Nosology
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Nosology () is the branch of
medical science Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care practic ...
that deals with the classification of diseases. Fully classifying a medical condition requires knowing its cause (and that there is only one cause), the effects it has on the body, the symptoms that are produced, and other factors. For example, influenza is classified as an infectious disease because it is caused by a virus, and it is classified as a respiratory infection because the virus infects and damages certain tissues in the respiratory tract. The more that is known about the disease, the more ways the disease can be classified nosologically. Nosography is a description whose primary purpose is enabling a diagnostic label to be put on the situation. As such, a nosographical entity need not have a single cause. For example, inability to speak due to advanced dementia and an inability to speak due to a stroke could be nosologically different but nosographically the same.


Types of classification

Diseases may be classified by cause,
pathogenesis Pathogenesis is the process by which a disease or disorder develops. It can include factors which contribute not only to the onset of the disease or disorder, but also to its progression and maintenance. The word comes from Greek πάθος ''pat ...
(
mechanism Mechanism may refer to: * Mechanism (engineering), rigid bodies connected by joints in order to accomplish a desired force and/or motion transmission *Mechanism (biology), explaining how a feature is created *Mechanism (philosophy), a theory that ...
by which the disease progresses), or by symptom(s). Alternatively, diseases may be classified according to the
organ system An organ system is a biological system consisting of a group of organs that work together to perform one or more functions. Each organ has a specialized role in a plant or animal body, and is made up of distinct tissues. Plants Plants have ...
involved, though this is often complicated since many diseases affect more than one organ. A chief difficulty in nosology is that diseases often cannot be defined and classified clearly, especially when cause or pathogenesis are unknown. Thus diagnostic terms often only reflect a symptom or set of symptoms (
syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...
). Traditionally diseases were defined as
syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...
s by their symptoms. When more information is available, they are also defined by the damage they produce. When cause is known, they are better defined by their cause, though still important are their characteristics. This leads to a branching differentiation in which a clinical syndrome (pattern of signs and symptoms) can come to be understood as a nonspecific finding shared by a group of disease entities or
endotype An endotype is a subtype of a health condition, which is defined by a distinct functional or pathobiological mechanism. This is distinct from a phenotype, which is any observable characteristic or trait of a disease, such as development, biochem ...
s. For example, concepts such as
murrain Murrain (also known as distemper) is an antiquated term for various infectious diseases affecting cattle and sheep. The word originates from Middle English ''moreine'' or ''moryne'', as a derivative of Latin ''mori'' "to die". The word ''murra ...
and
the grippe Influenza, commonly known as "the flu", is an infectious disease caused by influenza viruses. Symptoms range from mild to severe and often include fever, runny nose, sore throat, muscle pain, headache, coughing, and fatigue. These symptoms ...
that were formerly undifferentiable to humans and thus understood as a single disease later can be logically unraveled as separate diseases with similar
clinical presentation In a physical examination, medical examination, or clinical examination, a medical practitioner examines a patient for any possible medical signs or symptoms of a medical condition. It generally consists of a series of questions about the patie ...
s. Thus, nosology is dynamic, reclassifying as science advances. The advent of
molecular biology Molecular biology is the branch of biology that seeks to understand the molecular basis of biological activity in and between cells, including biomolecular synthesis, modification, mechanisms, and interactions. The study of chemical and physi ...
brought a further reclassification potential with the concept of molecularly defined diseases, defined by their molecular characteristics. This concept was introduced in 1949, with the seminal paper, " Sickle Cell Anemia, a Molecular Disease", in ''Science'' magazine, Linus Pauling,
Harvey Itano Harvey Akio Itano (November 3, 1920 – May 8, 2010) was an American biochemist best known for his work on the molecular basis of sickle cell anemia and other diseases. In collaboration with Linus Pauling, Itano used electrophoresis to demonstra ...
and their collaborators laid the groundwork for establishing the field of molecular medicine. Molecular medicine, in concert with genetics and genomics as aspects of molecular biology, provided new instances of the theme that clinical presentations that humans formerly interpreted as a single disease can be subclassified into a group of disease entities or endotypes. For example, many
OMIM Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM ...
database entries show the pattern of disease name XYZ with types identified as XYZ1 (involving sequence variants in gene A), XYZ2 (involving sequence variants in gene B), XYZ3 (involving sequence variants in gene C), XYZ4 (involving sequence variants in both genes B and C), and so on.


