# Presentation: 830541

## Unified Medical Language System® (UMLS®) 

- NLM Presentation Theater
- MLA 2007
- National Library of Medicine
- National Institutes of Health
- U.S. Dept. of Health and Human Services

## The UMLS consists of

**Metathesaurus**

**      ****Semantic**
**       ****Network                              **

-   **SPECIALIST **
**Lexicon +Tools**

- 135 broad **categories** and
- 54 **relationships** between them

- 1 million+
- biomedical **concepts** from over 100 sources

- lexical information and programs for **language processing**

**3 Knowledge Sources**
- used separately or together

## UMLS Objectives

- Began in 1986 as long-term R&D project
- Designed for systems developers
- Develop multi-purpose tools to enhance understanding of medical meaning across systems
- Overcome barriers to effective retrieval of machine-readable information
- Overcome variety of ways the same concepts are expressed in machine readable and human language

- Dr. Donald A. Lindberg
- Director
-                     National Library of Medicine

## UMLS Uses

- Information retrieval
- Thesaurus construction
- Natural language processing
- Automated indexing
- Electronic health records (EHR)
- Distribution mechanism for
- HIPAA, CHI, PHIN regulatory standards
- SNOMED CT

## UMLS Releases

- 3-4 updates (releases) per year
- 3 Knowledge Sources in 3 sets of relational files
- Tools:
- MetamorphoSys – install and customize
- RRF Subset Browser
- Lexical tools including LVG
- Download from UMLSKS or on DVD

## UMLS Access	

- UMLS Knowledge Source Server (UMLSKS)
**http://umlsks.nlm.nih.gov/**
- Browse 3 Knowledge Sources
- Query with Java or XML-based APIs
- Download files and programs
- Access documentation and other resources
- Local installation
- Use **MetamorphoSys** to install Knowledge Sources, customize Metathesaurus
- View customized subset with browser
- Use load scripts to load into database

## UMLS License Agreements

- Terms and conditions of use online
- Semantic Network
- SPECIALIST Lexicon & Lexical Tools
- Metathesaurus
- Sign formal license agreement
**Additional restrictions apply to use of some sources **as noted in the Appendix to the License Agreement

## Metathesaurus

- 100+ general and specialized biomedical vocabularies
- 17 languages (63% English)
- 1 million+ concepts;  6 million+ names
- 100K+ relationships (hierarchical, semantic, statistical and mapping relationships)
- Distributed in a common electronic format

## Metathesaurus Source Vocabularies

- Vary in purpose, structure and properties
- Used in clinical, research, administrative, public health reporting
- All are sets of valid values
- Thesauri, e.g., MeSH, CRISP, NCI
- Statistical classifications, e.g., ICD-9-CM
- Billing codes, e.g., CPT, ABC Codes
- Clinical coding systems, e.g., SNOMED CT

## SNOMED CT

- Comprehensive clinical terminology
- Created by College of American Pathologists
- Ownership transferred to International Health Terminology Standards Development Organisation (IHTSDO) in April 2007
- 9 charter member countries includes U.S.
- NLM represents U.S.
- NLM distributes SNOMED CT to U.S. users in both native and UMLS formats

## Metathesaurus Concepts

- Synonymous terms clustered into a concept
- Unique identifier (CUI) is assigned
- Source information preserved

- Addison’s disease

- Addison’s disease                	  **SNOMED CT**       PT	363732003
- Addison’s Disease                	  **MedlinePlus **     	PT   	T1233
- Addison Disease                  	  **MeSH**		PT	D000224
- Primary Adrenal Insufficiency   **MeSH****	**	EN	D000224
- Primary hypoadreanlism    	  **MedDRA****	**	LT	10036696
-     syndrome, Addison
**...****	****...****	**

- C0001403

## Humphreys, BL and PL Schuyler, The Unified Medical Language System: Moving beyond the vocabulary of bibliographic retrieval.   In Broering NC, ed.  High- Performance Medical Libraries: advanced information management for the virtual era.  Westport (CT): Meckler; 1993,  p. 33.

- assumes continuing diversity in the formats and vocabularies of different information sources and in the language employed by different elements of the biomedical community. It is not an attempt to build a single standard biomedical vocabulary."

