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DOI: 10.15265/IYS-2016-s037
Health Concept and Knowledge Management: Twenty-five Years of Evolution
Publication History
02 August 2016
Publication Date:
06 March 2018 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00034612/2016S01/lookinside/thumbnails/10-15265-iys-2016-s037-1.jpg)
Summary
Objectives: The fields of health terminology, classification, ontology, and related information models have evolved dramatically over the past 25 years. Our objective was to review notable trends, described emerging or enabling technologies, and highlight major terminology systems during the interval.
Methods: We review the progression in health terminology systems informed by our own experiences as part of the community involved in this work, reinforced with literature review and citation.
Results: The transformation in size, scope, complexity, and adoption of health terminological systems and information models has been tremendous, on the scale of orders of magnitude.
Conclusion: The present “big science” era of inference and discovery in biomedicine would not have been possible or scalable absent the growth and maturation of health terminology systems and information models over the past 25 years.
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References
- 1 Editors.. What’s In a Name?. JAMA 1965; 1 93 (Suppl. 10) 831-2.
- 2 Chute CG. Clinical classification and terminology: some history and current observations. J Am Med Inform Assoc 2000; 7 (Suppl. 03) 298-303.
- 3 Baader F. The description logic handbook : theory, implementation, and applications. Cambridge, UK ; New York: Cambridge University Press; 2003
- 4 Cimino JJ. Desiderata for controlled medical vocabularies in the twenty-first century. Methods Inf Med 1998; 37 4-5 394-403.
- 5 Graunt J, Petty W. Natural and political observations mentioned in a following index, and made upon the bills of mortality. London: Printed by Tho. Roycroft, for John Martin, James Allestry, and Tho. Dicas; 1662
- 6 Vladeck BC. Diagnostic-related groups. JAMA 1982; 247 (Suppl. 24) 3314-5.
- 7 Chute C, Ustun B. ICD-11 Preview. In: Giannangelo K. ed. Healthcare Code Sets, Clinical Terminologies, and Classification Systems, 3rd Edition. Chicago: AHIMA; 2014: 128-37.
- 8 Rodrigues JM, Robinson D, Della Mea V, Campbell J, Rector A, Schulz S. et al. Semantic Alignment between ICD-11 and SNOMED CT. Stud Health Technol Inform 2015; 216: 790-4.
- 9 Rodrigues JM, Schulz S, Rector A, Spackman K, Millar J, Campbell J. et al. ICD-11 and SNOMED CT Common Ontology: circulatory system. Stud Health Technol Inform 2014; 205: 1043-7.
- 10 Chang HY, Weiner JP. An in-depth assessment of a diagnosis-based risk adjustment model based on national health insurance claims: the application of the Johns Hopkins Adjusted Clinical Group case-mix system in Taiwan. BMC medicine 2010; 8: 7.
- 11 Haas LR, Takahashi PY, Shah ND, Stroebel RJ, Bernard ME, Finnie DM. et al. Risk-stratification methods for identifying patients for care coordination. Am J Manag Care 2013; 19 (Suppl. 09) 725-32.
- 12 Meyboom-de Jong BM, Smith RJ. How do we classify functional status?. Fam Med 1992; 24 (Suppl. 02) 128-33.
- 13 Functional status measures in general practice.. WONCA Classification Committee. Aust Fam Physician 1991; 20 (Suppl. 06) 846 848, 850-1.
- 14 World Health Organization.. World Health Assembly. International classification of impairments, disabilities, and handicaps : a manual of classification relating to the consequences of disease. Geneva: World Health Organization; 1980
- 15 World Health Organization.. ICIDH-2 : International classification of impairments, activities and participation : a manual of dimensions of disablement and functioning : Beta-1 draft for field trials June 1997 : includes basic Beta-1 field trial forms. Geneva: The Organization; 1997
- 16 World Health Organization.. International classification of functioning, disability and health : ICF. Geneva: World Health Organization; 2001
- 17 Smith B, Ashburner M, Rosse C, Bard J, Bug W, Ceusters W. et al. The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration. Nat Biotechnol 2007; 25 (Suppl. 11) 1251-5.
- 18 Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM. et al. Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 2000; 25 (Suppl. 01) 25-9.
- 19 Gene Ontology Consortium.. Documentation. 2016 http://geneontology.org/page/documentation.
