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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Profiling ICD-11 Terminological Content Using the Common Terminology Services 2 (CTS2) Standard</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Guoqian Jiang</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
          <xref ref-type="aff" rid="aff2">2</xref>
          <xref ref-type="aff" rid="aff3">3</xref>
          <xref ref-type="aff" rid="aff4">4</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Harold R. Solbrig</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
          <xref ref-type="aff" rid="aff2">2</xref>
          <xref ref-type="aff" rid="aff3">3</xref>
          <xref ref-type="aff" rid="aff4">4</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Christopher G. Chute</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
          <xref ref-type="aff" rid="aff2">2</xref>
          <xref ref-type="aff" rid="aff3">3</xref>
          <xref ref-type="aff" rid="aff4">4</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Can Celik</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
          <xref ref-type="aff" rid="aff2">2</xref>
          <xref ref-type="aff" rid="aff3">3</xref>
          <xref ref-type="aff" rid="aff4">4</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Bedirhan T. Ustun</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
          <xref ref-type="aff" rid="aff2">2</xref>
          <xref ref-type="aff" rid="aff3">3</xref>
          <xref ref-type="aff" rid="aff4">4</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Code</institution>
          ,
          <addr-line>Parent, Child, Title, Definition, Inclusion, Exclusion, Class Kind, Coding Hint, Note</addr-line>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Mayo Clinic College of Medicine</institution>
          <addr-line>Rochester, MN</addr-line>
          ,
          <country country="US">USA</country>
        </aff>
        <aff id="aff2">
          <label>2</label>
          <institution>Title</institution>
          ,
          <addr-line>Definition, Child Code, Parent, Child, Title, Definition, Long Definition</addr-line>
        </aff>
        <aff id="aff3">
          <label>3</label>
          <institution>Title</institution>
          ,
          <addr-line>Latest Version, Version Title, Latest Version, Version</addr-line>
        </aff>
        <aff id="aff4">
          <label>4</label>
          <institution>World Health Organization Geneva</institution>
          ,
          <country country="CH">Switzerland</country>
        </aff>
      </contrib-group>
      <pub-date>
        <year>2014</year>
      </pub-date>
      <fpage>33</fpage>
      <lpage>38</lpage>
      <abstract>
        <p>-In the beta phase of the 11th revision of International Classification of Diseases (ICD-11), the World Health Organization (WHO) exposes ICD-11 content through a collection of web services. The emerging Common Terminology Services 2 (CTS2) standard provides a common model and semantics for representation, interchange, and federation of terminological resources. We hypothesize that the CTS2 standard can provide service layer of standardization that could potentially aid in the interoperability among authoring applications for the ICD-11 revision. This paper examines the existing WHO ICD-11 content services from the perspective of the CTS2 standard. The content in the WHO ICD-11 content services was mapped to the Code System Catalog, Code System Version Catalog, Entity Description and Association models in the CTS2 specification. It proposes mappings for existing ICD-11 properties and suggests additional CTS2 properties may be important for ICD-11. The mapping effort was used to develop a prototype of the CTS2 Services Wrapper for the ICD-11. In conclusion, the CTS2 standard is useful in exposing ICD-11 content representation through predictable and familiar services.</p>
      </abstract>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>-</title>
      <p>Keywords—ICD-11; CTS2; Medical Classification; Data
Standards; Biomedical Ontologies</p>
      <p>I.</p>
      <p>INTRODUCTION</p>
      <p>
        The International Classification of Diseases (ICD) is an
international data standard presently maintained and curated by
the World Health Organization (WHO) [
        <xref ref-type="bibr" rid="ref1">1</xref>
        ], and is widely used
to support international comparison of mortality statistics. In
March 2007, WHO officially launched the 11th revision of
ICD (ICD-11) that aims to digitize the content of ICD using
modern knowledge representation methods and standards
instead of a traditional manual revision process.