- Betsy L. Humphreys, Deputy Director, National Library of Medicine

**“**The UMLS approach ...

## Semantic Network

- 135 Semantic Types
- Broad subject categories in 2 hierarchies
- Assigned to all Metathesaurus concepts
- 54 Semantic Relationships
- Useful, important links between Types
- Hierarchical “isa” and associative relations
- Categorize the Metathesaurus
- Enhance meaning of concepts

## “Biologic Function” hierarchy (isa)

- Biologic Function
- 360

## Semantic Relations: between types

- _[Disease or Syndrome](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Disease+or+Syndrome&dbyear=2004AA&expandtree=true&inptype=text)_ _[associated_with](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=SREL&semtype1=associated_with&dbyear=2004AA&expandtree=true&inptype=text)_ _[Finding](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Finding&dbyear=2004AA&expandtree=true&inptype=text)_
- _[Disease or Syndrome](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Disease+or+Syndrome&dbyear=2004AA&expandtree=true&inptype=text)_ _[result_of](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=SREL&semtype1=result_of&dbyear=2004AA&expandtree=true&inptype=text)_ _[Pathologic Function](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Pathologic+Function&dbyear=2004AA&expandtree=true&inptype=text)_
- _[Body Part, Organ, or Organ Component](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Body+Part%2C+Organ%2C+or+Organ+Component&dbyear=2004AA&expandtree=true&inptype=text)_ location_of _[Disease or Syndrome](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Disease+or+Syndrome&dbyear=2004AA&expandtree=true&inptype=text)_
- _[Hormone](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Hormone&dbyear=2004AA&expandtree=true&inptype=text)_ _[affects](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=SREL&semtype1=affects&dbyear=2004AA&expandtree=true&inptype=text)_ _[Disease or Syndrome](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Disease+or+Syndrome&dbyear=2004AA&expandtree=true&inptype=text)_ _[Hormone](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Hormone&dbyear=2004AA&expandtree=true&inptype=text)_ _[causes](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=SREL&semtype1=causes&dbyear=2004AA&expandtree=true&inptype=text)_ _[Disease or Syndrome](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Disease+or+Syndrome&dbyear=2004AA&expandtree=true&inptype=text)_ _[Hormone](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=STYPE&semtype1=Hormone&dbyear=2004AA&expandtree=true&inptype=text)_ _[complicates](http://umlsks.nlm.nih.gov/kss/servlet/Turbine/action/DoSemNetServletSearch/template/semanticNW%2CSNScreen.vm;jsessionid=65834A541FD61D422981DB1B95C65778.kss3?querytype=SREL&semtype1=complicates&dbyear=2004AA&expandtree=true&inptype=text)_ Disease or Syndrome

## SPECIALIST Lexicon and Lexical Tools

- English lexicon of 300K+ common words and biomedical terms
- Lexical records encode information on:
- Syntax
- Morphology
- Orthography
- Used with associated lexical tools
- in Metathesaurus production
- in natural language processing applications

## SPECIALIST Lexicon Lexical Entry

- {base=disease entry=E0023270    cat=noun    variants=reg    variants=uncount    compl=pphr(of,np|bone|)    compl=pphr(of,np|breast|)    compl=pphr(of,np|liver|)    compl=pphr(of,np|ovary|)}

**Base form**
**Unique identifier**
**Part of speech**
**Lexical variants**
**Prepositional phrase complements**

## Lexical Tools

- Manage lexical variation in biomedical terminologies and text
- Used separately or with SPECIALIST Lexicon
- Perform transformations selected and ordered by users
- 3 primary programs: normalizer, word index generator, lexical variant generator
- 		http://umlslex.nlm.nih.gov/lvg/current/

## Normalization 1

- Hodgkin’s diseases, NOS

## Normalization 2

**Hodgkin Disease**
**HODGKINS DISEASE**
**Hodgkin's Disease**
**Disease, Hodgkin's**
**Hodgkin's, disease**
**HODGKIN'S DISEASE**
**Hodgkin's disease**
**Hodgkins Disease**
**Hodgkin's disease NOS**
**Hodgkin's disease, NOS**
**Disease, Hodgkins**
**Diseases, Hodgkins**
**Hodgkins Diseases**
**Hodgkins disease**
**hodgkin's disease**
**Disease, Hodgkin**

**normalize**

**disease hodgkin**

## UMLS Knowledge Source Server (UMLSKS) Home Page

- From top links or buttons
- Search 3 Knowledge Sources
- From sidebar
- Downloads
- Documentation
- Resources

## UMLS Documentation and Support

**UMLS  Home Page ****	****	****	**
**http://umlsinfo.nlm.nih.gov/**
**UMLSKS ****	**
**http://umlsks.nlm.nih.gov**
**NLP and Lexical Tools**
**http://lexsrv3.nlm.nih.gov/SPECIALIST/index.html**
**NLM customer service**
**Email: ****	****	**_[custserv@nlm.nih.gov](mailto:custserv@nlm.nih.gov)_

## Summary

- 3 Knowledge Sources
- Metathesaurus
- Semantic Network
- Lexicon + Lexical Tools
- MetamorphoSys             install, customize, browse
- UMLSKS
- 	browse, query, download
- License Agreement

## Thank you

***Thank you***