1. Survey of Medical Informatics CS 493 – Fall 2004 September 27, 2004

2. Health Care Data Standards Chapter 4: Patient Safety - Achieving a New Standard of Care. IOM Report

3. Terminology Standards

4. Why terminology standards? Standardized terminologies facilitate:  Electronic data collection  Retrieval of relevant data or knowledge  Allows data to be reused for multiple purposes such as syndromatic surveillance, clinical decision support and quality and cost monitoring

5. Criteria for terminologies Technical Criteria used by NCVHS for evaluating and selecting terminologies  Page 145 – Table 4-2 CHI focus areas  Page 146 – Table 4-3

6. Terminology Standards November 13, 2003 – NCVHS recommends:  the adoption of SNOMED CT as the terminology of choice for representing clinical terms  LOINC is endorsed as the standard to use for Laboratory concepts coding  RxNORM  National Drug File Clinical Drug Reference Terminology (NDF RT)  Also have recommended the adoption of ICD-10 January 29, 2004 – CHI endorses SNOMED CT for anatomy, nursing, diagnosis and problems, and non-lab interventions and procedures

7. Overview of Core and Supplemental Terminologies Box 4-1  Pages 150-151 Figure 4-4  Page 157

8. Unified Medical Language System UMLS Presentation Source Material: Oliver Bodenreider: “The Unified Medical Language System (UMLS) integrating biomedical terminologies,” Nucleic Acids Research, 2004, Vol. 32, Database issue D267-D270

9. UMLS Repository of Biomedical Vocabularies It integrates  2 million names  900,000 concepts  60 families of biomedical vocabularies  12 million relations among concepts

10. UMLS Metathesaurus Sample vocabularies integrated here:  NCBI taxonomy  Gene Ontology  The Medical Subject Headings (MeSH)  OMIM  Digital Anatomist Symbolic Knowledge Base  ICD-9  CPT

11. UMLS Metathesaurus Repository of biomedical concepts drawn from all the different terminologies integrated

12. Figure Source Material: Oliver Bodenreider: “The Unified Medical Language System (UMLS) integrating biomedical terminologies,” Nucleic Acids Research, 2004, Vol. 32, Database issue D267-D270 National Center For Biotechnology Information Online Mendelian Inheritance in Man University of Washington Digital Anatomist Gene Ontology

13. Terminology Integration Principles Knowledge organized by concept/meaning Synonymous terms associated with concepts Concepts can be linked to other concepts Hierarchical, part-of, inheritance, associative links and statistical relations between concepts are represented in the Metathesauraus. Each Metathesauraus concept is categorized currently into one of 135 high-level categories

14. Structure of Metathesaurus Allows  Collecting terms associated with a particular concept  Exploring relationship between concepts  Browsing the concepts associated with a particular category

15. Section of the UMLS Semantic Network Source: http://www.nlm.nih.gov/research/umls/META3_Figure_1.html

16. Section of the UMLS Semantic Network

17. UMLS Tools MetamorphoSys – helps users customize Metathesaurus lvg : a program to generate lexical variants MetaMap : extracts Metathesaurus concepts from text

18. LOINC Source: “LOINC, a Universal Standard for Identifying Laboratory Observations: A 5-Year Update” Clement J. McDonald, Stanley M. Huff, et. al. Clinical Chemistry 49:4, 624-633 (2003) http://www.clinchem.org/cgi/reprint/49/4/624

19. Logical Observation Identifiers Names and Codes Started by a group of researchers who met in 1994 in Regenstrief Institute 1995 first release of 6000 laboratory test results 17 releases since then Regenstrief LOINC Mapping Assistant (RELMA)

20. Examples LOINC codes for partial pressure of arterial blood oxygen (Po 2 ) and percentage lymphocytes EKG measurements Vital signs LOINC only codes for observation types not the values that are associated with a particular test

25. Knowledge Representation Clinical Guideline Representation Model

26. Clinical Guidelines National Guideline Clearinghouse  contains 1,000 publicly accessible guidelines Box 4-2 pg. 159