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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>OWL-based Reasoning Methods for Validating Archetyped Clinical Knowledge</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Marcos Menárguez-Tortosa</string-name>
          <email>marcos@um.es</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Jesualdo Tomás Fernández-Breis</string-name>
          <email>jfernand@um.es</email>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Departamento de Informática y Sistemas, Facultad de Informática, Universidad de Murcia</institution>
          ,
          <country country="ES">Spain</country>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Departamento de Informática y Sistemas, Facultad de Informática, Universidad de Murcia</institution>
          ,
          <country country="ES">Spain</country>
        </aff>
      </contrib-group>
      <abstract>
        <p>Most advanced Electronic Healthcare Records architectures represent clinical knowledge by means of archetypes. Consequently, guaranteeing the correctness and consistency of such archetypes becomes crucial for the success of those architectures. In this work, we present a method that uses OWL and reasoners for evaluating the consistency of the archetypes. This method has been validated through its application to the openEHR archetype repository, which is the largest available one nowadays. The results of this validation are also reported in this study.</p>
      </abstract>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>-</title>
      <p>
        Archetype-based EHR domain knowledge plays a
fundamental role for the achievement of semantic interoperability in
healthcare [
        <xref ref-type="bibr" rid="ref2">2</xref>
        ]. In addition to this, the requirement of formal
methods for validating the design and content of archetypes
has been identi ed in [
        <xref ref-type="bibr" rid="ref3">3</xref>
        ]. So far, very few archetypes
authoring tools implement techniques for assuring the quality
of archetypes and none includes a knowledge-based
representation of archetypes in order to perform semantic
activities. In previous work, we addressed the representation of
This work has been possible thanks to the Spanish Ministry
of Science and Innovation through grant
TSI2007-66575C02-02.
archetypes based on semantic web technologies in order to
perform such semantic activities [
        <xref ref-type="bibr" rid="ref5">5</xref>
        ]. However, that
representation requires much implementation work for validating the
knowledge of archetypes and dealing with EHR extracts. In
[
        <xref ref-type="bibr" rid="ref4">4</xref>
        ] a representation that allows for processing EHR extracts
is proposed, but quality assurance and validation methods
were not provided.
      </p>
      <p>In this work, an OWL-based representation of archetypes
that makes it possible to accomplish validation and
quality assurance requirements is presented. The methods for
checking the consistency of archetypes will be supported by
reasoners, which will be in charge of helping to identify the
wrong de nitions in the archetypes.</p>
    </sec>
    <sec id="sec-2">
      <title>2. ARCHETYPES</title>
      <p>Archetypes are detailed and domain-speci c de nitions of
clinical concepts in the form of structured and constrained
combinations of the entities of the reference model. The ISO
EN 13606 and openEHR communities specify them using the
Archetype De nition Language (ADL). Next, an excerpt of
the de nition of an openEHR archetype for working with
check lists in healthcare is shown.</p>
      <p>-- A health oriented check list
EVALUATION[at0000] matches {
data matches {
-- Tree
ITEM_TREE[at0001] matches {
items cardinality matches {0..*; unordered} matches {
-- Question group
CLUSTER[at0002] occurrences matches {1..*} matches {
items cardinality matches {0..*; unordered} matches {
-- Question
CLUSTER[at0003] occurrences matches {1..*} matches {
items cardinality matches {1..2; ordered} matches {</p>
      <p>ELEMENT[at0004] occurrences matches {1..*} matches {*}
-- A comment on the answer
ELEMENT[at0005] occurrences matches {0..1} matches {
value matches {</p>
      <p>DV_TEXT matches {*}
}</p>
      <p>}
}
...</p>
      <p>Concepts in archetypes are identi ed by an id (e.g., at0003)
and characterized by their occurrences, that is, the number
of instances that can be part of the association to which they
belong. Multivalued attributes may be restricted in di
erent ways: cardinality, order and uniqueness (unique) of
the instances. Finally, an archetype can be de ned as the
specialization of another one.</p>
    </sec>
    <sec id="sec-3">
      <title>3. OWL REPRESENTATION</title>
      <p>In order to check the correctness of the clinical archetypes
based on OWL reasoning, we should be capable of
representing archetypes in OWL. As it has been mentioned,
archetypes are built by de ning restrictions over the entities of
the EHR reference model, usually expressed in UML.
