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Clinical Phenotype
In a nosological sense, the term phenotype can be used in clinical medicine for speaking about the presentation of a disease. The complementary concept in this regard is endotype, which refers to the pathogenesis of the disease ignoring its presentation. In this context, a phenotype would be any observable characteristic or trait of a disease, such as morphology, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. A clinical phenotype would be the presentation of a disease in a given individual. Some organizations have their own specialised meaning. For example, the term 'phenotype' in the field of chronic obstructive pulmonary disease (COPD) means "a single or combination of disease attributes that describe differences between individuals with COPD as they relate to clinically meaningful outcomes", but nearly all specialities use this meaning in some way, like in asthma research. Etymology The word phenotype comes . Normall ...
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Nosology
Nosology () is the branch of medical science 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 b ...
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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, biochemical or physiological properties without any implication of a mechanism. It is envisaged that patients with a specific endotype present themselves within phenotypic clusters of diseases. One example is asthma, which is considered to be a syndrome, consisting of a series of endotypes. This is related to the concept of disease entity. Disease entity The main concept in nosology is the disease entity. Normally there are two ways to define a disease entity: Manifestational criteria and causal criteria. * Manifestational criteria. These are a set of criteria based on signs, symptoms and laboratory findings that define a disease. They define a disease by its symptoms and medical findings. * Causal criteria. These are a causal chain of events t ...
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Chronic Obstructive Pulmonary Disease
Chronic obstructive pulmonary disease (COPD) is a type of progressive lung disease characterized by long-term respiratory symptoms and airflow limitation. The main symptoms include shortness of breath and a cough, which may or may not produce mucus. COPD progressively worsens, with everyday activities such as walking or dressing becoming difficult. While COPD is incurable, it is preventable and treatable. The two most common conditions of COPD are emphysema and chronic bronchitis and they have been the two classic COPD phenotypes. Emphysema is defined as enlarged airspaces ( alveoli) whose walls have broken down resulting in permanent damage to the lung tissue. Chronic bronchitis is defined as a productive cough that is present for at least three months each year for two years. Both of these conditions can exist without airflow limitation when they are not classed as COPD. Emphysema is just one of the structural abnormalities that can limit airflow and can exist without ai ...
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Asthma
Asthma is a long-term inflammatory disease of the airways of the lungs. It is characterized by variable and recurring symptoms, reversible airflow obstruction, and easily triggered bronchospasms. Symptoms include episodes of wheezing, coughing, chest tightness, and shortness of breath. These may occur a few times a day or a few times per week. Depending on the person, asthma symptoms may become worse at night or with exercise. Asthma is thought to be caused by a combination of genetic and environmental factors. Environmental factors include exposure to air pollution and allergens. Other potential triggers include medications such as aspirin and beta blockers. Diagnosis is usually based on the pattern of symptoms, response to therapy over time, and spirometry lung function testing. Asthma is classified according to the frequency of symptoms, forced expiratory volume in one second (FEV1), and peak expiratory flow rate. It may also be classified as atopic or non-atopic, ...
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Disease Entity
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, biochemical or physiological properties without any implication of a mechanism. It is envisaged that patients with a specific endotype present themselves within phenotypic clusters of diseases. One example is asthma, which is considered to be a syndrome, consisting of a series of endotypes. This is related to the concept of disease entity. Disease entity The main concept in nosology is the disease entity. Normally there are two ways to define a disease entity: Manifestational criteria and causal criteria. * Manifestational criteria. These are a set of criteria based on signs, symptoms and laboratory findings that define a disease. They define a disease by its symptoms and medical findings. * Causal criteria. These are a causal chain of events ...
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Clinical Case Definition
In epidemiology, a clinical case definition, a clinical definition, or simply a case definition lists the clinical criteria by which public health professionals determine whether a person's illness is included as a ''case'' in an outbreak investigation—that is, whether a person is considered directly affected by an outbreak. Absent an outbreak, case definitions are used in the surveillance of public health in order to categorize those conditions present in a population (e.g., incidence and prevalence). How are they used A case definition defines a case by placing limits on time, person, place, and shared definition with data collection of the phenomenon being studied. Time criteria may include all cases of a disease identified from, for example, January 1, 2008 to March 1, 2008. Person criteria may include age, gender, ethnicity, and clinical characteristics such as symptoms (e.g. cough and fever) and the results of clinical tests (e.g. pneumonia on chest X-ray). Place criteria w ...
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Clinical Disease
In epidemiology, a clinical case definition, a clinical definition, or simply a case definition lists the clinical criteria by which public health professionals determine whether a person's illness is included as a ''case'' in an outbreak investigation—that is, whether a person is considered directly affected by an outbreak. Absent an outbreak, case definitions are used in the surveillance of public health in order to categorize those conditions present in a population (e.g., incidence and prevalence). How are they used A case definition defines a case by placing limits on time, person, place, and shared definition with data collection of the phenomenon being studied. Time criteria may include all cases of a disease identified from, for example, January 1, 2008 to March 1, 2008. Person criteria may include age, gender, ethnicity, and clinical characteristics such as symptoms (e.g. cough and fever) and the results of clinical tests (e.g. pneumonia on chest X-ray). Place criteria w ...
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Component Causes
A component cause of a disease is an event required for the disease to develop. Given a disease or medical condition, there is a causality chain of events from the first event to the appearance of the clinical disease In epidemiology, a clinical case definition, a clinical definition, or simply a case definition lists the clinical criteria by which public health professionals determine whether a person's illness is included as a ''case'' in an outbreak investiga ... A cause of a disease event is an event that preceded the disease event in a disease causal chain. Without this antecedent event the disease event either would not have occurred at all or would not have occurred until some later time. However, no specific event is sufficient by itself to produce disease. Hence such an event is a component of a sufficient cause. See also * Sufficient cause of the disease. References External linksRothman and Greenland Cause (medicine) {{disease-stub ...
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Heterogeneous Condition
A heterogeneous medical condition or heterogeneous disease is a medical term referring to a medical condition with several etiologies (root causes), such as hepatitis or diabetes. Medical conditions are normally defined pathologically (i.e. based on the state of the patient), as in "liver inflammation," or clinically (i.e. based on the apparent symptoms of the patient), as in "excessive urination," and not etiologically (i.e. based on the underlying causes of the symptoms), and so it is not unusual for conditions to have multiple etiologies. Heterogeneous conditions are sometimes contrasted with homogeneous conditions, which have the same root cause for all patients in a given group. Heterogeneous conditions are often divided into endotypes based on etiology. Endotype An endotype is a subtype of a 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 a ...
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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 σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ...
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Clinical Medicine
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 practices evolved to maintain and restore health by the prevention and treatment of illness. Contemporary medicine applies biomedical sciences, biomedical research, genetics, and medical technology to diagnose, treat, and prevent injury and disease, typically through pharmaceuticals or surgery, but also through therapies as diverse as psychotherapy, external splints and traction, medical devices, biologics, and ionizing radiation, amongst others. Medicine has been practiced since prehistoric times, and for most of this time it was an art (an area of skill and knowledge), frequently having connections to the religious and philosophical beliefs of local culture. For example, a medicine man would apply herbs and say prayers for healing, or an ancie ...
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