Coding systems

Several classifications of diseases have been historically proposed, and normally all of them assign a code to every supported disease. Some of them codify diseases following the path of the classification tree, and others like SNOMED use a multifactor classification system. The most known coding system is the
World Health Organization The World Health Organization (WHO) is a specialized agency of the United Nations responsible for international public health. The WHO Constitution states its main objective as "the attainment by all peoples of the highest possible level of ...
ICD-Series, but there are other accepted classifications like
DOCLE DOCLE (Doctor Command Language), is a non-numeric health coding and medical classification system. The DOCLE system is used in Health Communication Network's electronic medical record and patient management software package, Medical Director. Medic ...
,
NANDA Nanda may refer to: Indian history and religion * Nanda Empire, ruled by the Nanda dynasty, an Indian royal dynasty ruling Magadha in the 4th century BCE ** Mahapadma Nanda, first Emperor of the Nanda Empire ** Dhana Nanda (died c. 321 BCE), last ...
or
SNOMED The Systematized Nomenclature of Medicine (SNOMED) is a systematic, computer-processable collection of medical terms, in human and veterinary medicine, to provide codes, terms, synonyms and definitions which cover anatomy, diseases, findings, pr ...
. Historically there were others like the
Berkson Coding System Berkson is a surname. Notable people with the surname include: * Joseph Berkson (1899–1982), American physicist ** Berkson's paradox (or Berkson's fallacy) **Berkson error model The Berkson error model is a description of random error (or misclas ...
that are not maintained anymore. There are also coding systems for symptoms present in the diseases and biological findings. They are normally included in medical dictionaries, also with a codification system. Some of them are
MeSH A mesh is a barrier made of connected strands of metal, fiber, or other flexible or ductile materials. A mesh is similar to a web or a net in that it has many attached or woven strands. Types * A plastic mesh may be extruded, oriented, exp ...
(Medical Subject Headings),
COSTART The Coding Symbols for a Thesaurus of Adverse Reaction Terms (COSTART) was developed by the United States Food and Drug Administration (FDA) for the coding, filing and retrieving of post-marketing adverse reaction reports. COSTART provides a meth ...
(Coding Symbols for Thesaurus of Adverse Reaction Terms) or MedDRA (Medical Dictionary for Regulatory Activities) Other systems like Current Procedural Terminology do not deal directly with diseases but with the related procedures.


Extended nosology and general medical conditions

In a wide sense, nosology deals not only with diseases, but with any kind of
medical condition A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...
, like
injuries An injury is any physiological damage to living tissue caused by immediate physical stress. An injury can occur intentionally or unintentionally and may be caused by blunt trauma, penetrating trauma, burning, toxic exposure, asphyxiation, or o ...
,
lesions A lesion is any damage or abnormal change in the tissue of an organism, usually caused by disease or trauma. ''Lesion'' is derived from the Latin "injury". Lesions may occur in plants as well as animals. Types There is no designated classifi ...
or disorders. Medical conditions, like diseases, can be defined by cause,
pathogenesis Pathogenesis is the process by which a disease or disorder develops. It can include factors which contribute not only to the onset of the disease or disorder, but also to its progression and maintenance. The word comes from Greek πάθος ''pat ...
(
mechanism Mechanism may refer to: * Mechanism (engineering), rigid bodies connected by joints in order to accomplish a desired force and/or motion transmission *Mechanism (biology), explaining how a feature is created *Mechanism (philosophy), a theory that ...
by which the disease is caused), or by a collection of symptoms,
medical sign Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showi ...
s and
biomarker In biomedical contexts, a biomarker, or biological marker, is a measurable indicator of some biological state or condition. Biomarkers are often measured and evaluated using blood, urine, or soft tissues to examine normal biological processes, p ...
s, particularly when the other two definitions are not available (
idiopathic An idiopathic disease is any disease with an unknown cause or mechanism of apparent spontaneous origin. From Greek ἴδιος ''idios'' "one's own" and πάθος ''pathos'' "suffering", ''idiopathy'' means approximately "a disease of its own kin ...
diseases). From a nosological point of view, medical conditions can be divided in disorders, diseases, syndromes, lesions and injuries, each one with some specific meaning, as listed at '' Disease § Terminology''.


