MIE2014: A Framework for Evaluating and Utilizing Medical Terminology Mappings

A Framework for Evaluating and Utilizing Medical Terminology Mappings

EHR4CR – Open PHACTS, SALUS and W3C collaboration

Sajjad Hussain1, Hong Sun2, Ali Anil Sinaci3, Gokce Banu Laleci Erturkmen3, Charlie Mead4, Alasdair Gray5, Deborah McGuinness6, Eric Prud’Hommeaux7, Christel Daniel1, Kerstin Forsberg8

MIE2014 2-Sept-2014EHR4CR: 1INSERM UMRS 1142, Paris, France; 8 AstraZeneca, R&D Information, Mölndal Sweden

Open PHACTS: 5School of Mathematical and Computer Sciences, Heriot-Watt UniversitySALUS: 3Software Research, Development and Consultancy, Ankara, Turkey,

2Advanced Clinical Applications Research Group, Agfa HealthCare, Gent, BelgiumW3C: 4Health Care and Life Sciences IG, 7MIT, Cambridge, MA, USA,

6Department of Computer Science, Rensselaer Polytechnic Institute, Troy, US

12014 Medical Informatics Europe

http://slideshare.net/kerfors/MIE2014 Version 1.0

http://slideshare.net/kerfors/MIE2014

Objective• Show the challenging nature of mapping utilization

among different terminologies.• A framework built upon existing terminology mappings

to: – Infer new mappings for different use cases.– Present provenance of the mappings together with

the justification information.– Perform mapping validation in order to show that

inferred mappings can be erroneous.• Enable a more collaborative semantic landscape with

providers and consumers of terminology mappings.2

2014 Medical Informatics Europe http://slideshare.net/kerfors/MIE2014


Semantic landscape 1(3)

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For more information about these see the reference slides in the end of this slide deck.


Consumers and, somewhat reluctant, creators of mappings



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Providers of terminology mappings,some examples





5

Providers of terminology mappings,some examples

Providers of terminologies,some examples




Rationale

• Challenging nature of mapping utilization, or “How hard can it be?” – Appear to the uninitiated as a simple exercise like “this

term in this terminology is the same as that term in that terminology”




Example Scenario

• Challenging nature of mapping utilization, or “How hard can it be?” – Appear to the uninitiated as a simple exercise like “this

term in this terminology is the same as that term in that terminology”

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Example Scenario 1(3)

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Defined

Mappings


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matches

matches

matches

Defined

Mappings

Inferred

Mappings


10

matches

matches

matches

Defined

Mappings

Inferred

Mappings

matches

Problematic

Mappings

• Availability of up-to-date information to assess the suitability of a given terminology for a particular use case.

• Difficulty of correctly using complex, rapidly evolving terminologies.

• Differences in granularity between the source and target terminologies.

• Lack of semantic mappings in order to completely and unambiguously define computationally equivalent semantics.

• Lack of provenance information, i.e. how, when and for what purposes the mappings were created.

• Time and effort required to complete and evaluate mappings.

“It’s complicated”. So, we often become, somewhat reluctant, creators of our own mappings




Objective: A more collaborative semantic landscape

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Value adding providers of terminology mappings

Value adding providers of terminologies

Informed consumers of terminology mappings

Framework




• Lexical Mappings (LOOM) generated by performing lexical comparison between preferred labels and alternative labels of terms. These mappings are represented via skos:closeMatch property.

• Xref OBO Mappings Xref and Dbxref are properties used by ontology developers to refer to an analogous term in another vocabulary. These mappings are represented via skos:relatedMatch property.

• CUI Mappings from UMLS are extracted by utilizing the same Concept Unique Identifier (CUI) annotation as join point of similar terms from different vocabularies. These mappings are represented via skos:closeMatch property.

• URI-based Mappings are generated identity mappings between term concepts in different ontologies that are represented by the same URI. These mappings are represented via skos:exactMatch property.

Mapping Strategies




Terminology Mappings Validation Schemes

Collaborative semantic landscape

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Value adding providers of terminology mappings

Value adding providers of terminologies

Enabled by applications of the RDF standard

Informed consumers of terminology mappings

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Application of RDF forrepresenting mappings


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Application of RDF forrepresenting provenance


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Applications of RDF for packaging assertions (e.g. mappings) with provenance


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Applications of RDF for describing datasets and linksets with justifications


Example Scenario

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matches

matches

matches

Defined

Mappings

Inferred

Mappings

matches

Problematic

Mappings

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Example Scenario

matches

Defined

Mappings

Inferred

Mappings

matches

Defined

Mappings

Inferred

Mappings

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SKOS/RDF for representing mappings

ICD9CM:999.4 skos:exactMatch SNOMEDCT:21332003

SNOMEDCT:21332003 skos:exactMatch MedDRA:10067113

ICD9CM:999.4 skos:exactMatch MedDRA:10067113

matches

Defined

Mappings

Inferred

Mappings

Nanopublication for packaging mappings and mapping provenance representations

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ICD9CM:999.4 skos:exactMatch MedDRA:10067113Assertion

Justification trace generated from EYE reasoning engine

Justification Vocabulary terms forRelating Terminology Concepts/Terms

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??



