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Summit on Translat Bioinforma. 2009 Mar 1;2009:116-20.

Toward an ontological treatment of disease and diagnosis.

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  • 1Department of Pathology and Division of Biomedical Informatics, University of Texas Southwestern Medical Center, Dallas, TX;


Many existing biomedical vocabulary standards rest on incomplete, inconsistent or confused accounts of basic terms pertaining to diseases, diagnoses, and clinical phenotypes. Here we outline what we believe to be a logically and biologically coherent framework for the representation of such entities and of the relations between them. We defend a view of disease as involving in every case some physical basis within the organism that bears a disposition toward the execution of pathological processes. We present our view in the form of a list of terms and definitions designed to provide a consistent starting point for the representation of both disease and diagnosis in information systems in the future.

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