ECO R European Centre for Ontological Research Using realist ontology to link patient records with terminologies Dr. W. Ceusters European Centre for Ontological Research University of Saarbrücken

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ECO R European Centre for Ontological Research Interoperability of electronic health records By end 2006, Member States, in collaboration with the European Commission, should identify and outline interoperability standards for health data messages and electronic health records, taking into account best practices and relevant standardisation efforts. Achieving a seamless exchange of health information across Europe requires common structures and ontologies of the information transferred between health information systems. e-Health - making healthcare better for European citizens: An action plan for a European e-Health Area COM (2004) 356 final, , p17

ECO R European Centre for Ontological Research “Ontology” An ontology defines the terms used to describe and represent an area of knowledge, and are used by people, databases, and applications that need to share domain information (a domain is a specific subject area, such as health or medicine). OWL Web Ontology Language; Use Cases and Requirements W3C Recommendation 10 February e-Health - making healthcare better for European citizens: An action plan for a European e-Health Area COM (2004) 356 final, , p17

ECO R European Centre for Ontological Research “Ontology” Ontologies need to specify descriptions for the following kinds of concepts: – Classes (general things) in the many domains of interest – The relationships that can exist among things – The properties (or attributes) those things may have OWL Web Ontology Language; Use Cases and Requirements W3C Recommendation 10 February

ECO R European Centre for Ontological Research Focus of this presentation Ontology DOES HAVE a role in maximizing the potential uses of the EHCR – by making the contents understandable both for humans and machines in the same way Allows us to identify mistakes in current systems gives us a methodology to do better But only on the condition that the RIGHT SORT of ontology is used

ECO R European Centre for Ontological Research Understanding content (1) “John Doe has a pyogenic granuloma of the left thumb” We see:     The machine sees:

ECO R European Centre for Ontological Research Understanding content (2) John Doe pyogenic granuloma of the left thumb The XML misunderstanding We see:    The machine sees:

ECO R European Centre for Ontological Research Understanding content (3) John Doe XML-tags give humans some context, but tell the machine nothing more than where to store the data Codes tell humans and machines where the “meaning” can be found

ECO R European Centre for Ontological Research The view of terminology In Information Science: – “An ontology is a description (like a formal specification of a program) of the concepts and relationships that can exist for an agent or a community of agents.” In Philosophy: – “Ontology is the science of what is, of the kinds and structures of objects, properties, events, processes and relations in every area of reality.” concept termreferent

ECO R European Centre for Ontological Research Summary of current deficiencies in traditional and formal terminologies based on the concept paradigm Terms often require “reading in context”: – ICD: stomach for tumor in stomach Agrammatical constructions : – Several systems: Hepatitis, acute Semantic drift as one moves between hierarchies: – UMLS: fever ISA clinical exam ISA measurement ISA data collection ISA information science labels for terms do not correspond with intended meaning: – SNOMED-CT: leg for lower limb or lower leg underspecification (leading to erroneous classification in DL-based systems) overspecification (leading to wrong assumptions with respect to instances)

ECO R European Centre for Ontological Research An underspecification example

ECO R European Centre for Ontological Research Current EHCR architectures and message standards are not any better ! 1. They refer to such terminologies for most of the content 2. Their structures are built using the same error-prone approach

ECO R European Centre for Ontological Research CEN’s starting position for ENV is ok CEN ENV “The real world of health and health care is made up of individual clinical situations (of which the participants are called “associate topics”), that are described by an EHCR author as clinical statements. Within an EHCR system each clinical statement will be expressed as an elementary healthcare record entry.”

ECO R European Centre for Ontological Research CEN’s view on EHCR and reality Reality EHCR-architectureTerminology Statements John Doe

ECO R European Centre for Ontological Research Architectural Component Attributes CEN ENV Architectural Component unique identifier Originating Healthcare agent Originating date and time Related healthcare agent Related date and time Component name structure Subject of care identifier Component Status information Distribution Rule Reference Language n Refer to situations and statements and rely on terminology

ECO R European Centre for Ontological Research KMEHR-message

ECO R European Centre for Ontological Research KMEHR: element dayperiod/cd afterbreakfast afterdinner evening afterlunch afterlunch morning afternoon beforebreakfast night beforedinner beforelunch betweenbreakfastandlunch betweendinnerandsleep betweenlunchanddinner betweenmeals thehourofsleep

ECO R European Centre for Ontological Research KMEHR: element duration unit enumeration: %vv %wv %ww 1000/mm3 mg/dl amp bag bol bot box c can cap cc cm cmm cnt ctr daily day dis drm fl fld...

ECO R European Centre for Ontological Research Patient sex male female Unknown ???