- 20 Cote RA. Ending the classification versus nomenclature controversy. Med Inform (Lond) 1983; 8 (Suppl. 01) 1-4.
- 21 Côté RA. College of American Pathologists.. Systematized nomenclature of medicine. 2d ed. Skokie, Ill.: The College; 1979
- 22 Cote RA, Robboy S. Progress in medical information management. Systematized nomenclature of medicine (SNOMED). JAMA 1980; 243 (Suppl. 08) 756-62.
- 23 Côté RA. College of American Pathologists.. SNOMED International : the systematized nomenclature of human and veterinary medicine. 3rd ed. Northfield, Ill. Schaumberg, Ill.: College of American Pathologists American Veterinary Medical Association; 1993
- 24 Chute CG, Cohn SP, Campbell KE, Oliver DE, Campbell JR. The content coverage of clinical classifications. For The Computer-Based Patient Record Institute’s Work Group on Codes & Structures. J Am Med Inform Assoc 1996; 3 (Suppl. 03) 224-33.
- 25 Evans DA, Cimino JJ, Hersh WR, Huff SM, Bell DS. Toward a medical-concept representation language. The Canon Group. J Am Med Inform Assoc 1994; 1 (Suppl. 03) 207-17.
- 26 Campbell KE, Cohn SP, Chute CG, Rennels G, Shortliffe EH. Galapagos: computer-based support for evolution of a convergent medical terminology. Proceedings : a conference of the American Medical Informatics Association /... AMIA Annual Fall Symposium. AMIA Fall Symposium. 1996: 269-73
- 27 Campbell KE, Cohn SP, Chute CG, Shortliffe EH, Rennels G. Scalable methodologies for distributed development of logic-based convergent medical terminology. Methods Inf Med 1998; 37 4-5 426-39.
- 28 Spackman KA, Dionne R, Mays E, Weis J. Role grouping as an extension to the description logic of Ontylog, motivated by concept modeling in SNOMED. Proceedings / AMIA ... Annual Symposium. AMIA Symposium 2002; 712-6.
- 29 World Wide Web Consortium (W3C).. EL. 2007 https://www.w3.org/2007/OWL/wiki/EL.
- 30 Symmons DP, Dawes PT. The clinical terms project. Br J Rheumatol 1992; 31 (Suppl. 11) 723-4.
- 31 Stannard CF. Clinical terms project: a coding system for clinicians. Br J Hosp Med 1994; 52 (Suppl. 01) 46-8.
- 32 Brown PJ, Price C. Semantic based concept differential retrieval & equivalence detection in clinical terms version 3 (Read Codes). Proceedings / AMIA ... Annual Symposium. AMIA Symposium 1999; 27-31.
- 33 Wang AY, Barrett JW, Bentley T, Markwell D, Price C, Spackman KA. et al. Mapping between SNOMED RT and Clinical terms version 3: a key component of the SNOMED CT development process. Proceedings / AMIA ... Annual Symposium. AMIA Symposium 2001; 741-5.
- 34 Stearns MQ, Price C, Spackman KA, Wang AY. SNOMED clinical terms: overview of the development process and project status. Proceedings / AMIA ... Annual Symposium. AMIA Symposium 2001; 662-6.
- 35 Lee D, Cornet R, Lau F, de Keizer N. A survey of SNOMED CT implementations. J Biomed Inform 2013; 46 (Suppl. 01) 87-96.
- 36 Lee D, de Keizer N, Lau F, Cornet R. Literature review of SNOMED CT use. J Am Med Inform Assoc 2014; 21 e1 e11-19.
- 37 Green LA. Read Codes: a tool for automated medical records. J Fam Pract 1992; 34 (Suppl. 05) 633-4.
- 38 Forrey AW, McDonald CJ, DeMoor G, Huff SM, Leavelle D, Leland D. et al. Logical observation identifier names and codes (LOINC) database: a public use set of codes and names for electronic reporting of clinical laboratory test results. Clin Chem 1996; 42 (Suppl. 01) 81-90.
- 39 National Library of Medicine.. Unified Medical Language System® (UMLS®): Metathesaurus. 2016 https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/
- 40 Lindberg DA, Humphreys BL, McCray AT. The Unified Medical Language System. Methods Inf Med 1993; 32 (Suppl. 04) 281-91.
