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Disease Ontology
The Disease Ontology (DO) is a formal ontology of human disease. ThDisease Ontology projectis hosted at thInstitute for Genome Sciencesat the University of Maryland School of Medicine. The Disease Ontology project was initially developed in 2003 at Northwestern University to address the need for a purpose-built ontology that covers the full spectrum of disease concepts annotated within biomedical repositories within an ontological framework that is extensible to meet community needs. The Disease Ontology is an OBO ( Open Biomedical Ontologies) Foundry ontology. Disease Ontology Identifiers (DOIDs) consist of the prefix DOID: followed by number, for example, Alzheimer's disease has the stable identifieDOID:10652 DO is cross-referenced in several resources such as UniProt. Example term The Disease Ontology entry for motor neuron disease in OBO format is given below, showing the links to other classification schemes, including ICD-9, ICD-10, MeSH, SNOMED and UMLS. :id: DOID:231 ...
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Ontology (information Science)
In computer science and information science, an ontology encompasses a representation, formal naming, and definition of the categories, properties, and relations between the concepts, data, and entities that substantiate one, many, or all domains of discourse. More simply, an ontology is a way of showing the properties of a subject area and how they are related, by defining a set of concepts and categories that represent the subject. Every academic discipline or field creates ontologies to limit complexity and organize data into information and knowledge. Each uses ontological assumptions to frame explicit theories, research and applications. New ontologies may improve problem solving within that domain. Translating research papers within every field is a problem made easier when experts from different countries maintain a controlled vocabulary of jargon between each of their languages. For instance, the definition and ontology of economics is a primary concern in Marxist econo ...
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ICD-9
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 authority for health within the United Nations System. The ICD is originally designed as a health care classification system, providing a system of diagnostic codes for classifying diseases, including nuanced classifications of a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or disease. This system is designed to map health conditions to corresponding generic categories together with specific variations, assigning for these a designated code, up to six characters long. Thus, major categories are designed to include a set of similar diseases. The ICD is published by the WHO and used worldwide for morbidity and mortality statistics, reimbursement systems, and automated de ...
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Ontology (information Science)
In computer science and information science, an ontology encompasses a representation, formal naming, and definition of the categories, properties, and relations between the concepts, data, and entities that substantiate one, many, or all domains of discourse. More simply, an ontology is a way of showing the properties of a subject area and how they are related, by defining a set of concepts and categories that represent the subject. Every academic discipline or field creates ontologies to limit complexity and organize data into information and knowledge. Each uses ontological assumptions to frame explicit theories, research and applications. New ontologies may improve problem solving within that domain. Translating research papers within every field is a problem made easier when experts from different countries maintain a controlled vocabulary of jargon between each of their languages. For instance, the definition and ontology of economics is a primary concern in Marxist econo ...
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Motor Neuron Disease
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. ''Limb-onset ALS'' begins with weakness in the arms or legs, while ''bulbar-onset ALS'' begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure. Most cases of ALS (abou ...
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Unified Medical Language System
The Unified Medical Language System (UMLS) is a compendium of many controlled vocabularies in the biomedical sciences (created 1986). It provides a mapping structure among these vocabularies and thus allows one to translate among the various terminology systems; it may also be viewed as a comprehensive thesaurus and ontology of biomedical concepts. UMLS further provides facilities for natural language processing. It is intended to be used mainly by developers of systems in medical informatics. UMLS consists of Knowledge Sources (databases) and a set of software tools. The UMLS was designed and is maintained by the US National Library of Medicine, is updated quarterly and may be used for free. The project was initiated in 1986 by Donald A.B. Lindberg, M.D., then Director of the Library of Medicine, and directed by Betsy Humphreys. Purpose and applications The number of biomedical resources available to researchers is enormous. Often this is a problem due to the large volume o ...
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Systematized Nomenclature Of Medicine
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, procedures, microorganisms, substances, etc. It allows a consistent way to index, store, retrieve, and aggregate medical data across specialties and sites of care. Although now international, SNOMED was started in the U.S. by the College of American Pathologists (CAP) in 1973 and revised into the 1990s. In 2002 CAP's SNOMED Reference Terminology (SNOMED RT) was merged with, and expanded by, the National Health Service's Clinical Terms Version 3 (previously known as the Read codes) to produce SNOMED CT. Versions of SNOMED released prior to 2001 were based on a multiaxial, hierarchical classification system. As in any such system, a disease may be located in a body organ (anatomy), which results in a code in a topography axis and may lead to m ...
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Medical Subject Headings
Medical Subject Headings (MeSH) is a comprehensive controlled vocabulary for the purpose of indexing journal articles and books in the life sciences. It serves as a thesaurus that facilitates searching. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed article database and by NLM's catalog of book holdings. MeSH is also used by ClinicalTrials.gov registry to classify which diseases are studied by trials registered in ClinicalTrials. MeSH was introduced in the 1960s, with the NLM's own index catalogue and the subject headings of the Quarterly Cumulative Index Medicus (1940 edition) as precursors. The yearly printed version of MeSH was discontinued in 2007; MeSH is now available only online. It can be browsed and downloaded free of charge through PubMed. Originally in English, MeSH has been translated into numerous other languages and allows retrieval of documents from different origins. Structure MeSH vocabulary is divi ...
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ICD-10
ICD-10 is the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. Work on ICD-10 began in 1983, became endorsed by the Forty-third World Health Assembly in 1990, and was first used by member states in 1994. It was replaced by ICD-11 on January 1, 2022. While WHO manages and publishes the base version of the ICD, several member states have modified it to better suit their needs. In the base classification, the code set allows for more than 14,000 different codes and permits the tracking of many new diagnoses compared to the preceding ICD-9. Through the use of optional sub-classifications, ICD-10 allows for specificity regarding the cause, manifestation, location, severity, and type of injury or disease. The ad ...
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Motor Neuron Disease
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. ''Limb-onset ALS'' begins with weakness in the arms or legs, while ''bulbar-onset ALS'' begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure. Most cases of ALS (abou ...
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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 are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, dysfunction, distress, social problems, or death to the person affected, 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 structur ...
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UniProt
UniProt is a freely accessible database of protein sequence and functional information, many entries being derived from genome sequencing projects. It contains a large amount of information about the biological function of proteins derived from the research literature. It is maintained by the UniProt consortium, which consists of several European bioinformatics organisations and a foundation from Washington, DC, United States. The UniProt consortium The UniProt consortium comprises the European Bioinformatics Institute (EBI), the Swiss Institute of Bioinformatics (SIB), and the Protein Information Resource (PIR). EBI, located at the Wellcome Trust Genome Campus in Hinxton, UK, hosts a large resource of bioinformatics databases and services. SIB, located in Geneva, Switzerland, maintains the ExPASy (Expert Protein Analysis System) servers that are a central resource for proteomics tools and databases. PIR, hosted by the National Biomedical Research Foundation (NBRF) at the Geor ...
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Alzheimer's Disease
Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term memory, remembering recent events. As the disease advances, symptoms can include primary progressive aphasia, problems with language, Orientation (mental), disorientation (including easily getting lost), mood swings, loss of motivation, self-neglect, and challenging behaviour, behavioral issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the typical life expectancy following diagnosis is three to nine years. The cause of Alzheimer's disease is poorly understood. There are many environmental and genetic risk factors associated with its development. The strongest genetic risk factor is from an alle ...
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