History

Ancient medical treatises had a variety of different ways of classifying and grouping illnesses. Chinese texts like the ''
Huangdi Neijing ''Huangdi Neijing'' (), literally the ''Inner Canon of the Yellow Emperor'' or ''Esoteric Scripture of the Yellow Emperor'', is an ancient Chinese medical text or group of texts that has been treated as a fundamental doctrinal source for Chines ...
'' categorized diseases by which of the atmospheric influences was believed to be responsible for them. Many ancient Greek, Mesopotamian, Roman, and Egyptian authors categorized diseases by the body parts they affected, while others divided diseases into
acute Acute may refer to: Science and technology * Acute angle ** Acute triangle ** Acute, a leaf shape in the glossary of leaf morphology * Acute (medicine), a disease that it is of short duration and of recent onset. ** Acute toxicity, the adverse eff ...
or chronic illnesses. Mental disorders were classified into categories like mania and
paranoia Paranoia is an instinct or thought process that is believed to be heavily influenced by anxiety or fear, often to the point of delusion and irrationality. Paranoid thinking typically includes persecutory beliefs, or beliefs of conspiracy co ...
by
Hippocrates Hippocrates of Kos (; grc-gre, Ἱπποκράτης ὁ Κῷος, Hippokrátēs ho Kôios; ), also known as Hippocrates II, was a Greek physician of the classical period who is considered one of the most outstanding figures in the history o ...
, and this system was utilized by later authors like Najib ad-Din Samarqandi. Many popular ancient disease classification systems largely relied upon
humorism Humorism, the humoral theory, or humoralism, was a system of medicine detailing a supposed makeup and workings of the human body, adopted by Ancient Greek and Roman physicians and philosophers. Humorism began to fall out of favor in the 1850s ...
, which carried over into medieval times. Early attempts to develop more comprehensive approaches to the classification of diseases were made by
Jean Fernel Jean François Fernel ( Latinized as Ioannes Fernelius; 1497 – 26 April 1558) was a French physician who introduced the term "physiology" to describe the study of the body's function. He was the first person to describe the spinal canal. The l ...
in the 16th century. Early modern nosological efforts grouped
disease A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...
s by their symptoms, whereas modern systems focus on grouping diseases by the
anatomy Anatomy () is the branch of biology concerned with the study of the structure of organisms and their parts. Anatomy is a branch of natural science that deals with the structural organization of living things. It is an old science, having it ...
and cause involved. In the 17th century, the English physician
Thomas Sydenham Thomas Sydenham (10 September 1624 – 29 December 1689) was an English physician. He was the author of ''Observationes Medicae'' which became a standard textbook of medicine for two centuries so that he became known as 'The English Hippocrate ...
was the first to propose a syndrome-based classification of diseases. For Sydenham a disease and a syndrome were equivalent concepts. In the 18th century, the
taxonomist In biology, taxonomy () is the scientific study of naming, defining ( circumscribing) and classifying groups of biological organisms based on shared characteristics. Organisms are grouped into taxa (singular: taxon) and these groups are give ...
Carl Linnaeus Carl Linnaeus (; 23 May 1707 – 10 January 1778), also known after his Nobility#Ennoblement, ennoblement in 1761 as Carl von Linné#Blunt, Blunt (2004), p. 171. (), was a Swedish botanist, zoologist, taxonomist, and physician who formalise ...
, Francois Boissier de Sauvages, and psychiatrist
Philippe Pinel Philippe Pinel (; 20 April 1745 – 25 October 1826) was a French physician, precursor of psychiatry and incidentally a zoologist. He was instrumental in the development of a more humane psychological approach to the custody and care of ps ...
developed an early classification of physical illnesses. In the late 19th century,
Emil Kraepelin Emil Wilhelm Georg Magnus Kraepelin (; ; 15 February 1856 – 7 October 1926) was a German psychiatrist. H. J. Eysenck's ''Encyclopedia of Psychology'' identifies him as the founder of modern scientific psychiatry, psychopharmacology and psych ...
and then
Jacques Bertillon Jacques Bertillon (11 November 1851 – 4 July 1922) was a French statistician and demographer. Born in Paris, Bertillon was the son of statistician Louis Bertillon and the older brother of Alphonse Bertillon. He was educated as a physicia ...
developed their own nosologies. Bertillon's work, classifying causes of
death Death is the irreversible cessation of all biological functions that sustain an organism. For organisms with a brain, death can also be defined as the irreversible cessation of functioning of the whole brain, including brainstem, and brain ...
, was a precursor of the modern code system, the
International Classification of Diseases The International Classification of Diseases (ICD) is a globally used diagnostic tool for epidemiology, health management and clinical purposes. The ICD is maintained by the World Health Organization (WHO), which is the directing and coordinating ...
.


Applications

* Nosology is used extensively in
public health Public health is "the science and art of preventing disease, prolonging life and promoting health through the organized efforts and informed choices of society, organizations, public and private, communities and individuals". Analyzing the det ...
, to allow
epidemiological Epidemiology is the study and analysis of the distribution (who, when, and where), patterns and determinants of health and disease conditions in a defined population. It is a cornerstone of public health, and shapes policy decisions and evidenc ...
studies of public health issues. Analysis of
death certificate A death certificate is either a legal document issued by a medical practitioner which states when a person died, or a document issued by a government civil registration office, that declares the date, location and cause of a person's death, as ...
s requires nosological coding of causes of death. * Nosological classifications are used in medical administration, such as filing of health insurance claims, and patient records.


See also

* Clinical coder *
Diagnosis code In health care, diagnosis codes are used as a tool to group and identify diseases, disorders, symptoms, poisonings, adverse effects of drugs and chemicals, injuries and other reasons for patient encounters. Diagnostic coding is the translation of w ...
* Differential diagnosis * International Statistical Classification of Diseases and Related Health Problems (ICD) ** ICD-10 (ICD 10th Revision) *
Medical classification A medical classification is used to transform descriptions of medical diagnoses or procedures into standardized statistical code in a process known as clinical coding. Diagnosis classifications list diagnosis codes, which are used to track diseas ...
*
Pathology Pathology is the study of the causes and effects of disease or injury. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in ...
(study of disease) * :Diseases and disorders (Wikipedia's categorization of diseases) * Symptomatology – study of individual symptoms


References


Further reading

*
C. S. Herrman"The Bipolar Spectrum"
SSRN (Social Science Research Network, 5 August 2010)


External links

{{Commons category
International Classification of Diseases (ICD-10)
by the
World Health Organization The World Health Organization (WHO) is a specialized agency of the United Nations responsible for international public health. The WHO Constitution states its main objective as "the attainment by all peoples of the highest possible level of ...
Medical terminology