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 OntologyBuffalo, 30 July 2011

Biomedical Informatics

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From Practice-based Evidenceto Evidence-based Practice

PatientEncounters

ClinicalDatabases Registries et al.

ClinicalGuidelines

Medical Knowledge

ExpertSystems

Data Inference

KnowledgeManagement

Decisionsupport

OntologyShared Semantics

Vocabularies & Terminologies

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Blois, 1988Medicine 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…

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The Continuum Of Biomedical InformaticsBioinformatics meets Medical Informatics

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Biology Medicine

Chasm of Semantic Despair

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The Historical Center of theHealth Data Universe

Clinical Data

Billable Diagnoses

Billable Diagnoses

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Copernican Healthcare

Billable Diagnoses

Clinical Data(Niklas Koppernigk)

Clinical Guidelines

Scientific Literature

Medical Literature

Clinical Data

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World Health Organization; ICD-11 7

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World Health Organization; ICD-11 8

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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 GroupedNomenclature Classification Groups

GroupersAggregation

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Aggregation Logics by domainrule-based aggregations

Decision Support and Error Detection

Public Health andSurveillance

Reimbursement and Management

Outcome Research and EpidemiologyFindings InterventionsEvents

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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

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Traditional Hierarchical SystemICD-10 and family

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Addition of semantic arcs - Ontology

Relationships Logical Definitions Etiology Genomic Location

Laterality Histology Severity Acuity

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Linear views may serve multiple use-casesMorbidity, Mortality, Quality, …

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ICD11 Content Model

Descriptive characteristics1. 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 & Symptomsb. Diagnostic Findings

5. Causal Properties (etiology) a. Causal Mechanisms /Agentsb. Genomic characteristics

6. Temporal Properties7. Severity and/or Extent 8. Functional Impact9. Treatment

TITLE : Name of disease, disorder, or syndrome…1. Textual definition 2. Synonyms - Inclusion – Exclusion - Index terms

Maintenance attributesA. Unique identifierB. Subset, adaptation, and

special view flag1. Primary Care

2. Clinical Care 3. Research4. 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

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ICD11 and SNOMED16

Relationship with IHTSDOSNOMED 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

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Potential Future States

ICD-11SNOMED

Ghost SNOMED

Ghost ICD

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Alternate Future

ICD-11SNOMED

JointICD-IHTSDO

Effort