Chapter Overview
The description of concepts in the biomedical domain spans levels of precision, complexity, implicit knowledge, and breadth of application that makes the knowledge representation problem more challenging than that in virtually any other domain. This chapter reviews some of this breadth in the form of use-cases, and highlights some of the challenges confronted, including variability among the properties of terminologies, classifications, and ontologies. Special challenges arise at the semantic boundary between information and terminology models, which are not resolvable on one side of either boundary. The problems of aggregation are considered, together with the requirement for rule-based logic when mapping information described using detailed terminologies to high-level classifications. Finally, the challenge of semantic interoperability, arguably the goal of all standards efforts, is explored with respect to medical concept representation.
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Suggested Readings
Baader, F., Calvanese, D., McGuinness, D. L. et al. (Eds.) (2002) The Description Logic Handbook: Theory, Implementation and Applications, Cambridge University Press.
Rector, A. L. (1999). “Clinical Terminology: Why is it so Hard?” Methods of Information in Medicine, 38(4–5), 239–252.
Chute, C. G. (2000). “Clinical Classification and Terminology: Some History and Current Observations,” Journal of the American Medical Informatics Association, 7(3), 298–303.
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Chute, C.G. (2005). Medical Concept Representation. In: Chen, H., Fuller, S.S., Friedman, C., Hersh, W. (eds) Medical Informatics. Integrated Series in Information Systems, vol 8. Springer, Boston, MA. https://doi.org/10.1007/0-387-25739-X_6
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DOI: https://doi.org/10.1007/0-387-25739-X_6
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