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Terminology in the Medical Domain

Terminology in the Medical Domain. Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com. Outline. What is a “terminology”? Medical terminologies - 100,000 ft. intro Medical Terminologies - Issues Possible Synergies between NCITS/L8 and Medical Terminologies.

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Terminology in the Medical Domain

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  1. Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

  2. Outline • What is a “terminology”? • Medical terminologies - 100,000 ft. intro • Medical Terminologies - Issues • Possible Synergies between NCITS/L8 and Medical Terminologies.

  3. What is a “terminology”? The lexicon of a special subject language reflects the organisational characteristics of the discipline by tending to provide as many lexical units as there are concepts… Juan C. Sager, A Practical Course in Terminology Processing. John Benjamins, 1990

  4. What is a “terminology”? The items which are characterised by special reference within a discipline are the ‘terms’ of the discipline, and collectively they form its ‘terminology’; those which function in general reference over a variety of sublanguages are simply called ‘words’, and their totality the ‘vocabulary’. Juan C. Sager. A Practical Course in Terminology Processing

  5. What is a “terminology”? • Subject field - Section of human knowledge, the border lines which are defined from a purpose-related point of view. • Special language - Linguistic subsystem, intended for unambiguous communication in a particular subject field using a terminology and other linguistic means. ISO 1087 (1990) Terminology - Vocabulary

  6. What is a “terminology”? • System of concepts - Structured set of concepts established according to the relations between them, each concept being determined by its position in this set. • Term - Designation of a defined concept in a special language by a linguistic expression. • Terminology - Set of terms representing the system of concepts of a particular subject field. ISO 1087 (1990) Terminology - Vocabulary

  7. What is a terminology? • Key characteristics • Set of terms, definitions and relationships for a (relatively) non-ambiguous partitioning of the conceptual space of a specialized subject area or discipline. • NOT necessarily related to computerized data processing (or even data processing, period)

  8. Related Terms Nomenclature A system of terms which is elaborated according to pre-established naming rules. • Plants • Animals • Chemical compounds • ... ISO 1087 (1990) Terminology - Vocabulary

  9. Related Terms Thesaurus … a terminological control device used in translating from the natural language of documents, indexers, or users into a more constrained “system language”. … A controlled and dynamic vocabulary of semantically and generically related terms which covers a specific domain of knowledge ISO 2788 (1974) Guidelines for the establishment and development of monolingual thesauri

  10. Related Terms Coding System A coding system shall be a combination of: a system of concepts; a terminology (rubrics); a set of code values; at least one coding scheme to relate the codes to the concepts or the terms. CEN ENV 12264: 1995 (MoSe) Medical informatics - Categorial structures of systems of concepts - Model for representation of semantics

  11. Related Terms Taxonomy A terminological system whose system of concepts is structured by generic relations only. CEN ENV 12264: 1995 (MoSe) Medical informatics - Categorial structures of systems of concepts - Model for representation of semantics

  12. Why Terminology? CONCEPT CONCEPT Symbolises Refers To Refers To Symbolises ROSE ROSE Stands For Stands For Designation Designation Referent Rose(2) 1 a: Websters Collegiate Dictionary Tenth Edition Rose(2) 1 a: Websters Collegiate Dictionary Tenth Edition

  13. Medical Terminologies Health care and medicine consists a set of specialized disciplines. It has been reasonably standardized (at least in the Western world) to the point that the conceptual space(s) of the discipline are (somewhat) well agreed upon.

  14. Medical Terminologies • Terminologies exist for many areas: • Disease classification • Diagnosis • Anatomy • Procedures • Pathology • Pharmacy • Laboratory • Interventions • ...

  15. Medical Terminologies • Terminologies exist for different (and possibly conflicting) purposes • Classification and Statistics Gathering • Billing, Auditing and Reimbursement • Recording Clinical Information and Findings • Automated Decision Support • ...

  16. A Classification of Medical Terminologies • “First Generation” terminological systems • Typically targeted for paper based information systems (not “IT-enabled”) • Simple hierarchies and organization • Expensive to maintain and reuse Angelo Rossi Mori, et. al. Standards to support development of terminological systems for healthcare telematics.

  17. A Classification of Medical Terminologies • “Second Generation” terminological systems • Compositional systems, based on a categorial structure (semantic categories, semantic links [associations between categories]) • Dynamic organization, systematic description of a subject field • Flexible and extensible • Limited semantic based processing

  18. A Classification of Medical Terminologies • “Third Generation” terminological systems • Based on a formal model (a set of symbols and a set of formal rules) • Dynamic w/ multiple hierarchies • Content and updates are formally validated • Complete semantic based processing (behavior is independent of names)

  19. Medical Terminologies • Some more common medical terminologies • International Classification of Diseases (ICD-9, ICD-9-CM, ICD-10, ...) • Current Procedural Terminology (CPT-4) • Systemized Nomenclature of Human and Veterinary Medicine (SNOMED) • National Drug Codes (NDC) • World Health Organization Adverse Drug Reaction Terminology • Logical Observations Identifiers, Names and Codes (LOINC) • Nursing Interventions Classification (NIC) • Nursing Outcomes Classification (NOC) • Universal Medical Device Nomenclature System (UMDNS ) • Medical Dictionary for Regulatory Activities (MeDRA) • Health Care Financing Administration Common Procedure Coding Scheme (HCPCS)

