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The Ontology of Medical Terminological Systems: Towards the Next Generation of Medical Ontologies

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Book cover Theory and Applications of Ontology: Computer Applications

Abstract

Integrating, processing and applying the rapidly expanding information generated in medicine, bio-medicine and biology is one of most challenging problems facing research in these fields today. As the volumes of experimental data and knowledge increases, there is a growing need for supporting formal analyses of these data and pre-processing knowledge for further use in solving problems and stating hypotheses. Achieving these goals requires the precise and formal characterization of biological and biomedical data and knowledge, as well as their correct representation in computational form. This chapter presents a critical analysis of the current situation, particularly with regard to the significance of logic, artificial intelligence and philosophy for ontology research. in the area of medical ontologies. A broader framework is needed to analyze and represent the relevant phenomena occurring in the field of terminologies and ontologies. This framework should be based on logic, artificial intelligence, linguistics and philosophy. Logic contributes to a rigorous formalization of biomedical content, linguistics plays a role in the analysis of natural languages texts, artificial intelligence is relevant for knowledge representation, inference procedures and integration methods, and, finally, philosophical ontology provides a framework for the categorization of the world.

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Notes

  1. 1.

    The notion “unit of thought“ is very vague. This and similar notions, such as “epistemic state”, “perception”, “mental state”, “cognitive state” and “meaning” belong to the mental-psychological stratum, whose investigation is a subject for future research (Albertazzi, 2001; Albertazzi, 2003; Poli, 2006).

  2. 2.

    A more fine-grained system of types for relations may be introduced.

  3. 3.

    Recently, a principle of coordinated evolution is discussed in (Smith et al., 2007). One of the included rules, called orthogonality, is stating that for every domain there should be only one ontology. Such a principle must be rejected, it contradicts elementary evolution principles in science. There is great diversity of ontologies pertaining to the same domain which are determined by the conceptualization, by the axioms selected, and by the expressivity of the language in which these axioms are formulated.

  4. 4.

    E. Rosch doubts whether an invariant basis exists for categorization; hence, there may be a flaw in the so-called classical theory, according to which the invariant features are categorized (Cohen and Lefebere, 2005; Rosch, 1975).

  5. 5.

    Ontology questions what an entity is and what mode of existence it exhibits. Epistemology questions how a subject relates to an object and how knowledge is acquired and processed. But ontology may raise questions of existence about epistemology. In turn, epistemology may ask questions regarding how an ontologist, as a subject, relates to the reality. This process may be iterated on both sides. For purposes of this chapter, the ontological view to which epistemology belongs is the mental-psychological stratum.

  6. 6.

    It might be possible to explicate and represent this additional information adequately, but for current ICD-10 use this would generate a superfluous overhead. The situation changes, of course, if knowledge extensions of ICD are established, which can be used for inferences. In this case a clear separation of these distinct domains and an explication of their inter-relations are necessary.

  7. 7.

    It seems that these principles cover only a tiny fragment of rules for concept formation, compared with the vast body of knowledge about concept formation available in cognitive linguistics and cognitive psychology. In particular, the description logic formalism includes only a small fragment of predicate logic, and predicate logic provides only a small fragment of concept formation principles expressible in other formal languages.

  8. 8.

    One can imagine a situation in which only purified ontologies survive, and the epistemologically spoiled terminological systems, together with the mismatch problem, disappear from the scene. There are proposals whose realization would lead to such a consequence. In Smith et al. (2005), for example, the authors criticize the work of the ISO Technical committee and claim that it produces weak results inherited from the earlier work of the ISO TC 37. The ISO TC 37 was influenced by a “certain Eugen Wüster (1898–1977), an Austrian businessman, saw-manufacturer,..., and devotee of Esperanto” (Smith et al., 2005). This “saw-manufacturer” and “devotee of Esperanto” is, in the opinion of Smith et al., responsible for an aberration of terminology research that hampers the development of purified ontologies.

  9. 9.

    A more accurate definition must consider the distinction between terms and concepts. Furthermore, this definition has a relative nature, because it depends on a reference set of documents. Also, one must clarify whether the BT relation behaves monotonically with respect to the reference set SetDok. However, this does not appear to be true.

  10. 10.

    A concept is said to be primitive if its instances are individuals.

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Acknowledgments

Many thanks to Frank Loebe, Robert Hoehndorf, Roberto Poli, Josef Ingenerf, Janet Kelso, Jörg Niggemann, Matthew West, and anonymous reviewers for their critical remarks that contribute to the quality of the paper. I am grateful to Dayana Goldstein for her attentive reading which led to an improvement of the text. Many thanks to Christine Green for her help in preparing the English manuscript.

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Herre, H. (2010). The Ontology of Medical Terminological Systems: Towards the Next Generation of Medical Ontologies. In: Poli, R., Healy, M., Kameas, A. (eds) Theory and Applications of Ontology: Computer Applications. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-8847-5_16

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