Notes
Outline
Slide 1
The Problem  Adrenal gland diseases
Outline
Case study:
Unified Medical Language System (UMLS)
History
Overview
Benefits
Limitations
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Motivation
Started in 1986
National Library of Medicine
“Long-term R&D project”
Complementary to IAIMS
UMLS research team
Bill Hole
L. Kingsland III
Dan Masys
Alexa McCray
Stuart Nelson
Roy Rada
Rick Rodgers
Peri Schuyler
Brigham & Women’s H.
Carnegie-Mellon Univ.
Columbia Univ.
Lexical Technology, Inc.
Massachusetts General H.
UCSF
Univ. of Pittsburgh
Univ. of Utah
[…]
UMLS chronology
Definition of 3 knowledge sources (1986-88)
Metathesaurus
Semantic Network
Information Sources Map
Building, distributing, and testing (1989-91)
Integration vs. ad hoc development
First release in 1990
Development of applications (1992-94)
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Biomedical terminologies
Core vocabularies
anatomy (UWDA, Neuronames)
drugs (First DataBank, Micromedex)
medical devices (UMD, SPN)
Several perspectives
clinical terms (SNOMED, CTV3)
information sciences (MeSH, CRISP)
administrative terminologies (ICD-9-CM, CPT-4)
standards (HL7, LOINC)
Biomedical terminologies  (cont’d)
Specialized vocabularies
nursing (NIC, NOC, NANDA, Omaha, PCDS)
dentistry (CDT)
oncology (PDQ)
psychiatry (DSM, APA)
adverse reactions (COSTART, WHO ART)
primary care (ICPC)
Knowledge bases (AI/Rheum, DXplain, QMR)
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UMLS
Two-level structure
Semantic Network
134 Semantic Types (STs)
54 types of relationships
among STs
Metathesaurus
800,000 concepts
~10 M inter-concept
relationships
Link = categorization
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UMLS compared to individual vocabularies
Broader scope
Extended coverage
Finer granularity
Unique identifier
Synonym terms clustered into concepts
Additional synonyms
Additional hierarchical relationships
Semantic categorization
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Limitations
Licensing mechanism
Too much information
Not enough information
Licensing mechanism
Free UMLS registration
4 levels of restriction
L0 (~55%) must acknowledge NLM, no redistribution
L1 (~6%) must negotiate for translation
L2 (~.1%) must negotiate for creating health data
L3 (~39%) must negotiate for any production use
Possible license fees for certain vocabularies
MetamorphoSys helps subset by source
Too much information
Huge
1.5 M unique English strings
775,000 concepts
Over 10 M interconcept relationships
Complex two-level structure
Metathesaurus
Semantic Network
Steep learning curve
Not enough information
Update
Frequency
Mechanism
Lack of coverage
Major sources
Major subdomains
Terminology vs. Ontology
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Conclusions  The up side
Terminology integration is a step towards interoperability
Clusters of synonyms from different sources
Paths between terms from different sources
Conclusions  The down side
However, interoperability requires more than loosely aligned terminologies
The UMLS does not claim to be an ontology
The UMLS is, however, a resource for acquiring biomedical ontologies
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