  20. Medical Terminologies • Current Unification efforts • Unified Medical Language System • Metathesaurus • Semantic Network • … • SNOMED-RT (Reference Terminology)

  21. Medical Terminologies • Current Unification Efforts • UK Clinical Codes (Read) • GALEN

  22. Medical Terminologies • Current Unification Efforts UMLS Galen SMOMED-RT UK Clinical Codes

  23. Medical TerminologiesStandards Bodies • ASTM E.31.01 Controlled Vocabularies for Healthcare Informatics • Standardize existing High Level principles for the contents and structure of Controlled Health Vocabularies. • Develop a description and comparison of existing formalisms for health concept representation. • Develop a standard formalism for Controlled Health Vocabularies. • Work toward a standard model for vocabulary evolution, maintenance, and distribution. • Work to develop mechanisms to facilitate international use of common underlying formal structures for Controlled Health Vocabularies

  24. Medical TerminologiesSome Standardization Efforts • ISO TC/215 Working Group 3 - Health Concept Representation • Terminology of terminology

  25. Medical TerminologiesStandards Bodies • CEN TC/251 WGII • The semantic organisation of information so as to make it of practical use in the domains of healthcare informatics. The actual work items focuses on interrelationships of concepts and on structures for concepts systems. • Terms, Concepts and the interrelationship of concepts; • Structures for concepts systems including those for multi-axial coding schemes; • Guidelines for the production of coding systems and knowledge bases.

  26. Medical TerminologiesSome Standards Bodies • HL7 Vocabulary Technical Committee Scope: To identify, organize and maintain coded vocabulary terms used in HL7 messages.

  27. Medical TerminologiesSome Standards Bodies • Healthcare Informatics Standards Board • Vocabularies and code sets ad-hoc working group • Focus on code set inventory and education

  28. Medical Terminologies Some Issues • Harmonization of the terminology of terminology • ISO TC37 - Terminology (terms + definitions) • ISO TC46 - Documentation (thesaurus) • ISO TC69 - Statistics • ISO/IEC JTC1 - Informatics • CEN TC/251 - Medical Informatics

  29. Medical Terminology Some Issues • Semantics of associations • O-O analysis, data-bases and programming - implementation oriented • RM/ODP - ISO/IEC ISO/IEC 10165-7 • Concept analysis/description logies • CSMF, etc - ISO/IEC 9007, 14481 • Traditional terminologists • linguistically oriented theories

  30. Medical Terminology Some Issues • ROI and pricing structure • Does creating a code mean that you own the concept? • How do we encourage development of rigorous terminologies without making them too expensive to use?

  31. Medical TerminologySome Issues • A coding scheme for coding schemes (bootstrap issue) • ICD-9? I9? IC9? SNOMED? SMD? ISMarc? • CEN TC/251 1068 (Registration of Coding Schemes) - superceded by ISO 7826 • ISO 7826 (Identification and Registration of Coding Schemes) - broken • NCITS/L8 - Not currently in scope

  32. Medical TerminologiesSome Issues • The relationship of terminologies to metadata • Structure issues: • Patient Gender: F • Patient Gender F: Y Patient Gender M: N • Tag: Gender Value: F • Transformation and binding issues • How do the two relate on the meta level?

  33. Medical Terminology Direction Terminologies and Coding Schemes Metadata

  34. NCITS/L8 Directions Terminologies and Coding Schemes Metadata

  35. Some Possible Points of Cooperation • Medical Terminologies • Body of knowledge and research on terminological structure and content • Medical Terminology itself • Research and practical experience in terminology/metadata integration • Galen (Alan Rector, et. al.) • CEN TC/251 PT-27 (Angelo Rossi-Mori, et. al) • HL7 (Stan Huff, et. al.)

  36. Some Possible Points of Cooperation • NCITS/L8 • X3.285 Metadata Model • Value Domains work • Registry models and implementations • Ties with XML/RDF • ???

  37. A Few ReferencesBooks • Juan C. Sager - A Practical Course in Terminology Processing. 1990, John Benjamins Publishing • C.K. Ogden, I.A. Richards - The Meaning of Meaning 1923 - (republished) Harcourt, Brace & World, Inc. • John Sowa - Conceptual Structures: Information Processing in Mind and Machine. 1984 Addison-Wesley • Umberto Eco - Semiotics and the Philosophy of Language. 1984. Indiana University Press • George Lakoff - Women, Fire and Dangerous Things - What Categories Reveal about the Mind. 1987. University of Chicago Press

  38. A Few ReferencesURL’s • ASTM E.31 Home Page • http://www.astm.org/COMMIT/e-31.htm#sponsor • CEN TC/251 Home Page • http://www.centc251.org/ • HL7 Home Page • http://www.hl7.org/ • Angelo Rossi-Mori’s Terminology Home Page • http://gift.irmkant.rm.cnr.it/termhome.htm • The Duke medical standards home page • http://www.mcis.duke.edu/standards/guide.htm

  39. Other Publications • Proceedings of IMIA WG6 - Conference on Natural Language and Medical Concept Representation • CG Chute, RH Baud, JJ Cimino, VL Patel, AL Rector, Guest Editors. Methods of Information in Medicine 1998;37(4-5):311-575. Special Issue on Coding and Language Processing

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