many diseases are obvious, or the physician's experience may
enable him to recognize the condition quickly. Another factor is that the
decision trees used for most diagnostic hypothesis testing are relatively short.
Once the physician has completed the diagnosis, he explains the prognosis to the
patient and proposes a treatment plan which includes therapy and follow-up
(further consultations and tests to monitor the condition and the progress of
the treatment, if needed), usually according to the guideline provided by the
medical field on the treatment of the particular illness.
Treatment itself may indicate a need for review of the diagnosis if there is a
failure to respond to treatments that would normally work.
History of medical diagnostics
The history of medical diagnosis began in earnest from the enlightened days of
Hippocrates in ancient Greece but is far from perfect despite the enormous
bounty of information made available by medical research including the
sequencing of the human genome. The practice of diagnosis continues to be
dominated by theories set down in the early 1900s.
Over two thousand years ago, Hippocrates recorded the association between
disease and heredity. In similar fashion, Pythagoras noted the association
between metabolism and heredity (allergy to Fava beans). The medical community,
however, has only recently acknowledged the importance of genetics and its
relevance to mainstream medicine.
The Oslerian ideal
The ideals of William Osler who transformed the practice of medicine in the
early 1900s were based on the principles of the diagnosis and treatment of
disease. According to Osler, the functions of a physician were to be able to
identify disease and its manifestations, understand its mechanisms, how it may
be prevented and how it may be cured. For his medical students he believed that
the best textbook was the patient himself – analysis of morbid anatomy and
pathology were the keys. The Oslerian ideal continues today, as the basis of the
Doctor’s strategy is, "What disease does this patient have and what is the best
way for treatment?" The emphasis is on the classification of the disease in
order to use the remedies available for its effects to be reversed or
ameliorated. The human being in question is representative of a class of people
with this type of disease whereas the biological individuality of this person is
not given any great weight.
The successor to William Osler as Regius Professor at Oxford was Archibald
Garrod. Garrod echoed the observations of his Greek counterparts of two
millennia ago, ...our chemical individualities are due to our chemical merits as
well as our chemical shortcomings; and it is more nearly true to say that the
factors which confer upon us our predispositions to and immunities from various
mishaps which are spoken of as diseases, are inherent in our very chemical
structure; and even in the molecular groupings which confer upon us our
individualities, and which went into the making of the chromosomes from which we
sprang. Considering that the time that he formulated these ideas were the early
1900's, and the knowledge of DNA encoding genes that in turn encoded proteins
responsible for bodily structure and functions not being discovered until some
fifty years later it took some time before medicine could fully appreciate the
fundamental importance of his concept of diagnosis.
Present-day Oslerian practice
Whereas Osler laid the founding principles by which medicine should be
practiced, Garrod placed these principles in a greater context of a chemical
individuality that is inherited and is subject to the mechanisms of evolutionary
selection. The Oslerian ideal of medical practice continues to dominate medical
philosophy today. The patient is a collective of symptoms to be characterized
and analyzed algorithmically in order to draw a diagnosis and subsequently
produce a strategy of treatment. Medicine is about problems based solutions. In
keeping with this philosophy, today's pathology reports provide a momentary
snapshot of the patient's biochemical profile, highlighting the end result of
the disease process.
Influence of DNA technology
Garrod's conception of biological individuality was confirmed with the advent of
the sequencing of the human genome. Finally the subtle relationship between
inheritance, individuality and environment became apparent via the variations
detected in DNA. In each patient's DNA lies a script for how their bodies will
change and become ill as well as how they will handle the assaults of the
environment from the beginning of their life to its end. It is hoped that by
knowing a patient's genes that the biological strengths and weaknesses in
respect to these assaults will be revealed and disease processes can be
predicted before they have the opportunity to manifest. Although knowledge in
this area is far from complete, there are already medical interventions based on
this. More importantly, the physician, forewarned with this knowledge can guide
the patient towards appropriate lifestyle changes to anticipate and mitigate
A disease is an abnormal condition of an organism that impairs bodily functions.
In human beings, "disease" is often used more broadly to refer to any condition
that causes discomfort, dysfunction, distress, social problems, and/or death to
the person afflicted, or similar problems for those in contact with the person.
In this broader sense, it sometimes includes injuries, disabilities, disorders,
syndromes, infections, isolated symptoms, deviant behaviors, and atypical
variations of structure and function, while in other contexts and for other
purposes these may be considered distinguishable categories.
While many diseases are biological processes with observable alterations of
organ function or structure, others primarily involve alterations of behavior.
Classifying a condition as a disease is a social act of valuation, and may
change the social status of the person with the condition (the patient). Some
conditions (known as culture-bound syndromes) are only recognized as diseases
within a particular culture. Sometimes the categorizaton of a condition as a
disease is controversial within the culture.
