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

Terminology in the Medical Domain

Harold Solbrig

3M Health Information Systems

[email protected]

Page 2: 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.

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

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

Page 4: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 5: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 6: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 7: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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)

Page 8: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 9: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 10: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 11: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 12: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Why Terminology?

CONCEPT

Referent

Refers ToSymbolises

Stands ForROSE

Refers ToSymbolises

Stands For

ROSE

CONCEPT

Designation Designation

Rose(2) 1 a:Websters Collegiate DictionaryTenth Edition

Rose(2) 1 a:Websters Collegiate DictionaryTenth Edition

Page 13: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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.

Page 14: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Medical Terminologies

• Terminologies exist for many areas:– Disease classification

– Diagnosis

– Anatomy

– Procedures

– Pathology

– Pharmacy

– Laboratory

– Interventions

– ...

Page 15: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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– ...

Page 16: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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.

Page 17: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 18: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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)

Page 19: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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)

Page 20: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Medical Terminologies

• Current Unification efforts– Unified Medical Language System

• Metathesaurus

• Semantic Network

• …

– SNOMED-RT (Reference Terminology)

Page 21: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Medical Terminologies

• Current Unification Efforts– UK Clinical Codes (Read)– GALEN

Page 22: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Medical Terminologies

• Current Unification Efforts

Page 23: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 24: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Medical TerminologiesSome Standardization Efforts

• ISO TC/215 Working Group 3 - Health Concept Representation– Terminology of terminology

Page 25: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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.

Page 26: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Medical TerminologiesSome Standards Bodies

• HL7 Vocabulary Technical Committee

Scope: To identify, organize and maintain coded vocabulary terms used in HL7 messages.

Page 27: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Medical TerminologiesSome Standards Bodies

• Healthcare Informatics Standards Board– Vocabularies and code sets ad-hoc working

group• Focus on code set inventory and education

Page 28: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 29: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 30: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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?

Page 31: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 32: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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?

Page 33: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Medical Terminology Direction

Terminologies andCoding Schemes

Metadata

Page 34: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

NCITS/L8 Directions

Terminologies andCoding Schemes

Metadata

Page 35: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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.)

Page 36: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

Some Possible Points of Cooperation

• NCITS/L8– X3.285 Metadata Model– Value Domains work– Registry models and implementations– Ties with XML/RDF– ???

Page 37: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 38: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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

Page 39: Terminology in the Medical Domain Harold Solbrig 3M Health Information Systems hrsolbrig@wpmail.code3.com

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