      </p>
      <p>
        To facilitate the ICD-11 revision, WHO developed a
content model to present the knowledge that underlies the
definitions of an ICD entity. The content model is composed of
three layers: a foundation layer, a linearization layer, and an
ontological layer [
        <xref ref-type="bibr" rid="ref2">2</xref>
        ]. The foundation layer is the core product
of the ICD-11 revision that stores the full range of knowledge
of all classification units in ICD. Each linearization, of which
there may be many such as Mortality, Morbidity and Primary
Care, corresponds to the classical print versions of ICD. The
ontological layer provides references to formal definition of
terms and relationships through two components: 1) Reference
Ontologies and 2) The Common Ontology. The Common
Ontology forms the semantic backbone of the ICD Foundation
Layer and is a shared subset of the Systematized Nomenclature
      </p>
      <p>
        The Common Terminology Services 2 (CTS2) [
        <xref ref-type="bibr" rid="ref5">5</xref>
        ] is an
emerging Object Management Group (OMG) standard [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ] that
defines the functional requirements of a set of service
interfaces to allow the representation, access, and maintenance
of taxonomy content either locally, or across a federation of
terminology service nodes. We consider that building CTS2
services on the top of the WHO ICD-11 content services will
potentially 1) provide standards-based representation of
ICD11 content; 2) provide sophisticated terminology services (e.g.,
lexical/semantic query services; value set definition and
management services); 3) facilitate the interactions with other
terminologies such as SNOMED CT; and 4) optimize the
interoperability among downstream authoring applications for
ICD-11 revision.
      </p>
      <p>The objective of this paper is to describe the existing WHO
ICD-11 content services using the CTS2 standard
specifications. We profiled the WHO ICD-11 content services
using the information models of Code System Catalog, Code
System Version Catalog, Entity Description and Association
from the CTS2 specification. We developed the mappings for
the elements between the two service models and identified the
CTS2 elements that are missing from the WHO services but
important for the ICD-11 content representation and services.</p>
      <p>We also developed a prototype of the CTS2 Wrapper Services
for ICD-11.</p>
      <p>
        A Unified Resource Identifier (URI) is commonly used to
name and identify a resource, and is treated as a core principle
of Semantic Web Linked Open Data by Tim Berners-Lee [
        <xref ref-type="bibr" rid="ref7">7</xref>
        ].
      </p>
      <p>A RESTful, resource-oriented service exposes a URI for every
piece of data the client might need to interact with. A
welldesigned URI structure/scheme would allow users to easily
explore and invoke ICD content through an implementation of
the RESTful services. Recently, an ICD URI scheme was
proposed for naming and supporting web services by WHO.</p>
      <p>The base URI of http://id.who.int has been adopted, with
http://id.who.int/icd/schema as the prefix for the vocabulary
terms that are related to ICD classification efforts maintained
by WHO and http://id.who.int/icd/entity for the foundation
entities related to ICD concepts.
Title, Latest Version, Version
Title, Latest Version, Version</p>
      <p>Fig. 1. A HTML view of the RDF rendering of the individual foundation entity “Acute myocardial infarction
(http://id.who.int/icd/entity/1334938734)”. (icd prefix: http://id.who.int/icd/schema/; skos: http://www.w3.org/2004/02/skos/core#.)</p>
    </sec>
    <sec id="sec-2">
      <title>B. CTS2 Standard Specification</title>
      <p>
        CTS2 is an OMG specification [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ] for representing,
accessing, and disseminating terminological content. The
CTS2 platform independent model (PIM) describes the formal
model and semantics of the various components. The PIM
model is rendered in the Unified Modeling Language (UML)
and its specification is publicly accessible at the OMG website.
As of April 2014, the CTS2 version 1.1 is the latest version
released [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ].
      </p>
      <p>The CTS2 specification specifies the information models
for the terminological artifacts. These artifacts include:
Code System Catalog – metadata about code systems
(ontologies, code sets, thesauri, classification systems,
etc.) (See Fig. 2)
Code System Version Catalog - metadata about specific
versions of code systems.</p>
      <p>Entity Description - a set of entity (aka. “class”, “category”,
“concept”, “predicate”, “property”, “term”, “individual”)
identifiers known to the service along with information
about which code system versions make assertions about
these identifiers and what they say.</p>
      <p>Association - sets of “semantic” assertions about entity
identifiers, in which the entity identifier may play the role
of subject, predicate (verb) or object in the assertions.
Value Set Catalog - metadata about sets of entity identifiers
(value sets) that have been grouped for some purpose.
Value Set Definition - information about how value sets are
constructed.
•
•</p>
      <p>Concept Domain Catalog - a catalog of abstract “concept
domains” that represent a collection of possible meanings.