Causes of disease
Many different factors intrinsic or extrinsic to a person (or plant or animal)
can cause disease. Examples of intrinsic factors are genetic defects or
nutritional deficiencies. An environmental exposure, such as second-hand smoke
is an example of an extrinsic factor. Many diseases result from a combination of
intrinsic and extrinsic factors. For many diseases a cause cannot be identified.
There are many different factors that can cause disease. These can be broadly
categorized into the following categories like social, psychological, chemical
and biological. Some factors may fall into more than one category. Biochemical
causes of disease can be considered as a spectrum where at one extreme disease
is caused entirely by genetic factors (e.g. CAG repeats in the Huntingtin gene
that causes Huntington's Disease) and at the other extreme is caused entirely by
environmental factors. Environmental factors include toxic chemicals (e.g.
acetaldehyde in cigarette smoke and dioxins released from the breakdown of Agent
Orange) and infectious agents (e.g. smallpox virus and poliovirus). In between
these extremes genes (e.g. NOD2/CARD15) and environmental factors (e.g. Gut
microbiota) interact to cause disease, as seen for example in the inflammatory
bowel disease Crohn's Disease (Fig 1, right).
Figure 1. The biochemical basis of disease. Some diseases, not illustrated here,
also have a social and psychological basis.
Absence of the genetic or environmental factors in this case results in disease
not being manifest. Koch's postulates can be used to determine whether a disease
is caused by an infectious agent.
To determine whether a disease is caused by genetic factors, researchers study
the pattern inheritance of the disease in families. This provides qualitative
information about the disease (how it is inherited). A classic example of this
method of research is inheritance of hemophilia in the British Royal Family.
More recently this research has been used to identify the Apoliprotein E (ApoE)
gene as a susceptibility gene for Alzheimer's Disease, though some forms of this
gene - ApoE2 - are associated with a lower susceptibility. To determine to what
extent a disease is caused by genetic factors (quantitative information), twin
studies are used. Monozygotic twins are genetically identical and likely share a
similar environment whereas dizygotic twins are genetically similar and likely
share a similar environment. Thus by comparing the incidence of disease (termed
concordance rate) in monozygotic twins with the incidence of disease in
dizygotic twins, the extent to which genes contribute to disease can be
determined. Candidate disease genes can be identified using a number of methods.
One is to look for mutants of a model organism (e.g. the organisms Mus
musculus,Drosophila melanogaster, Caenhorhabditis elegans,Brachydanio rerio and
Xenopus tropicalis) that have a similar phenotype to the disease being studied.
Another approach is to look for segregation of genes or genetic markers (e.g.
single nucleotide polymorphism or expressed sequence tag)
A large number of SNPs spaced throughout the genome have been identified
recently in a large project called the HapMap project ). The usefulness of the
HapMap project and SNP typing and their relevance to society was covered in the
27 October 2005 issue of the leading international science journal Nature
A large number of genes have been identified that contribute to human disease.
These are available from the US National Library of Medicine, which has an
impressive range of biological science resources available for free online.
Amongst these resources is Online Mendelian Inheritance in Man - OMIM that
provides a very, very comprehensive list of all known human gene mutations
associated with, and likely contributing to, disease. Each article at OMIM is
regularly updated to include the latest scientific research. Additionally, each
article provides a detailed history of the research on a given disease gene,
with links to the research articles. This resource is highly valuable and is
used by the world's top science researchers.
The terms disease, disorder, medical condition are often used interchangeably.
There is no agreed-upon universal distinction between these terms, though some
people do make distinctions in particular contexts.
Medical usage sometimes distinguishes a disease, which has a known specific
cause or causes (called its etiology), from a syndrome, which is a collection of
signs or symptoms that occur together. However, many conditions have been
identified, yet continue to be referred to as "syndromes." Furthermore, numerous
conditions of unknown etiology are referred to as "diseases" in many contexts.
Refractory diseases do not respond to therapy by overcoming the resistance to
Illness, although often used to mean disease, can also refer to a person's
perception of their health, regardless of whether they in fact have a disease. A
person without any disease may feel unhealthy and simply have the perception of
having an illness. Another person may feel healthy with similar perceptions of
perfectly good health. The individual's perception of good health may even
persist with the medical diagnosis of having a disease; for example, such as
dangerously high blood pressure, which may lead to a fatal heart attack or
Pathology is the study of diseases. The subject of systematic classification of
diseases is referred to as nosology. Its cause is referred as its etiology. The
broader body of knowledge about human diseases and their treatments is medicine.
Many similar (and a few of the same) conditions or processes can affect
non-human animals (wild or domestic). The study of diseases affecting animals is
Disease can be thought of as the presence of pathology, which can occur with or
without subjective feelings of being unwell or social recognition of that state.