Therefore, an OWL-based representation of the reference model is
needed. Otherwise, the validation of the archetypes would
not be possible. This is not a di cult step since this
representation can be obtained by applying the following simple
rules: (1) UML classes are transformed into OWL classes;
(2) attributes are represented as OWL properties and a
SubClassOf axiom is included in the class in which it has been
de ned; (3) inheritance relations are transformed into
SubClassOf axioms and sibling classes are de ned disjoint; and
(4) multivalued attributes are represented by means of a
class which makes use of properties for de ning the order,
repetitions, cardinality and range of the values of the
instances.</p>
      <p>An archetype de nes a clinical concept by constraining an
entity of the reference model. Such concept represents a
specialization of that reference model's entity. Those
restrictions are applied to the attributes de ned for each entity:
range, cardinality, and so on. In this way, each restricted
entity is de ned by means of an OWL class which contains
the de nition of the corresponding constraints. Most
constraints are applied to multivalued attributes. These
constraints are de ned over the collection class that represents
the range of the property. This is the case of the attribute
items of CLUSTER[at0003] that is shown next.</p>
      <sec id="sec-3-1">
        <title>Class: CLUSTER_at0003</title>
        <p>EquivalentTo: ARCHETYPED_CLASS
and id value "at0003"
and CLUSTER
and op_items only COLLECTION_CLUSTER_at0003_items</p>
      </sec>
      <sec id="sec-3-2">
        <title>Class: COLLECTION_CLUSTER_at0003_items</title>
        <p>EquivalentTo: COLLECTION
and id value "COLLECTION_CLUSTER_at0003_items"
and elements min 1 ITEM
and elements max 2 ITEM
and elements min 1 ELEMENT_at0004
and elements max 1 ELEMENT_at0005
and ordered value true
and unique value false
In case of de ning an archetype that specializes another one,
its de nition includes an additional annotation in each class.
That annotation indicates the name of the class in the parent
archetype that is being specialized, if any. This annotation
will then be used in the consistency checking process.</p>
      </sec>
    </sec>
    <sec id="sec-4">
      <title>4. CONSISTENCY CHECKING</title>
      <p>An archetype is consistent if its set of constraints de ned
over both the reference model and the parent archetype are
valid. The following types of errors can be identi ed:
incorrect restrictions and incorrect specializations. In this work,
such inconsistencies are detected by using a strategy based
on OWL reasoners. In the rst case, if a class is not
consistent with respect to the reference model, the reasoner will
nd that class unsatis able. Specialization errors requires
the processing of the reasoner results. In this way, a
specialization is wrong if the reasoner cannot infer a subsumption
relation.</p>
      <p>In order to provide detailed information about the causes of
the inconsistency, support classes, that allow the isolation
of each archetype constraint, are de ned. For instance, a
class is generated for de ning the constraint of maximum
cardinality for the attribute items of CLUSTER_at0003. The
de nition of these classes for the specialized archetype would
be similar, except for the addition of the corresponding
annotation to de ne its parent archetype.</p>
      <p>Class: MAX_CARDINALITY_COLLECTION_CLUSTER_at0003_items
EquivalentTo: MAX_CARDINALITY
and id value "COLLECTION_CLUSTER_at0003_items"
and max_cardinality_value only xsd:int[ &lt;= 2 ]</p>
    </sec>
    <sec id="sec-5">
      <title>5. VALIDATION AND TOOLING</title>
      <p>The OWL-based method for checking the consistency of
archetypes has been implemented in the tool Archeck that is
available at http://miuras.inf.um.es/archeck. The tool has
been implemented in Java and makes use of the openEHR
Java tools. Ontologies are processed with the OWL API and
we have used Pellet and Fact++ for the reasoning.
