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
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 ...
, 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
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 m ...
(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
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, co ...
research.
Etymology
The word phenotype comes . Normally it refers to the presentation of a trait in an individual, but in this case it means the presentation of a
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, bioch ...
.
See also
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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 investiga ...
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Clinical disease
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Component causes
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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 o ...
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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 ...
References
Clinical medicine
Symptoms
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