Illness as the subjective state of "unwellness" can occur independently of, or
in conjunction with, disease or sickness (with sickness the social
classification of someone deemed diseased, which can also occur independently of
the presence or absence of disease or illness (c.f. subjective medical
conditions). Thus, someone with undetected high blood pressure who feels to be
of good health would be diseased, but not ill or sick. Someone with a diagnosis
of late-stage cancer would be diseased, probably feeling quite ill, and
recognized by others as sick. A person incarcerated in a totalitarian
psychiatric hospital for political purposes could arguably be then said to not
be diseased, nor ill, but only classified as sick by the rulers of a society
with which the person did not agree. Having had a bad day after a night of
excess drinking, one might feel ill, but one would not be diseased, nor is it
likely that a boss could be convinced of the sickness.
Transmission of disease
Some diseases such as influenza are contagious or infectious. Infectious
diseases can be transmitted by any of a variety of mechanisms, including
aerosols produced by coughs and sneezes, by bites of insects or other carriers
of the disease, and from contaminated water or food (possibly by faeces or urine
in the sewage), etc. Also, there are sexually transmitted diseases. When
micro-organisms that cannot be spread from person to person might play a role,
some diseases can be prevented with proper nutrition. Other diseases such as
cancer and heart disease are not considered to be caused by infection. The same
is true of mental diseases.
Social significance of disease
Living with disease can be very difficult. The identification of a condition as
a disease, rather than as simply a variation of human structure or function, can
have significant social or economic implications. The controversial recognitions
as diseases of post-traumatic stress disorder, also known as "Soldier's heart,"
"shell shock," and "combat fatigue;" repetitive motion injury or repetitive
stress injury (RSI); and Gulf War syndrome has had a number of positive and
negative effects on the financial and other responsibilities of governments,
corporations and institutions towards individuals, as well as on the individuals
themselves. The social implication of viewing aging as a disease could be
profound, though this classification is not yet widespread.
A condition may be considered to be a disease in some cultures or eras but not
in others. Oppositional-defiant disorder, attention-deficit hyperactivity
disorder, and, increasingly, obesity, are conditions considered to be diseases
in the United States and Canada today, but were not so-considered decades ago
and are not so-considered in some other countries. Lepers were a group of
afflicted individuals who were historically shunned and the term "leper" still
evokes social stigma. Fear of disease can still be a widespread social
phenomena, though not all diseases evoke extreme social stigma.
Sickness confers the social legitimization of certain benefits, such as illness
benefits, work avoidance, and being looked after by others. In return, there is
an obligation on the sick person to seek treatment and work to become well once
more. As a comparison, consider pregnancy, which is not a state interpreted as
disease or sickness by the individual. On the other hand, it is considered by
the medical community as a condition requiring medical care and by society at
large as a condition requiring one's staying at home from work.
In medicine, Diagnostic codes are used to group and identify diseases,
disorders, symptoms, and medical signs, and are used to measure morbidity and
Commonly used diagnosis coding systems
* ICD-9-CM (volumes 1 and 2 only. Volume 3 contains Procedure codes)
* ICPC-2 (Also includes reasons for encounter (RFE), Procedure codes and process
* Diagnostic and Statistical Manual of Mental Disorders or DSM-IV (psychiatric
* Mendelian Inheritance in Man (genetic diseases only)
In medicine, differential diagnosis (sometimes abbreviated DDx or ΔΔ) is the
systematic method physicians use to identify the disease causing a patient's
Before a medical condition can be treated, it must be identified. In the process
of listening to a patient's complaints, examining the patient, and taking the
patient's personal, family and social history, the physician makes a mental list
of the most likely causes. The doctor asks additional questions and performs
tests to eliminate possibilities until he or she is satisfied that the single
most likely cause has been identified.
Once a working diagnosis is reached, the physician prescribes a therapy. If the
patient's condition does not improve, the diagnosis must be reassessed. The
method of differential diagnosis was first suggested for use in the diagnosis of
mental disorders by Emil Kraepelin. It is more systematic than the old-fashioned
method of diagnosis by gestalt (impression).
The term differential diagnosis also refers to medical information specially
organized to aid in diagnosis, particularly a list of the most common causes of
a given symptom, annotated with advice on how to narrow down the list.
In popular culture
The term and methodology have been recently popularized by the television series
House, MD, where Dr. Gregory House, a Certified Diagnostician, uses differential
diagnosis to solve medical mysteries
The term diagnosis of exclusion (per exclusionem) refers to a medical condition
whose presence cannot be established with complete confidence from examination
or testing. Diagnosis is therefore by elimination of other reasonable
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.
Perhaps 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 pre-requisite for making a functional 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. As a specific diagnosis
cannot be confirmed a fall back position is to exclude that group of known
causes that may cause a similar clinical presentation
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