Biomedical Informatics Some Observations on Clinical Data Representation in EHRs Christopher G. Chute, MD DrPH, Mayo Clinic Chair, ICD11 Revision, World Health Organization Chair, ISO Tech. Comm. TC215 Health Informatics International Conference on Biomedical Ontology Buffalo, 30 July 2011

Biomedical Informatics © 2007 Mayo Clinic College of Medicine2 From Practice-based Evidence to Evidence-based Practice Patient Encounters Clinical Databases Registries et al. Clinical Guidelines Medical Knowledge Expert Systems Data Inference KnowledgeManagement Decisionsupport Ontology Shared Semantics Vocabularies & Terminologies

Biomedical Informatics © 2007 Mayo Clinic College of Medicine3 Blois, 1988 Medicine and the nature of vertical reasoning Molecular: receptors, enzymes, vitamins, drugs Genes, SNPs, gene regulation Physiologic pathways, regulatory changes Cellular metabolism, interaction, meiosis,… Tissue function, integrity Organ function, pathology Organism (Human), disease Sociology, environment, nutrition, mental health…

Biomedical Informatics © 2007 Mayo Clinic College of Medicine4 The Continuum Of Biomedical Informatics Bioinformatics meets Medical Informatics Chasm of Semantic Despair

Biomedical Informatics © 2007 Mayo Clinic College of Medicine5 The Historical Center of the Health Data Universe Clinical Data Billable Diagnoses

Biomedical Informatics © 2007 Mayo Clinic College of Medicine6 Copernican Healthcare Billable Diagnoses Clinical Data (Niklas Koppernigk) Clinical Guidelines Scientific Literature Medical Literature Clinical Data

Biomedical Informatics World Health Organization; ICD-117

Biomedical Informatics World Health Organization; ICD-118

Biomedical Informatics © 2007 Mayo Clinic College of Medicine9 Familiar Points Along Continuum Modern Health Vocabularies Nomenclature – Highly Detailed Descriptions (SNOMED) Classification – Organized Aggregation of Descriptions into a Rubric (ICDs) Groupings – High Level Categories of Rubrics (DRGs) Detailed Grouped NomenclatureClassificationGroups Groupers Aggregation

Biomedical Informatics © 2007 Mayo Clinic College of Medicine10 Aggregation Logics by domain rule-based aggregations Decision Support and Error Detection Public Health and Surveillance Reimbursement and Management Outcome Research and Epidemiology FindingsInterventionsEvents

Biomedical Informatics © 2007 Mayo Clinic College of Medicine11 ICD11 Use Cases Scientific consensus of clinical phenotype Public Health Surveillance Mortality Public Health Morbidity Clinical data aggregation Metrics of clinical activity Quality management Patient Safety Financial administration Case mix Resource allocation

Biomedical Informatics © 2007 Mayo Clinic College of Medicine12 Traditional Hierarchical System ICD-10 and family

Biomedical Informatics © 2007 Mayo Clinic College of Medicine13 Addition of semantic arcs - Ontology Relationships  Logical Definitions  Etiology  Genomic  Location  Laterality  Histology  Severity  Acuity

Biomedical Informatics © 2007 Mayo Clinic College of Medicine14 Linear views may serve multiple use-cases Morbidity, Mortality, Quality, …

Biomedical Informatics ICD11 Content Model Descriptive characteristics 1. Type Disease, disorder, syndrome, injury, sign/symptom, external cause, reason for encounter 2. Body System(s) (pathophysiology) 3. Body Part(s) (anatomical site) 4. Manifestation Attributes a. Signs & Symptoms b. Diagnostic Findings 5. Causal Properties (etiology) a. Causal Mechanisms /Agents b. Genomic characteristics 6. Temporal Properties 7. Severity and/or Extent 8. Functional Impact 9. Treatment TITLE : Name of disease, disorder, or syndrome… 1.Textual definition 2. Synonyms - Inclusion – Exclusion - Index terms Maintenance attributes A.Unique identifier B.Subset, adaptation, and special view flag 1. Primary Care 2. Clinical Care 3. Research 4. Special indices (e.g. Public Health Indices or Resource Groupings) C.Hierarchical relationships parents and children in ICD structure D.Mapping relationships Linkages to other systems like SNOMED etc. A.Other rules

Biomedical Informatics ICD11 and SNOMED 16 Relationship with IHTSDO SNOMED content IHT (SNOMED) will require high-level nodes that aggregate more granular data Use-cases include mutually exclusive, exhaustive,… Sounds a lot like ICD ICD-11 will require lower level terminology for value sets which populate content model Detailed terminological underpinning Sounds a lot like SNOMED Memorandum of Agreement – July 2010! WHO right to use for authoring and interpretation

Biomedical Informatics © 2007 Mayo Clinic College of Medicine17 Potential Future States ICD-11 SNOMED Ghost SNOMED Ghost ICD

Biomedical Informatics © 2007 Mayo Clinic College of Medicine18 Alternate Future ICD-11 SNOMED Joint ICD-IHTSDO Effort