Toward an Ontological Treatment of Disease and Diagnosis

In Proceedings of the 2009 AMIA Summit on Translational Bioinformatics. American Medical Informatics Association (2009)
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Abstract

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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Barry Smith
University at Buffalo