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The Role of Terminologies and Ontologies in the Context of the Electronic Health Record   Dagstuhl May 23th, 2006 Werner Ceusters, MD Ontology Research Group Center of Excellence in Bioinformatics & Life Sciences SUNY at Buffalo, NY
Electronic Health Records ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A replacement for This  and  that
typical EHR screen ,[object Object]
Current US GOV eHealth goals & strategies ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Functions to be supported (HL7) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],HL7 EHR System Functional Model. Draft May 2006
Direct Care Functions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Care support functions ,[object Object],[object Object],[object Object],[object Object],[object Object]
Information Infrastructure Functions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
‘ Terminology’ ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Fundamental Activities  of Terminology Work ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],This is not the right approach to  ontology  !
Reason for our rejection:  T he t erminological View ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],? Terminology is a tool for dealing with language, not one for representing reality.
Peirce, Ogden & Richards , … Unit of Thinking (Concept) Designation  (Symbol, Sign, Term, Formula etc.) Referent (Concrete Object, Real Thing, Conceived Object) (Unit of Thought, Unit of Knowledge) ~ Universal ??? Universal Particular
Success of concept-based view in healthcare IT Concept ‘dog’ Chien Dog Hond Hund …
Why terminologies ? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Some systems and their purpose ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
‘ Traditional ’ semantic indexing ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Classification: ICD ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Coding versus classification ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Fractured nose = ??? Fracture of nose
Coding / classification confusion ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Classification: culture dependent ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Categories derived through analysis of the structure of the language used by these people.    Language is NOT a thrustworthy basis for (realist) ontology development.
Culture ???  Some ICD examples ,[object Object],[object Object],[object Object]
The “exploding bicycle”  (J. Rogers) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Border’s classification of Medicine ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Ambituous claims have been made … ,[object Object],[object Object]
Mesh: Medical Subject Headings
Mesh: Medical Subject Headings
MeSH: typing  myocardial infarction
H i e r a r c h i c a l
MeSH: Different context, different meaning ? ??? ??? ???
MeSH Tree Structures - 2004 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],The most abundant sort of mistakes if used as an ontology!
Intermediate conclusion (1) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Why not ? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Ok, then Description Logics and OWL will save us ... ? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
SNOMED and DL SNOMED-RT (2000) DL don’t guarantee you to get parthood right ! SNOMED-CT (2003)
NCI Thesaurus ,[object Object],[object Object]
NCI Thesaurus Root concepts Anatomic  Structure,  Anatomic  System, or  Anatomic  Substance  ? Or  ? Does the NCI not know to which category Any item classified there belongs ? Anatomic  Substance  ? If yes, why is  gene product  not subsumed by it ? If no, why are drugs   and   chemicals  not subsumed by it ?
Definition of “cancer gene”
Terminologies and ontologies for EHR use: the quest for principles
Requirements for clinical vocabularies (1) ,[object Object],[object Object],[object Object],[object Object],[object Object]
Requirements for clinical vocabularies ( 2 ) ,[object Object],[object Object],[object Object],[object Object]
The Desiderata Revisited ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
New desiderate for biomedical terminologies ,[object Object],[object Object],[object Object],[object Object],[object Object]
Desiderata for Controlled Medical Data ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Take off of  ontology  in biomedical informatics ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A practical example ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],However ! Is this a procedure or the documentation of a procedure ? Is this condition really a patient condition or just an idea ? How are these related ?
The dispute between … ,[object Object],[object Object],[object Object],[object Object],[object Object]
Ontology desiderata  (C. Goble)  for engineers Precision formal, unambiguous high fidelity Systematic control, quality, clarity Explicitness clarity, commitment,  reuse Flexibility expressivity, evolution
Ontology description space  (C. Goble) Coverage upper, domain general, domain specific Expressivity taxonomy, relationships, axioms Knowledge representation languages and models words, OO, frames, logics Inference mechanisms classification, coherency
But not to forget: change management ,[object Object],[object Object],[object Object],[object Object],[object Object]
Conclusions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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RoleOfTerminologies

  • 1. The Role of Terminologies and Ontologies in the Context of the Electronic Health Record Dagstuhl May 23th, 2006 Werner Ceusters, MD Ontology Research Group Center of Excellence in Bioinformatics & Life Sciences SUNY at Buffalo, NY
  • 2.
  • 3. A replacement for This and that
  • 4.
  • 5.
  • 6.
  • 7.
  • 8.
  • 9.
  • 10.
  • 11.
  • 12.
  • 13. Peirce, Ogden & Richards , … Unit of Thinking (Concept) Designation (Symbol, Sign, Term, Formula etc.) Referent (Concrete Object, Real Thing, Conceived Object) (Unit of Thought, Unit of Knowledge) ~ Universal ??? Universal Particular
  • 14. Success of concept-based view in healthcare IT Concept ‘dog’ Chien Dog Hond Hund …
  • 15.
  • 16.
  • 17.
  • 18.
  • 19.
  • 20. Fractured nose = ??? Fracture of nose
  • 21.
  • 22.
  • 23.
  • 24.
  • 25.
  • 26.
  • 29. MeSH: typing myocardial infarction
  • 30. H i e r a r c h i c a l
  • 31. MeSH: Different context, different meaning ? ??? ??? ???
  • 32.
  • 33.
  • 34.
  • 35.
  • 36. SNOMED and DL SNOMED-RT (2000) DL don’t guarantee you to get parthood right ! SNOMED-CT (2003)
  • 37.
  • 38. NCI Thesaurus Root concepts Anatomic Structure, Anatomic System, or Anatomic Substance ? Or ? Does the NCI not know to which category Any item classified there belongs ? Anatomic Substance ? If yes, why is gene product not subsumed by it ? If no, why are drugs and chemicals not subsumed by it ?
  • 40. Terminologies and ontologies for EHR use: the quest for principles
  • 41.
  • 42.
  • 43.
  • 44.
  • 45.
  • 46.
  • 47.
  • 48.
  • 49. Ontology desiderata (C. Goble) for engineers Precision formal, unambiguous high fidelity Systematic control, quality, clarity Explicitness clarity, commitment, reuse Flexibility expressivity, evolution
  • 50. Ontology description space (C. Goble) Coverage upper, domain general, domain specific Expressivity taxonomy, relationships, axioms Knowledge representation languages and models words, OO, frames, logics Inference mechanisms classification, coherency
  • 51.
  • 52.