Applications of RDF for describing datasets and linksets with justifications



Linksets: Justification Vocabulary Terms 1(3)




CIM Workshop at ISWC2014 to discuss: Justification Vocabulary terms for

Relating Terminology Concepts/Terms

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Acknowledgments• Session chair• MIE2014 organizers• SALUS team: Hong Sun, Ali Anil Sinaci, Gokce Banu Laleci Erturkmen

– Support from the European Community’s Seventh Framework Programme (FP7/2007–2013) under Grant Agreement No. ICT-287800, SALUS Project (Scalable, Standard based Interoperability Framework for Sustainable Proactive Post Market Safety Studies).

• EHR4CR team: WP4, WPG2, WP7 members– Support from the Innovative Medicines Initiative Joint Undertaking under grant

agreement n° [No 115189]. European Union's Seventh Framework Programme (FP7/2007-2013) and EFPIA companies

• Open PHACTS team: Alasdair Gray• W3C HCLS team: Eric Prud’Hommeaux, Charlie Mead




Reference material

• Projects/organisations of the authors of this paper• Example

– Mapping Representation using SKOS– Mapping Provenance Representation

2014 Joint Summits on Translational Science 32

EHR4CRElectronic Healthcare Record For Clinical Research

http://www.ehr4cr.eu/

• IMI (Innovative Medicine Initiative)– Public-Private Partnership between EU and EFPIA

• ICT platform: using EHR data for supporting clinical research

• Protocol feasibility• Patient recruitment• Clinical trial execution: Clinical Research Forms (eCRF)/

Individual Case Safety Reports (ICSR) prepopulation

• 33 European academic and industrial partners– 11 pilot sites from 5 countries – 4 millions patients



http://www.ehr4cr.eu/


Open PHACTSOpen Pharmacology Spacehttp://www.openphacts.org/

• IMI (Innovative Medicine Initiative)• 31 partners: 10 pharma – 21 academic / SME

• The Challenge - Open standards for drug discovery data – Develop robust standards for solid

integration between data sources via semantic technologies

– Implement the standards in a semantic integration hub (“Open Pharmacological Space”)

– Deliver services to support on-going drug discovery programs in pharma and public domain



http://www.openphacts.org/


SALUSSustainable Proactive Post Market Safety Studies

http://www.salusproject.eu/

• European Commission (STREP)• ICT platform : using EHRs data to improve post-

market safety activities on a proactive basis• Semi-automatic notification of suspected adverse events • Reporting adverse events (Individual Case Safety Reports

(ICSR) prepopulation)• Post Marketing safety studies

• 8 European academic and industrial partners– 2 pilot sites

• Lombardia Region (Italy) and Eastern Saxony (Germany)



http://www.salusproject.eu/


W3CSemantic Web Health Care and Life Sciences Interest

Group (HCLS IG) http://www.w3.org/2001/sw/

• ..



http://www.w3.org/2001/sw/


Mapping Representation using SKOS

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<http://purl.bioontology.org/ontology/ICD9CM/999.4> <http://www.w3.org/2004/02/skos/core#broadMatch>

