Terminology in the Medical

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

 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

 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
 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)
 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

 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
 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
 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
 Why Terminology?

CONCEPT CONCEPT

Symbolises
Refers To Symbolises Refers To

ROSE ROSE
Stands For Stands For
Referent Designation Designation

Rose(2) 1 a: Rose(2) 1 a:
Websters Collegiate Dictionary Websters Collegiate Dictionary
Tenth Edition Tenth Edition
 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.
 Medical Terminologies
• Terminologies exist for many areas:
– Disease classification
– Diagnosis
– Anatomy
– Procedures
– Pathology
– Pharmacy
– Laboratory
– Interventions
– ...
 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
– ...
 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.
 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
 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)
 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)
 Medical Terminologies
• Current Unification efforts
– Unified Medical Language System
• Metathesaurus
• Semantic Network
•…
– SNOMED-RT (Reference Terminology)
 Medical Terminologies
• Current Unification Efforts
– UK Clinical Codes (Read)
– GALEN
 Medical Terminologies
• Current Unification Efforts
 Medical Terminologies
Standards 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
 Medical Terminologies
Some Standardization Efforts
• ISO TC/215 Working Group 3 - Health
Concept Representation
– Terminology of terminology
 Medical Terminologies
Standards 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.
 Medical Terminologies
Some Standards Bodies
• HL7 Vocabulary Technical Committee

Scope: To identify, organize and maintain coded

vocabulary terms used in HL7 messages.
 Medical Terminologies
Some Standards Bodies
• Healthcare Informatics Standards Board
– Vocabularies and code sets ad-hoc working
group
• Focus on code set inventory and education
 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
 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
 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?
 Medical Terminology
Some 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
 Medical Terminologies
Some 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?
 Medical Terminology Direction

Terminologies and Metadata

Coding Schemes
 NCITS/L8 Directions

Metadata Terminologies and

Coding Schemes
 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.)
 Some Possible Points of
Cooperation
• NCITS/L8
– X3.285 Metadata Model
– Value Domains work
– Registry models and implementations
– Ties with XML/RDF
– ???
 A Few References
Books
• 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
 A Few References
URL’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
 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