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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Cross-lingual access to biomedical terminologies and ontologies</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Julien Grosjean</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Lina F. Soualmia</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Tayeb Merabti</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Nicolas Griffon</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Badisse Dahamna</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Stéfan J. Darmoni</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>CISMeF, Rouen University Hospital &amp; TIBS, LITIS EA 4108, Institute of Biomedical Research, University of Rouen</institution>
          ,
          <country country="FR">France</country>
        </aff>
      </contrib-group>
      <abstract>
        <p>The Health Terminology/Ontology Portal (HeTOP) is a repository dedicated to health professionals and students. It provides access to 45 health knowledge bases (including terminologies and ontologies) available in 23 different languages. Several methods and technologies have been developed to create this portal, dedicated to both human and computers. HeTOP is a valuable tool for a wide range of applications and users, especially in education and resource indexing but also in information retrieval or performing audits in terminology management. A total of 5,355,000 terms and 4,890,000 relations are included in HeTOP. To our knowledge, this kind of multi-terminology and crosslingual portal is the first of its kind. Non-European languages have been integrated recently. The conceptual approach used in the model allows integration of any language while maintaining valid relations between concepts.</p>
      </abstract>
      <kwd-group>
        <kwd />
        <kwd>Controlled Vocabulary</kwd>
        <kwd>Internet</kwd>
        <kwd>Information Storage and Retrieval</kwd>
        <kwd>Terminology as subject</kwd>
        <kwd>Health terminologies and ontologies</kwd>
        <kwd>Crosslingual access to health information</kwd>
        <kwd>Portal</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>-</title>
      <p>Terminologies and ontologies (T/O) are not only increasingly more complex with rich
semantic relations, but also more diversified and exploited. Rich semantic relations
are defined as relations that provide the end-user with an added-value besides the
classic broader-narrower (BT-NT). These knowledge resources are mainly used to
index (or annotate) or perform complex tasks such as ontology reasoning.</p>
      <p>
        A terminology server has been defined as a tool to manage and to give access to
various terminologies [
        <xref ref-type="bibr" rid="ref1">1</xref>
        ]. Several terminology servers have already been developed,
mostly in English, in particular BioPortal [
        <xref ref-type="bibr" rid="ref2">2</xref>
        ], developed by the US National Center
for Biomedical Ontologies (NCBO). Since 2006, the CISMeF team has been
developing a terminology portal which originally focused on French T/O (URL:
http://pts.chu-rouen.fr) [
        <xref ref-type="bibr" rid="ref3">3</xref>
        ].
      </p>
      <p>The objective of this paper is to demonstrate the various interests of a cross-lingual
terminology portal, including (a) to index any document in a multi-terminology
crosslingual mode, (b) to teach rare diseases or anatomy, (c) to develop multi-terminology
automatic indexing and information retrieval tools and (d) to perform audits in
terminology management.
2</p>
    </sec>
    <sec id="sec-2">
      <title>Methods</title>
      <p>
        Dealing with these kinds of T/O is not an easy task due to structure, size, nature and
specificity. First, a meta-model was created in order to integrate all T/O and one
global generic system. This meta-model has been validated as we managed to integrate not
only any terminology into it, but also ontologies [
        <xref ref-type="bibr" rid="ref4">4</xref>
        ]. The meta-model is compliant
with the ISO 25964-1 data model and the ISO 25964-2 norm for interoperability.
      </p>
      <p>
        HeTOP terminologies are implemented as light Ontology Web Language (OWL)
ontologies. On the other hand, moving from an ontological to a terminological
representation is based on a reification process. In this way, formal ontologies are
“degraded” to fit this multi-terminology model. This meta-model is basically
crosslingual because preferred terms, synonyms or other textual attributes can be defined
by a language code (en for English, fr for French, etc.). Each terminology T of
HeTOP is built as an enrichment of this model. We have combined different data sources
for each available terminology language (UMLS, official national sources of ICD-10,
etc.). The resulting physical model is a powerful support to perform huge data
handling (integration and information retrieval). To ensure interoperability between T/O,
Natural Language Processing tools have been developed and validated [
        <xref ref-type="bibr" rid="ref5">5</xref>
        ]. Finally, a
web application was developed, dedicated to both health professionals and students,
with an adapted graphic interface and an efficient search engine. A French InfoButton
providing access to around 50 Web knowledge bases such as PubMed [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ] has been
integrated into the HeTOP [
        <xref ref-type="bibr" rid="ref7">7</xref>
        ].