Our experimental validation has used the archetypes
available in the openEHR repository. The validation of this
repository has reported that 14 over 931 archetypes are
inconsistent. In terms of reasoning time, the results obtained
with Fact++ are better than with Pellet. The complete
results of this experiment are available at the referred website.</p>
    </sec>
    <sec id="sec-6">
      <title>6. CONCLUSIONS</title>
      <p>This work proposes a representation of ADL clinical
archetypes as OWL classes in order to check the correctness of
their de nitions by using OWL reasoners. The approach
has been implemented in the Archeck tool and has been
validated using the openEHR archetype repository. The tool
has proved to be useful since a number of archetypes have
been found inconsistent in that repository and the validation
errors have been reported. Archeck will also be deployed as
a web service in order to integrate the validation process in
other tools.</p>
    </sec>
  </body>
  <back>
    <ref-list>
      <ref id="ref1">
        <mixed-citation>
          [1]
          <string-name>
            <given-names>T.</given-names>
            <surname>Beale</surname>
          </string-name>
          . Archetypes:
          <article-title>Constraint-based Domain Models for Futureproof Information Systems</article-title>
          .
          <source>In Eleventh OOPSLA Workshop on Behavioral Semantics: Serving the Customer</source>
          ,
          <year>2002</year>
          .
        </mixed-citation>
      </ref>
      <ref id="ref2">
        <mixed-citation>
          [2]
          <string-name>
            <given-names>European</given-names>
            <surname>Commission</surname>
          </string-name>
          .
          <article-title>Semantic interoperability for better health and safer healthcare. deployment and research roadmap for europe</article-title>
          . ISBN-
          <volume>13</volume>
          :
          <fpage>978</fpage>
          -
          <lpage>92</lpage>
          -79-11139-
          <issue>6</issue>
          ,
          <year>2009</year>
          .
        </mixed-citation>
      </ref>
      <ref id="ref3">
        <mixed-citation>
          [3]
          <string-name>
            <given-names>D.</given-names>
            <surname>Kalra</surname>
          </string-name>
          .
          <article-title>EHR Archetypes in practice: getting feedback from clinicians and the role of EuroRec</article-title>
          .
          <source>In eHealth Planning and Management Symposium</source>
          ,
          <year>2007</year>
          .
        </mixed-citation>
      </ref>
      <ref id="ref4">
        <mixed-citation>
          [4]
          <string-name>
            <given-names>O.</given-names>
            <surname>Kilic</surname>
          </string-name>
          ,
          <string-name>
            <given-names>V.</given-names>
            <surname>Bicer</surname>
          </string-name>
          ,
          <article-title>and</article-title>
          <string-name>
            <given-names>A.</given-names>
            <surname>Dogac</surname>
          </string-name>
          . Mapping Archetypes to OWL.
          <source>Technical report</source>
          , Middle East Technical University, Turkey,
          <year>2005</year>
          .
        </mixed-citation>
      </ref>
      <ref id="ref5">
        <mixed-citation>
          [5]
          <string-name>
            <given-names>C.</given-names>
            <surname>Mart</surname>
          </string-name>
          nez-Costa,
          <string-name>
            <given-names>M.</given-names>
            <surname>Menarguez-Tortosa</surname>
          </string-name>
          ,
          <string-name>
            <given-names>J. T.</given-names>
            <surname>Fernandez-Breis</surname>
          </string-name>
          ,
          <article-title>and</article-title>
          <string-name>
            <given-names>J. A.</given-names>
            <surname>Maldonado</surname>
          </string-name>
          .
          <article-title>A model-driven approach for representing clinical archetypes for Semantic Web environments</article-title>
          .
          <source>Journal of Biomedical Informatics</source>
          ,
          <volume>42</volume>
          (
          <issue>1</issue>
          ):
          <volume>150</volume>
          {
          <fpage>164</fpage>
          ,
          <year>2009</year>
          .
        </mixed-citation>
      </ref>
    </ref-list>
  </back>
</article>