=Paper= {{Paper |id=Vol-410/paper-3 |storemode=property |title=Why do it the hard way? The Case for an Expressive Description Logic for SNOMED |pdfUrl=https://ceur-ws.org/Vol-410/Paper03.pdf |volume=Vol-410 |dblpUrl=https://dblp.org/rec/conf/krmed/RectorBK08 }} ==Why do it the hard way? The Case for an Expressive Description Logic for SNOMED== https://ceur-ws.org/Vol-410/Paper03.pdf
Representing and sharing knowledge using SNOMED
Proceedings of the 3rd international conference on Knowledge Representation in Medicine (KR-MED 2008)
R. Cornet, K.A. Spackman (Eds)




                      Why do it the hard way? The Case for an Expressive
                                 Description Logic for SNOMED
                                                   Alan Rector, Sebastian Brandt
                                School of Computer Science, University of Manchester, Manchester M13 9PL,
                                                 (rector | brandt @cs.manchester.ac.uk


              Since SNOMED-RT/CT was originally formulated                     uniformly as fully defined “situations” that in-
              in the early to mid 1990s, there have been major                 clude any context required and that deal with
              developments in logic-based formalisms, ontology                 negation explicitly and formally.
              design and associated tools. Combined with the              • To represent all sites explicitly as to whether
              increase in computing power in the past two dec-                 they refer to the site in its entirety or to the dis-
              ades, these developments mean that many of the                   junction of the site and its parts.
              restrictions that limited SNOMED’s original for-
                                                                          • To define observables and related findings in
              mulation and schemas no longer need apply. We
                                                                               such a way that the classifier can be used to
              contend that future development of SNOMED
                                                                               recognise the equivalence between a situation
              would be made easier if a more expressive formal-
                                                                               involving an observable with a given value and
              ism and more modern tools were adopted.
                                                                               the corresponding finding of the observable
              The difficulties in the existing structure of                    with that value – e.g., between an observable
              SNOMED have been well documented. For exam-                      of “blood pressure” qualified by “elevated”
              ple, Bodenreider (1) examined the specialization                 and a finding of “elevated blood pressure”.
              hierarchy of SNOMED classes. Schulz discussed
                                                                          • To organise the stated form as a set of modules
              ‘relationship groups’ (2) and a broad range of other
                                                                               that can be separated for specific applications.
              ontological problems along with potential remedies
              (3). Schulz suggested a modest extension of                 Details of the proposed mechanisms are described
              SNOMED’s formalism to one with more clearly                 in the extended version of this paper and in (4, 5).
              defined semantics (EL+) but which still lacks true          Although the effort to migrate any large software
              negation and disjunction. We argue here that judi-          object should not be underestimated, most of the
              cious use of a more expressive language, OWL                proposed changes would cause few changes to the
              1.11, is now practical and would bring great bene-          schemas except for “Situations with specific con-
              fits including:                                             text,” which are known to be problematic. (How-
              • A uniform, clear and understandable schema                ever, the proposed analysis would identify many
                    for all concepts used in clinical records, in-        errors to be corrected.) The effort would be more
                    cluding context and negation.                         than repaid by providing a more regular and consis-
                                                                          tent system that would improve usability and sim-
              • Elimination of the need for special mecha-
                                                                          plify software development and query formulation.
                    nisms to deal with context, partonomy, and
                                                                          We argue that a feasibility study using a modest
                    role groups.
                                                                          subset of around 25K concepts should be an urgent
              • More effective leveraging of the underlying               priority for the SNOMED community.
                    logical representation to organise and quality
                                                                          References
                    assure the SNOMED hierarchies.
                                                                          1. Bodenreider O, Smith B, Kumar A, Burgun A. Inves-
              • Improved ability to recognise semantic equiva-               tigating subsumption in SNOMED CT: An explora-
                    lence between post-coordinated and pre-                  tion into large description logic-based biomedical
                    coordinated expressions and between “observ-             terminologies. AI in Medicine. 2007;39:183-195.
                    ables” with “values” and the corresponding            2. Schulz S, Hanser S, Hahn U, Rogers J. The seman-
                    “findings.”                                              tics of procedures and diseases in SNOMED CT.
              • Improved ability to modularise and segment                   Meth Inf Med. 2006;45:354-358.
                    SNOMED for specific purposes                          3. Schulz S, Suntisrivaraporn B, Baader F; SNOMED
              • Access to the tools and techniques being de-                 CT's Problem List: Ontologists' and logicians' ther-
                                                                             apy suggestions.; Medinfo 2007: IOS Press; 802-806.
                    veloped by the wider Semantic Web and OWL
                    communities.                                          4. Rector A, Qamar R, Marley T; Binding ontologies &
                                                                             coding systems to electronic health records and mes-
              In outline, the proposals are:                                 sages. 2006; Formal Biomedical Knowledge Repre-
              • To represent all concepts used in clinical re-               sentation (KR-MED 2006
                    cords (findings, observables, and procedures)         5. Rector AL; What's in a code: Towards a formal ac-
                                                                             count of the relation of ontologies and coding sys-
                                                                             tems. 2007; Medinfo 2007: Brisbane, Australia: IOS
              1
                  http://www.webont.org/owl/1.1/                             Press; 730-734.




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