Map Catalog - a catalog of “maps” - collection of rules that
allow human or machine assisted transformation between
the codes in one value set or code system and those in a
second.</p>
      <p>The CTS2 specification also supports a number of
functional areas including the Read, Query, Update, History,
Maintenance, and Temporal services.</p>
      <p>Fig. 2. Code System Catalog Information Model.</p>
      <sec id="sec-2-1">
        <title>PROFILING ICD TERMINOLOGICAL CONTENT We analyzed the existing WHO ICD content services, and profiled the ICD-11 terminological content using the CTS2</title>
        <p>information models of Code System Catalog, Code System
Version Catalog, Entity Description and Association. We
identified the mappings of the properties between the two
service models and suggested the CTS2 properties that are
important for ICD-11 but currently missing from the existing
service implementation.</p>
      </sec>
    </sec>
    <sec id="sec-3">
      <title>A. Code System Catalog</title>
      <p>We identified three code systems from the existing WHO
ICD content services: 1) ICD-11 Foundation
(http://id.who.int/icd/entity) that corresponds to the Top Level of
the Foundation category in Table 1; 2) ICD-11 Morbidity
(http://id.who.int/release/11/morbidity) that corresponds to the Top
Level of the ICD-11 Linerizations without minor version in
Table 1; and 3) ICD10 (http://id.who.int/release/10) that
corresponds to the Top Level of the ICD10 without minor
version. Table 2 shows the mappings of the properties between
the ICD code systems and the CTS2 Code System Catalog
model. We also suggested 5 properties shown in red
(codeSystemName, resourceType, resourceSynopsis, rights
and entryState) that may be important for describing the ICD
code systems.
versioning information, so the same URI is used for both the
code system and the code system version for now. 2) ICD-11
Morbidity Beta (http://id.who.int/release/11/beta/morbidity) is the
current version of the code system ICD-11 Morbidity; 3)
ICD10 has two version: ICD10 2010
(http://id.who.int/release/10/2010) and ICD10 2008
(http://id.who.int/release/10/2008), in which ICD10 2010 is the
current version of the code system ICD10.</p>
      <p>For the individual entities in each code system version, we
used the CTS2 Entity Description model for the profiling.
Table 4 shows the mappings of the properties between the
individual entities and the CTS2 Entity Description model.
We also suggest four additional CTS2 properties shown in red
(describingCodeSystemVersion, ancestors, descendants and
entityType) that may be important for describing an individual
ICD-11 entity.</p>
      <p>As mentioned in the section above, the CTS2 Association
represents sets of “semantic” assertions about entity identifiers,
in which the entity identifier may play the role of subject,
predicate (verb) or object in the assertions. In fact, the
properties “subjectOf”, “predicateOf”, “targetOf”, “parents”,
“children”, “ancestors” and “descendants” in the CTS2 Entity
Description model (see Table 4) are such sets of assertions
utilizing the Association model. Specifically, the CTS2
Association Directory model is used for the semantics asserted
for the property “subjectOf” and the CTS2 Entity Directory
model is used for the semantics asserted for the rest of four
properties.</p>
      <p>
        Based on the mappings identified and the new properties
suggested in the section above, we have initiated a prototype
implementation by building a CTS2 services wrapper for
ICD11. The wrapper takes a URI from existing WHO ICD content
services as input, and extracts RDF-based content (by content
negotiation) using the Jena API [
        <xref ref-type="bibr" rid="ref9">9</xref>
        ], and develops the
CTS2compliant rendering using CTS2 Development Framework
APIs [
        <xref ref-type="bibr" rid="ref10">10</xref>
        ].
      </p>
      <p>Note that the CTS2 Development Framework is a
development kit for rapidly creating CTS2 compliant
applications. The CTS2 Development Framework provides a
REST web application, along with URL routing and parameter
handling. The CTS2 Development Framework has been
successfully used to build a NCBO BioPortal Wrapper service
that provide a layer of standardized CTS2 signatures to existing
biomedical ontologies available in BioPortal.</p>
      <p>Table 5 shows a set of service signatures proposed for the
implementation of an ICD-11 CTS2 Services Wrapper. The
wrapper services cover those terminological artifacts presented
in the section III. The detailed examples of each service for the
prototype implementation can be accessed at:</p>
      <p>http://informatics.mayo.edu/rest2/project/icd11/cts2/doc.</p>
      <p>
        First, we found that ICD-11 Foundation, as a code system
from the CTS2 perspective, does not have a versioning
mechanism in the existing WHO services. The existing WHO
service implementation was based on a specific use case
assumption that all the linearization releases (e.g., ICD-11
Morbidity) should refer to versionless foundation entity URIs
so that different linearizations created at different times could
be anchored by the foundation entity URIs. However, when we
consider the entire life cycle of ICD-11 content authoring, the
versioning mechanism is a critical component for the authoring
applications that would need to access version specific
foundation entities or history of changes. We propose that
WHO may consider a model similar to that used by SNOMED
CT which allows for both fine-grained and coarse versioning.
