Identifying disease-centric subdomains in very large medical ontologies: A case-study on breast cancer concepts in SNOMED CT. Or: Finding 2500 out of 300.000

K. Milian, Z. Aleksovski, R. Vdovjak, A.C.M. ten Teije, F.A.H. van Harmelen

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Abstract

Modern medical vocabularies can contain up to hundreds of thousands of concepts. In any particular use-case only a small fraction of these will be needed. In this paper we first define two notions of a disease-centric subdomain of a large ontology. We then explore two methods for identifying disease-centric subdomains of such large medical vocabularies. The first method is based on lexically querying the ontology with an iteratively extended set of seed queries. The second method is based on manual mapping between concepts from a medical guideline document and ontology concepts. Both methods include concept-expansion over subsumption and equality relations. We use both methods to determine a breast-cancer-centric subdomain of the SNOMED CT ontology. Our experiments show that the two methods produce a considerable overlap, but they also yield a large degree of complementarity, with interesting differences between the sets of concepts that they return. Analysis of the results reveals strengths and weaknesses of the different methods.

Original languageEnglish
Title of host publicationKnowledge Representation for Health-Care: Data, Processes and Guidelines, AIME 2009, Workshop KR4HC 2009, Revised Selected and Invited Papers
EditorsD. Riano, A.C.M. ten Teije, S. Miksch, M. Peleg
Place of PublicationVerona, Italy
Pages50-63
Number of pages14
DOIs
Publication statusPublished - 2010
EventWorkshop on Knowledge Representation for Health-Care: Data, Processes and Guidelines, KR4HC 2009. Held in Conjunction with the 12th Conference on Artificial Intelligence in Medicine, AIME 2009 - Verona, Italy
Duration: 19 Jul 200919 Jul 2009

Publication series

NameLecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
Volume5943 LNAI
ISSN (Print)03029743
ISSN (Electronic)16113349

Conference

ConferenceWorkshop on Knowledge Representation for Health-Care: Data, Processes and Guidelines, KR4HC 2009. Held in Conjunction with the 12th Conference on Artificial Intelligence in Medicine, AIME 2009
CountryItaly
CityVerona
Period19/07/0919/07/09

Keywords

  • Disease related concepts
  • Identifying ontology subdomain
  • Mapping medical terminologies
  • Medical guidelines
  • Ontology subsetting
  • Seed queries

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