<http://purl.bioontology.org/ontology/MDR/10002198>, <http://purl.bioontology.org/ontology/MDR/10002199>, <http://purl.bioontology.org/ontology/MDR/10020751>, <http://purl.bioontology.org/ontology/MDR/10067484> . <http://purl.bioontology.org/ontology/MDR/10002198> a <http://www.w3.org/2004/02/skos/core#Concept>; <http://purl.bioontology.org/ontology/MDR/level> "PT"; <http://www.w3.org/2004/02/skos/core#broader> <http://purl.bioontology.org/ontology/MDR/10002220>, <http://purl.bioontology.org/ontology/MDR/10057181>; <http://www.w3.org/2004/02/skos/core#inScheme> <http://purl.bioontology.org/ontology/MDR>; <http://www.w3.org/2004/02/skos/core#notation> "10002198"; <http://www.w3.org/2004/02/skos/core#prefLabel> "Anaphylactic reaction" . <http://purl.bioontology.org/ontology/MDR/10002199> a <http://www.w3.org/2004/02/skos/core#Concept>; <http://purl.bioontology.org/ontology/MDR/level> "PT"; <http://www.w3.org/2004/02/skos/core#broader> <http://purl.bioontology.org/ontology/MDR/10002220>, <http://purl.bioontology.org/ontology/MDR/10009193>; <http://www.w3.org/2004/02/skos/core#inScheme> <http://purl.bioontology.org/ontology/MDR>; <http://www.w3.org/2004/02/skos/core#notation> "10002199"; <http://www.w3.org/2004/02/skos/core#prefLabel> "Anaphylactic shock" . <http://purl.bioontology.org/ontology/MDR/10020751> a <http://www.w3.org/2004/02/skos/core#Concept>; <http://purl.bioontology.org/ontology/MDR/level> "PT"; <http://www.w3.org/2004/02/skos/core#broader> <http://purl.bioontology.org/ontology/MDR/10027654>; <http://www.w3.org/2004/02/skos/core#inScheme> <http://purl.bioontology.org/ontology/MDR>; <http://www.w3.org/2004/02/skos/core#notation> "10020751"; <http://www.w3.org/2004/02/skos/core#prefLabel> "Hypersensitivity" . <http://purl.bioontology.org/ontology/MDR/10067484> a <http://www.w3.org/2004/02/skos/core#Concept>; <http://purl.bioontology.org/ontology/MDR/level> "PT"; <http://www.w3.org/2004/02/skos/core#broader> <http://purl.bioontology.org/ontology/MDR/10043409>; <http://www.w3.org/2004/02/skos/core#inScheme> <http://purl.bioontology.org/ontology/MDR>; <http://www.w3.org/2004/02/skos/core#notation> "10067484"; <http://www.w3.org/2004/02/skos/core#prefLabel> "Adverse reaction" .

Mapping Provenance Representation

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:NanoPub_1_Supporting_2 = {

[ a r:Proof, r:Conjunction; r:component <#lemma1>; r:component <#lemma2>; r:component <#lemma3>; r:component <#lemma4>; r:component <#lemma5>; r:component <#lemma6>; r:gives { <http://purl.bioontology.org/ontology/ICD9CM/999.4> skos:prefLabel "Anaphylactic shock due to serum, not elsewhere classified". <http://purl.bioontology.org/ontology/SNOMEDCT/213320003> skos:prefLabel "Anaphylactic shock due to serum". <http://purl.bioontology.org/ontology/MDR/10067113> skos:prefLabel "Anaphylactic transfusion reaction". <http://purl.bioontology.org/ontology/ICD9CM/999.4> skos:exactMatch <http://purl.bioontology.org/ontology/SNOMEDCT/213320003>. <http://purl.bioontology.org/ontology/SNOMEDCT/213320003> skos:exactMatch <http://purl.bioontology.org/ontology/MDR/10067113>. <http://purl.bioontology.org/ontology/ICD9CM/999.4> skos:exactMatch <http://purl.bioontology.org/ontology/MDR/10067113>. }].…….…….…….<#lemma13> a r:Inference; r:gives {<http://purl.bioontology.org/ontology/ICD9CM/999.4> skos:exactMatch <http://purl.bioontology.org/ontology/MDR/10067113>}; r:evidence ( <#lemma11> <#lemma12>); r:binding [ r:variable [ n3:uri "http://localhost/var#x0"]; r:boundTo [ n3:uri "http://purl.bioontology.org/ontology/ICD9CM/999.4"]]; r:binding [ r:variable [ n3:uri "http://localhost/var#x1"]; r:boundTo [ n3:uri "http://purl.bioontology.org/ontology/SNOMEDCT/213320003"]]; r:binding [ r:variable [ n3:uri "http://localhost/var#x2"]; r:boundTo [ n3:uri "http://purl.bioontology.org/ontology/MDR/10067113"]]; r:rule <#lemma14>.

<#lemma14> a r:Extraction; r:gives {@forAll var:x0, var:x1, var:x2. {var:x0 skos:exactMatch var:x1. var:x1 skos:exactMatch var:x2} => {var:x0 skos:exactMatch var:x2}}; r:because [ a r:Parsing; r:source <file:///Users/sajjad/workspace/terminology-reasoning-test-case/example-term-map.n3>].}.

MIE2014: A Framework for Evaluating and Utilizing Medical Terminology Mappings

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