ECO R European Centre for Ontological Research From Speech Acts to Information Model HL7-RIM Entity Language Communication Function Role Participation Act Context Structure Role Link ActLink Living subject person nonPersonLS Place Organisation Material ManufacteredM Device Container Employee Patient LicensedEntity Access Managed Participation PatientEncounter ControlAct Supply Diet WorkingList Procedure Observation PublicHealthcare DiagnosticImage DeviceTask SubstanceAdministration FinancialContract Account FinancialTransaction InvoiceElement

ECO R European Centre for Ontological Research Account ActRelationship ControlAct DeviceTask DiagnosticImage FinancialContract FinancialTransaction InvoiceElement ManagedParticipation Observation Participation PatientEncounter Procedure PublicHealthCase SubstanceAdministration Supply WorkingList Diet Act A collection of classes including the Act class and its specializations. These relate to the actions and events that constitute health care services. HL7: Acts contains :

ECO R European Centre for Ontological Research HL7: Acts contains : Account ActRelationship ControlAct DeviceTask DiagnosticImage FinancialContract FinancialTransaction InvoiceElement ManagedParticipation Observation Participation PatientEncounter Procedure PublicHealthCase SubstanceAdministration Supply WorkingList Diet Act A collection of classes including the Act class and its specializations. These relate to the actions and events that constitute health care services.

ECO R European Centre for Ontological Research Messy hierarchy Act: A record of something that is being done, has been done, can be done, or is intended or requested to be done Financial contract: A contract whose value is measured in monetary terms. Examples: Insurance; Purchase agreement Acts: A collection of classes including the Act class and its specializations. These relate to the actions and events that constitute health care services.

ECO R European Centre for Ontological Research a representation of REALITY that is understandable for a computer and reflects the properties of the objects within its domain in such a way that there obtain substantial and systematic correlations between reality and the ontology itself. My use of the word ontology, or: what we really need

ECO R European Centre for Ontological Research A look in the operating theatre Haydom Lutheran Hospital, Tanzania This surgeon This amputatio n stump A lot of objects present This mask This hand with some relations Part of

ECO R European Centre for Ontological Research A look in the operating theatre Haydom Lutheran Hospital, Tanzania This wound being closed by holding... That wound fluid drained A lot of processes going on This kocher being held in that hand of that surgeon with some relations Part of

ECO R European Centre for Ontological Research “Axiom” If the picture is not a fake, we (i.e., me and this audience) KNOW that that hand, that surgeon,... EXISTED, i.e. WERE REAL. But importantly: that hand, surgeon, kocher, mask,... EXISTED independently of our knowledge about them and also the part- relationship between that hand and that surgeon, and the processes going on, were equally real. epistemology ontology

ECO R European Centre for Ontological Research The blurr of possible worlds Reality EHCR-architectureTerminology Statements John Doe Observation (interpretation)

ECO R European Centre for Ontological Research “Axiom” Concept-based terminology (and standardisation thereof) is there as a mechanism to improve understanding of messages by humans. It is NOT the right device – to explain why reality is what it is, how it is organised, etc., (although it is needed to allow communication), – to reason about reality, – to make machines understand what is real, – to integrate across different views, languages, conceptualisations,...

ECO R European Centre for Ontological Research Why not ? Does not take care of universals and particulars appropriately Concepts not necessarily correspond to something that (will) exist(ed) – Sorcerer, unicorn, leprechaun,... Definitions set the conditions under which terms may be used, and may not be abused as conditions an entity must satisfy to be what it is Language can make strings of words look as if it were terms – “Middle lobe of left lung”...

ECO R European Centre for Ontological Research Ontology versus Description Logics In the Description Logic world – terms and definitions come first, – the job is to validate them and reason with them by means of a model – but whether the model correspond to reality is not its problem ( Workshop on DL, Saarbrücken, 22-23/11/2004 ) In the realist ontology world – robust ontology (with all its reasoning power) comes first – terms, term-hierarchies and record architectures must be subjected to the constraints of ontological coherence

ECO R European Centre for Ontological Research (Simplified) Logic of classes primitive: – entities: particulars versus universals – relation inst such that: all classes are universals; all instances are particulars some particulars are not instances; e.g. some mereological sums subsumption defined resorting to instances:

ECO R European Centre for Ontological Research What is our message ? From “Good Characteristics of a EHCR” (Eurorec 1997, Paris) to “Good characteristics of an Ontology” – Crucial: how does an “ontology” relate to reality Pragmatism is no excuse for sloppiness Philosophical is no synonym for useless Subject EHCR standards that deal with semantics to a sound ontological analysis EHCR is an ideal domain, because it deals with real patients in real situations. When building “models”, they should be related to reality in the right way