- 41 Humphreys BL, Lindberg DA. The UMLS project: making the conceptual connection between users and the information they need. Bull Med Libr Assoc 1993; 81 (Suppl. 02) 170-7.
- 42 Lindberg DA, Humphreys BL. “You have to be there”: twenty-five years of SCAMC/AMIA symposia. J Am Med Inform Assoc 2002; 9 (Suppl. 04) 332-45.
- 43 National Library of Medicine.. Unified Medical Language System® (UMLS®): SPECIALIST Lexicon. 2012 www.nlm.nih.gov/pubs/factsheets/umlslex.html
- 44 McCray AT, Srinivasan S. Automated access to a large medical dictionary: online assistance for research and application in natural language processing. Comput Biomed Res 1990; 23 (Suppl. 02) 179-98.
- 45 Wikipedia.. Stemming. 2016 https://en.wikipedia.org/wiki/Stemming
- 46 McCray AT, Srinivasan S, Browne AC. Lexical methods for managing variation in biomedical terminologies. Proc Annu Symp Comput Appl Med Care 1994; 235-9.
- 47 National Library of Medicine.. The NORM program. 2014 http://www.nlm.nih.gov/research/umls/new_users/online_learning/LEX_005.html
- 48 National Library of Medicine.. Lexical Variant Generation (LVG). 2014 https://www.nlm.nih.gov/research/umls/new_users/online_learning/LEX_004.html.
- 49 Musen MA, Noy NF, Shah NH, Whetzel PL, Chute CG, Story MA. et al. The National Center for Biomedical Ontology. J Am Med Inform Assoc 2012; 19 (Suppl. 02) 190-5.
- 50 National Center for Biomedical Ontology.. BioPortal. 2016 http://bioportal.bioontology.org.
- 51 Noy NF, Shah NH, Whetzel PL, Dai B, Dorf M, Griffith N. et al. BioPortal: ontologies and integrated data resources at the click of a mouse. Nucleic Acids Res 2009; 37 Web Server issue W170-173.
- 52 Weed LL. Medical Records That Guide and Teach. New Engl J Med 1968; 278 (Suppl. 11) 593-600.
- 53 ISO.. Health informatics -- Detailed clinical models, characteristics and processes. 2015 www.iso.org/iso/catalogue_detail.htm?csnumber=62416.
- 54 Clinical Information Modeling Initiative.. CIMI. 2015 http://opencimi.org/b.
- 55 HL7.. Fast Healthcare Interoperability Resources (FHIR). 2015 http://www.hl7.org/fhir.
- 56 Blumenthal D, Tavenner M. The “meaningful use” regulation for electronic health records. N Engl J Med 2010; 363 (Suppl. 06) 501-4.
- 57 Office of the National Coordinator for Health Information Technology Interoperability.. Interoperability Standards Advisory (ISA). 2016 https://www.healthit.gov/standards-advisory.
- 58 Health Level Seven.. HL7 Version 3 Standard: Data Types - Abstract Specification, Release 2. 2016 www.hl7.org/implement/standards/product_brief.cfm?product_id=264
- 59 ISO.. Health informatics -- Harmonized data types for information interchange. 2011 http://www.iso.org/iso/iso_catalogue/catalogue_tc/catalogue_detail.htm?csnumber=35646">
- 60 Health Level Seven.. Value Set Codes for FHIR Datatypes. 2016 https://www.hl7.org/fhir/DSTU1/data-types.html.
- 61 Chute CG, Cohn SP, Campbell JR. A framework for comprehensive health terminology systems in the United States: development guidelines, criteria for selection, and public policy implications. ANSI Healthcare Informatics Standards Board Vocabulary Working Group and the Computer-Based Patient Records Institute Working Group on Codes and Structures. J Am Med Inform Assoc 1998; 5 (Suppl. 06) 503-10.
- 62 HL7 and the European Commission.. Trillium Bridge. 2016 http://www.trilliumbridge.eu.
- 63 Minsky M. A framework for representing knowledge. In: Winston P. editor. The Psychology of Computer Vision. New York: McGraw-Hill; 1975. p. 211-77
- 64 Stefik M, Bobrow DG, Mittal S, Conway L. Knowledge programming in LOOPS. The AI Magazine 1983; 3-13.
