Unified Medical Language System Semantic ... - Semantic Scholar

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Demos November 14, 2006

Unified Medical Language System Semantic Navigator Olivier Bodenreider Lister Hill National Center for Biomedical Communications Bethesda, Maryland - USA

Issues ‹ Size z

Large number of concepts (>1 million)

‹ Complexity z z z

Polyhierarchical structures Multiple information sources Multiple properties

‹ Lack of formality z z

Redundant relations Hierarchies vs. hierarchical relations Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Challenges ‹ Restrict information space to selected information

sources ‹ Reduce complexity z z z

Group concepts by semantic groups Transitive reduction on hierarchical relations Select co-occurring concepts

‹ Reduce the cognitive burden on the user z

Use graph-based rather than tree-based representations

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UMLS Semantic Navigator SemNav http://umlsks.nlm.nih.gov* ► SN Resources ► Semantic Navigator (* free UMLS registration required)

Unified Medical Language System® ‹ Developed at NLM since 1990 ‹ 139 source vocabularies z

17 languages

‹ Broad coverage of biomedicine z z z

5.1M names 1.3M concepts 16M relations

‹ Integration z z

Synonymous terms are clustered in a concept Hierarchies (trees) are combined in a graph structure Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Terminology integration Terms Duchenne muscular dystrophy

MeSH, SNOMED CTV3, Jablonski, CRISP, DxPlain, MedDRA, LOINC

Duchenne’s muscular dystrophy

COSTAR

Duchenne de Boulogne muscular dystrophy

Jablonski

Duchenne type progressive muscular dystrophy

SNOMED

pseudohypertrophic muscular dystrophy

MeSH, CTV3 SNOMED

X-liked recessive muscular dystrophy

Jablonski

severe generalized familial muscular dystrophy

SNOMED

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Terminology integration Relationships ‹

‹ ‹

Inter-concept relationships: hierarchies from the source vocabularies Redundancy: multiple paths One graph instead of multiple trees (multiple inheritance)

A

C

B D E H

E

B

F H

D E G H

A B D

C E

G

F H

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UMLS A two-level structure ‹ Two-level structure z

Semantic Network „ „

z

Metathesaurus „ „

z

135 Semantic Types (STs) 54 types of relationships among STs >1M concepts ~12 M inter-concept relationships

Link = categorization

Semantic Network Semantic Type

categorization

Concept Metathesaurus

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Semantic Types

Anatomical Structure Fully Formed Anatomical Structure

Embryonic Structure

Body Part, Organ or Organ Component

Disease or Syndrome Pharmacologic Substance

Population Group

Semantic Network

Metathesaurus Mediastinum 4

Saccular Viscus

Angina 97 Pectoris

Esophagus 12

Heart Left Phrenic Nerve

Concepts

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Heart Valves

Fetal 31 Heart

Cardiotonic 225 Agents Tissue 22 Donors

[…]

[…]

MeSH Browser

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Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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SemNav Visualization options

Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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Lister Lister Hill Hill National National Center Center for for Biomedical Biomedical Communications Communications

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SemNav Relationships Semantic Types

Biologically Active Substance

Disease or Syndrome

Amino Acid, Peptide or Protein

Muscular Dystrophy, Duchenne Dystrophin

190

Concepts

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Technical details ‹ Simple web/cgi technology (apache, Perl) ‹ dot (GraphViz) z z

PNG file (-Tpng) Client-side map (-Tcmap)

‹ Precompute the transitive closure on hierarchical

relations to perform the transitive closure fast ‹ Remove cycles (UMLS)

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Medical Ontology Research Contact: [email protected] Web: mor.nlm.nih.gov Olivier Bodenreider Lister Hill National Center for Biomedical Communications Bethesda, Maryland - USA