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UMLS and the VDW
           Dustin Key
           Gene Hart

  Group Health Research Institute
       HMORN May 2012
UMLS
• “If Frodo were carrying an ontology, it would be
  UMLS.”   Meaningful Use and Beyond, A Guide for IT Staff in Health Care by Fred Trotter and David Uhlman




• Unified Medical Language System is maintained
  by the National Library of Medicine, and was
  developed in 1986.

• 100 Terminologies and 1 million concepts
  contained

• http://www.nlm.nih.gov/research/umls/
UMLS Points of Interest
                       The UMLS “is organized by concept. One of its
Source     Number of   primary purposes is to connect different names for
           Concepts    the same concept from many different
ICD09CM    20,997      vocabularies.”
ICD10CM    98,178
                       UMLS Concept Unique Identifier (cui)   UMLS Description
CPT        9,526
Meta CPT   1,036             C0155870                 “Influenza with pneumonia”
HCPCS      5,651
CDT        587
RxNorm     204,081
NCI        90,135
DSM-IV     452         ICD09CM: 487.0                         ICD10CM: J11.00
LOINC      140,633                SnowmedCT: 195921001
236
CCS        1106
                       This is a good source for building code lists with
Snowmed    324,494     associated and standardized descriptions.
CT
UMLS Points of Interest
UMLS preserves intra-source relationships and attributes. In many cases, the
ontology can be expressed in terms of a hierarchy. Here are three kinds of
relationships from RxNorm, mapping to the concept of „Simvastatin.‟ NDC code
is an example of an attribute that can be paired to a concept.


                      UMLS_CUI=C2242235

 UMLS_CUI=C2242231




                                                      UMLS_CUI=C0074554

                     Screenshot from NCBO Bioportal
Some Challenges Discovered
• “Obsolete” codes
  dropped.

• Learning curve.

• Local site codes not
  included.

• Licensing issues
  potentially difficult
  discussion.
                          Mount Ngauruhoe, New Zealand, aka, Mount
                          Doom from Lord of the Rings. Photo by Peter
                          Wright Hall.
UMLS Benefits To Date
                                   UMLS-enabled Procedure, Diagnosis,
  1   i2b2/SHRINE Left-hand Side   and Pharmacy Ontology. This same
                                   menu could be used for VDW
                                   queries.




Screenshot of
I2B2
UMLS Benefits To Date
 2   NDC Code Set Construction via RxNorm




RxNorm from UMLS pairs NDCs to Generic ingredients. This powers an NDC
search-macro which can build very comprehensive code sets, that can then be
shared or easily reconstructed within the HMORN.
UMLS Benefits To Date
 3 Concept Coding, and Note Retrieval

        Coding                                          Retrieval
 This is evidence of a                         %getnotes(cui=C0006826)
 neoplasm.
                                                                    %getnotes
                                                                    looks for
 NLP Concept Coding                                                 subclasses of
 Dictionary                                                         Neoplasm.

                                      Note 1              Note 2

  C0006826   This is the UMLS         ……..breast          …Eyelid Nevus
             code for „neoplasm‟                                            Etc.
                                      carcinoma

We used the UMLS NCI ontology as the dictionary to concept code a year‟s worth
of pathology notes. Then we created a note retrieval macro. The macro uses the
NCI ontology‟s hierarchy, also available in the UMLS, to pull any notes with the
specified concept code, or any subclasses of that code.
UMLS Benefits To Date
4 Diagnosis Code Set Development:
  Charlson Categories on the CRN Portal

                                          Select dx_code,
                                          description where path
                                          like „%Heart failure%‟

                                          Similar to NDC Code Set
                                          development.
Looking Ahead: Suggested
               Pursuits
• Try UMLS concept coding the entire VDW.
  – Positions us to apply any ontology as we want.
• Try creating a file that has dropped obsolete
  codes.
  – Also, come up with some make-shift scheme to
    incorporate these into important hierarchies. Maybe
    work local codes into this scheme too.
• Somehow make a standardized UMLS extract
  available to the HMORN. Start with the licensing
  areas we feel comfortable with (RxNorm,
  HCPCS, ICD09CM) and expand.