      </p>
      <p>This tool was evaluated by two consecutive groups of second year medical students
in September 2010 and September 2011 respectively.
3</p>
    </sec>
    <sec id="sec-3">
      <title>Results</title>
      <p>A total of 45 terminologies are included in HeTOP, with 1,570,000 concepts,
3,680,000 synonyms, 192,000 definitions and 4,890,000 relations. A total of 23
different languages are available. Some of these European languages do not use the
Latin alphabet e.g. Greek or Russian and some non-European languages were also
introduced into HeTOP such as Arabic or Japanese).</p>
      <p>Thirty two of these terminologies are not yet included in the UMLS; among them,
some are developed by the World Health Organization (e.g. ATC for drugs).</p>
      <p>In the current cross-lingual version, it is possible to navigate both as a matrix
between the 45 T/O and in the mean time between 23 languages.</p>
      <p>To consult the crosslingual HeTOP (http://www.hetop.eu/, click on “Se connecter”;
login=fmauser, password=fmapass). HeTOP freely provides access to many
terminologies such as ICD10 and FMA in several languages.</p>
      <p>Enrichment of T/O. The CISMeF has manually translated several T/O.; For the
MeSH thesaurus, the CISMeF team has added: 22,039 synonyms to the MeSH
Descriptors, 163 synonyms to the MeSH Qualifiers. It has also manually translated
20,909 MeSH Supplementary Concepts (10.17%) and has added to them a set of
6,974 synonyms in French.</p>
      <p>Ontology auditing. For each Orphanet disease which has a semantic exact match
with OMIM, it is now possible for the ontologist to confront the Orphanet phenotypes
to the HPO phenotype. For example, for the Marfan disease, Orphanet provides a
semantic link to 65 signs, when HPO provides 51 signs. It is then easy for ontologists
from HPO and Orphanet to review the discrepancies between the two ontologies.</p>
      <p>Teaching. HeTOP was used as a tool for teaching rare diseases and anatomy to
Rouen medical students since 2010. These two fields of medicine were chosen
because one ontology already exists in anatomy (FMA) and two for rare diseases
(Orphanet and HPO).</p>
      <p>Evaluation. The results of the two qualitative evaluation surveys performed over
the previous two years on two successive cohorts of Rouen Medical School students
(second year) are as follows. The results of the questionnaire are displayed in Table 1.
The HeTOP terminology portal presented here has the main functionalities of any
terminology server. On one hand, HeTOP has several qualities:</p>
      <p>
        The main added value of HeTOP when compared to NCBO Bioportal [
        <xref ref-type="bibr" rid="ref2">2</xref>
        ] or the
EBI Ontology Lookup Service [
        <xref ref-type="bibr" rid="ref8">8</xref>
        ] is the possibility to access biomedical T/O using
cross-lingual functionalities, allowing navigation among T/O and in the same time
among languages. Moreover, the aim of HeTOP is not to be a simple repository of
versioned T/O such as BioPortal: HeTOP is dedicated to end-users and offers
resources of quality and some extra tools to help them to understand the T/O in order to
use them in a proper way.
      </p>
      <p>
        Another added value of HeTOP when compared to any UMLS browser [
        <xref ref-type="bibr" rid="ref9">9</xref>
        ] is the
possibility it offers to access the main health terminologies in French or multi-lingual
terminologies and the World Health Organization (WHO). To the best of our
knowledge, the HeTOP is the first terminology portal with such specific emphasis on
French T/O (more than 500,000 terms in French included in HeTOP).
      </p>
      <p>Whereas assessment of HeTOP has demonstrated that its content was most
appreciated by students, these studies show a need for improvement in its design. Indeed,
this kind of portal is complex and necessitates further research on new user access. In
addition, a wider study on the portal quality and its use would be of value.</p>
      <p>HeTOP is mainly dedicated to medical librarians to index resources in a
multiterminology mode. HeTOP is also very useful not only for translators, terminologists,
but also healthcare professionals, in particular physicians.</p>
      <p>Acknowledgments.</p>
      <p>This study was partially funded by several regional (Normandy), national (France)
and European projects, respectively PlaIR (URL: www.plair.org), InterSTIS (URL:
www.interstis.org) &amp; PSIP (URL: www.psip-project.eu/).</p>
    </sec>
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