1. Integrating disease and diagnosis semantics in clinical archetypes Leonardo Lezcano Miguel-Ángel Sicilia {leonardo.lezcano, msicilia}@uah.es University of Alcalá

2. Contents  Clinical archetypes  Initiation, Realization, Recognition and Representation of Disease in clinical archetypes  Integration approaches  Translating to OWL  Applications (reusing rules)  Conclusions

3. Archetypes are formal clinical specifications, expressed in terms of constraints on a reference model. clinical archetypes (OpenEHR) Reference Model They are combined together through templates, and used at runtime to extract data, to enable querying, and to support legacy data transformation. coded texts, quantities, measures, date/times, booleans,

4. The Heart Rate archetype (ADL) archetype (adl_version=1.4) - concept [at0000] -- Heart rate … definition OBSERVATION[at0000] matches {-- Heart rate data matches { … ELEMENT[at0004] occurrences matches {0..1} matches {-- Rate value matches {C_DV_QUANTITY … ELEMENT[at0005] occurrences matches {0..1} matches {-- Rhythm value matches { DV_CODED_TEXT matches {at0006 – Regular; at0007 – Irregular; at0008 - Irregularly irregular} … state matches { … ELEMENT[at0013] occurrences matches {0..1} matches {-- Position value matches { DV_CODED_TEXT matches { at1000 – Lying; at1001 – Sitting; at1002 – Reclining; … etc} … protocol matches { … ELEMENT[at0011] occurrences matches {0..1} matches {-- Device DV_TEXT matches {*} ontology terminologies_available = items = < ["at0000"] = text =

5. Classification of types of Clinical Information (Beale & Heard) OBSERVATION: the entire stream of information captured by the investigator, used to characterize the patient system. Created by an act of observation, measurement, questioning, or testing of the patient: pathology results, blood pressure readings, patient answers during a physical examination ACTION: a record of intervention actions that have occurred, due to the execution of an Instruction by some agent: Medication action Transfusion EVALUATION: inferences of the investigator using the personal and published knowledge base about what the observations mean, and what to do about them. Instruction: opinion-based instructions sufficiently detailed so as to be directly executable by investigator agents (people or machines), in order to effect a desired intervention (including obtaining a sample for further investigation, as in a biopsy); about the pastabout the presentabout the future RM AM

6. Information & reality Information model (OpenEHR) models of reality domain content models (variable) Archetypes Information models (stable) Reference Model & Service Model classificationsprocess description ICDx, ICPC, LOINC guidelines descriptive terminologies SNOMED-CT OGMS ontology

7. Information about Continuant & Occurrent entities  Protocol: Description of the method for arriving to the information in this entry. For OBSERVATIONs, this is a description of the method or instrument used. For EVALUATIONs, how the evaluation was arrived at. For INSTRUCTIONs, how to execute the Instruction.  Guideline_id: External identifier of the guideline creating this action, if relevant.  Data: The actual datum being recorded; expressed through data structures such as a List, Table, Single (value), Tree, etc.  Observation state: Any particular information about the state of the subject of the Entry necessary to correctly interpret the data, (e.g. the patient being female, pregnant, or currently undergoing chemotherapy). As pieces of information, archetypes instances are all Continuant entities. However, they contain information about clinical statements that represent both Continuant and Occurrent entities.

8. Information about Continuant & Occurrent entities Info about Occurrents Conti- nuants

9. Initiation, Realization, Recognition and Representation of Disease I The clinical investigator model (OpenEHR) Physical Examinations, Signs, Symptoms, Clinical History, Lab Tests & Findings. Clinical Picture, Diagnosis Plan development Treatment & Therapeutic response

10. Initiation, Realization, Recognition and Representation of Disease II (Scheuermann & Smith) CLUS.symptom CLUS.health_event CLUS.issue CLUS.symptom CLUS.health_event CLUS.issue OBS.exam CLUS.inspection OBS.exam CLUS.inspection EVAL.diagnosis EVAL.problem EVAL.diagnosis EVAL.problem ACT.follow_up OBS.lab_test CLUS.specimen OBS.lab_test CLUS.specimen OBS.story INS.follow_up