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UMLS as a Resource for Virtual Data Warehouse Infrastructure KEY

  • 1. UMLS and the VDW Dustin Key Gene Hart Group Health Research Institute HMORN May 2012
  • 2. UMLS • “If Frodo were carrying an ontology, it would be UMLS.” Meaningful Use and Beyond, A Guide for IT Staff in Health Care by Fred Trotter and David Uhlman • Unified Medical Language System is maintained by the National Library of Medicine, and was developed in 1986. • 100 Terminologies and 1 million concepts contained • http://www.nlm.nih.gov/research/umls/
  • 3. UMLS Points of Interest The UMLS “is organized by concept. One of its Source Number of primary purposes is to connect different names for Concepts the same concept from many different ICD09CM 20,997 vocabularies.” ICD10CM 98,178 UMLS Concept Unique Identifier (cui) UMLS Description CPT 9,526 Meta CPT 1,036 C0155870 “Influenza with pneumonia” HCPCS 5,651 CDT 587 RxNorm 204,081 NCI 90,135 DSM-IV 452 ICD09CM: 487.0 ICD10CM: J11.00 LOINC 140,633 SnowmedCT: 195921001 236 CCS 1106 This is a good source for building code lists with Snowmed 324,494 associated and standardized descriptions. CT
  • 4. UMLS Points of Interest UMLS preserves intra-source relationships and attributes. In many cases, the ontology can be expressed in terms of a hierarchy. Here are three kinds of relationships from RxNorm, mapping to the concept of „Simvastatin.‟ NDC code is an example of an attribute that can be paired to a concept. UMLS_CUI=C2242235 UMLS_CUI=C2242231 UMLS_CUI=C0074554 Screenshot from NCBO Bioportal
  • 5. Some Challenges Discovered • “Obsolete” codes dropped. • Learning curve. • Local site codes not included. • Licensing issues potentially difficult discussion. Mount Ngauruhoe, New Zealand, aka, Mount Doom from Lord of the Rings. Photo by Peter Wright Hall.
  • 6. UMLS Benefits To Date UMLS-enabled Procedure, Diagnosis, 1 i2b2/SHRINE Left-hand Side and Pharmacy Ontology. This same menu could be used for VDW queries. Screenshot of I2B2
  • 7. UMLS Benefits To Date 2 NDC Code Set Construction via RxNorm RxNorm from UMLS pairs NDCs to Generic ingredients. This powers an NDC search-macro which can build very comprehensive code sets, that can then be shared or easily reconstructed within the HMORN.
  • 8. UMLS Benefits To Date 3 Concept Coding, and Note Retrieval Coding Retrieval This is evidence of a %getnotes(cui=C0006826) neoplasm. %getnotes looks for NLP Concept Coding subclasses of Dictionary Neoplasm. Note 1 Note 2 C0006826 This is the UMLS ……..breast …Eyelid Nevus code for „neoplasm‟ Etc. carcinoma We used the UMLS NCI ontology as the dictionary to concept code a year‟s worth of pathology notes. Then we created a note retrieval macro. The macro uses the NCI ontology‟s hierarchy, also available in the UMLS, to pull any notes with the specified concept code, or any subclasses of that code.
  • 9. UMLS Benefits To Date 4 Diagnosis Code Set Development: Charlson Categories on the CRN Portal Select dx_code, description where path like „%Heart failure%‟ Similar to NDC Code Set development.
  • 10. Looking Ahead: Suggested Pursuits • Try UMLS concept coding the entire VDW. – Positions us to apply any ontology as we want. • Try creating a file that has dropped obsolete codes. – Also, come up with some make-shift scheme to incorporate these into important hierarchies. Maybe work local codes into this scheme too. • Somehow make a standardized UMLS extract available to the HMORN. Start with the licensing areas we feel comfortable with (RxNorm, HCPCS, ICD09CM) and expand.