Phenotype (clinical medicine)

In a nosological sense, the term phenotype can be used in clinical medicine for speaking about the presentation of a disease.[1] 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 COPD means "a single or combination of disease attributes that describe differences between individuals with COPD as they relate to clinically meaningful outcomes",[2] but nearly all specialities use this meaning in some way, like in asthma research.[3]

See also

References

  1. ↑ Richard H. Scheuermann, Toward an Ontological Treatment of Disease and Diagnosis, Summit on Translat Bioinforma. 2009; 2009: 116–120. 2009 Mar 1. PMCID: PMC3041577
  2. ↑ Miravitlles, Clinical phenotypes of COPD: identification, definition and implications for guidelines. Arch Bronconeumol. 2012 Mar;48(3):86-98. doi: 10.1016/j.arbres.2011.10.007. Epub 2011 Dec 22.
  3. ↑ Bel EH. Clinical phenotypes of asthma, Curr Opin Pulm Med. 2004 Jan;10(1):44-50.


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