- 65 Ogbuji C, Blackstone E, Pierce C. Case Study: A Semantic Web Content Repository for Clinical Research. 2007 www.w3.org/2001/sw/sweo/public/UseCases/ClevelandClinic/. Accessed 2016-02-20, 2016
- 66 Schulz S, Hahn U. Medical knowledge reengineering - converting major portions of the UMLS into a terminological knowledge base. Int J Med Inform 2001; 64 2-3 207-21.
- 67 Woods W. The KL-ONE Family. Computers & Mathematics with Applications 1992; 23: 133-77.
- 68 Haimowits IJ, Patil RS, Szolovits P. Representing Medical Knowledge in a Terminological Language is Difficult. Paper presented at: Twelfth Symposium on Computer Applications in Medical Care 1988 Los Angeles:
- 69 Schmidt-Schauß M, Smolka G. Attributive concept descriptions with complements. Artif Intell 1991; 48 (Suppl. 01) 1-26.
- 70 Rector AL, Nowlan WA. The GALEN project. Comput Methods Programs Biomed 1994; 45 1-2 75-8.
- 71 Patel-Schneider P, Swartout B. Description-Logic Knowledge Representation System Specification from the KRSS Group of the ARPA Knowledge Sharing Effort. KRSS Group of the ARPA Knowledge Sharing Effort; 1 november 1993; 1993
- 72 Spackman KA, Campbell KE, Cote RA. SNOMED RT: a reference terminology for health care. Paper presented at: Proceedings of the 1997 AMIA Annual Fall Symposium 1997 Nashville, TN, USA:
- 73 Wroe C, Stevens R, Goble C, Ashburner M. An Evolutionary Methodology To Migrate The Gene Ontology To A Description Logic Environment Using DAML+OIL. Paper presented at: Pro 8th Pacific Symposium on Biocomputing (PSB) 2003 Hawaii:
- 74 Patel-Schneider PF, Hayes P, Horrocks I. OWL Web Ontology Language Semantics and Abstract Syntax. 2004 www.w3.org/TR/2004/REC-owl-semantics-20040210/syntax.html Accessed 2016-02-20, 2016
- 75 Grosso WE, Eriksson H, Fergerson RW, Gennari JH, Tu SW, Musen MA. Knowledge Modeling at the Millennium (The Design and Evolution of Protégé 2000). Paper presented at: 12th International Workshop on Knowledge Acquisition, Modeling and Management (KAW’99)1999 Banff, Canada:
- 76 Smith B. Workshop on description logics and reasoning about patient data. 2004 ontology.buffalo.edu/04/DLs_and_Medicine. Accessed 2016-02-20 2016
- 77 Dentler K, Cornet R, Teije At, Keizer Nd.. Comparison of Reasoners for large Ontologies in the OWL 2 EL Profile. Semantic Web 2011; 2 (Suppl. 02) 71-87.
- 78 Whetzel PL, Noy NF, Shah NH, Alexander PR, Nyulas C, Tudorache T. et al. BioPortal: enhanced functionality via new Web services from the National Center for Biomedical Ontology to access and use ontologies in software applications. Nucleic Acids Res 2011; 39 Web Server issue W541-545.
- 79 Austin T, Sun S, Hassan T, Kalra D. Evaluation of ISO EN 13606 as a result of its implementation in XML. Health Informatics J 2013; 19 (Suppl. 04) 264-80.
- 80 Adamusiak T, Bodenreider O. Quality assurance in LOINC using Description Logic. AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium 2012; 2012: 1099-108.
- 81 Vreeman D. Draft LOINC-SNOMED CT Mappings and Expression Associations Now Available. 2014 https://loinc.org/news/draft-loinc-snomedct-mappings-and-expression-associations-nowavailable.html. Accessed 2016-02-20.
- 82 Janowicz K, Hitzler P, Adams B, Kolas D, II CV. Five Stars of Linked Data Vocabulary Use. Semantic Web Journal 2014; 5 (Suppl. 03) 173-6.
- 83 Zeng Z, Shi H, Wu Y, Hong Z. Survey of Natural Language Processing Techniques in Bioinformatics. Comput Math Methods Med 2015; 2015: 674296.