Specifically, revisions to the SNOMED CT are released twice
a year and marked by the release date, e.g., the version
20140131. In a fine-grained level in the Release Format 2
(RF2) of SNOMED CT [
        <xref ref-type="bibr" rid="ref8">8</xref>
        ], each component has its effective
time and active status to indicate versioning mechanism. The
CTS2 Code System and Code System Version models contain
rich metadata for representing such versioning mechanism.
      </p>
      <p>Second, we identify three code systems and their
corresponding code system versions from the existing WHO
services, while we also find that these important terminological
artifacts are generally underspecified. In addition to identifying
the property mappings, we suggest 5 properties from the CTS2
Code System Catalog model and 9 properties from the CTS2
Code System Version Catalog model for describing these
ICD11 terminological artifacts. For example, we suggest property
“rights” for the artifacts because it will make the WHO rights
statement explicit . Such statement will be critical for providing
the guidance to the user community for the use of ICD-11 that
is critical to the users. We also suggest the properties
“defaultLanguage” and “supportedLanguage” for the ICD-11
because the multilingual support is one of major goals for the
ICD-11 revision and eventually at least the six official United
Nations languages will need to be supported.</p>
      <p>Third, those ICD properties (such as Body System, Causal
Agents, etc.) that will have values from external terminologies
(e.g., SNOMED CT, ICF) are mapped to the CTS2 property
“subjectOf”, which can be elegantly described by the
Association Directory model. Note that the existing WHO
services have not exposed the external identifiers for those
values annotated by external terminologies. For example, as
shown in Fig. 1, the property icd:bodySite in the foundation
entity “Acute myocardial infarction” has the value
“Myocardium structure (body structure)” in a textual string.
The original unique identifier from SNOMED CT (i.e.,
http://snomed.info/id/74281007) is not exposed in the existing
services. In addition, CTS2 uses the Entity Directory model to
describe the semantics for the properties “parents”, “children”,
“ancestors” and “descendants” in the CTS2 Entity Description
model. We found that the existing WHO services do not have a
mechanism to retrieve the transitive closure for parent (i.e.,
skos:broaderTransitive) or child (skos:narrowerTransitive)
relationships to get all ancestors or descendants for a specific
ICD entity. This is an area that would need to be enhanced in
the future.</p>
      <p>
        Fourth, CTS2 is designed to address a broad range of
requirements within the ontology and terminology community.
In addition to the specification about the four kinds of
terminological artifacts addressed by this paper, CTS2
specifications also have the notions of Value Set Catalog,
Value Set Definition and Map Catalog. Although the existing
WHO services have not exposed any such terminological
artifacts, these artifacts (e.g., value sets) have been actively
utilized in the ICD-11 revision process. Actually, a collection
of value sets (including Body Systems, Anatomical Sites,
Functioning, etc.) had been developed and utilized in support
of the ICD-11 revision. In a previous study, we developed and
evaluated approaches to value set extraction from SNOMED
CT for the ICD-11 anatomy use case [
        <xref ref-type="bibr" rid="ref11">11</xref>
        ]. We consider that
CTS2 would play a key role in enabling the standard
representation and dissemination of such terminological
artifacts in the future.
      </p>
      <p>In summary, CTS2 standard specification is a very useful
tool for profiling the ICD-11 terminology content. The
outcome produced by this profiling would potentially enrich
the WHO ICD-11 content representation and enable a robust
and standards-based content services to better support the
ICD11 revision applications.</p>
      <sec id="sec-3-1">
        <title>ACKNOWLEDGMENT This work is partly supported by a Mayo-WHO Contract 200822195-1. REFERENCES</title>
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