Ontology Working Group
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Ontology Working Group OWL

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In i2b2's domain of Clinical Research Informatics, an ontology is a collection of healthcare-related "concepts," that define a set of terms representing the various categories of clinical and translational science. Categories such as demographics, diagnoses, procedures, laboratory tests, and medications are described as using hierarchical lists of "concepts" in an i2b2 ontology.

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  • diabetes mellitus is an endocrine disorder, which is a type of diagnosis; it will be found in both the "Diagnoses" tree and in the "Diagnoses (ICD10)" tree;
  • aspirin is a non-steroidal anti-inflammatory drug, which is an analgesic, which is a type of medication; it will be found in the "Medications" tree;
  • tonsillectomy is a type of surgery, which is a procedure; it will be found in the "Procedures" tree;
  • hemoglobin A1c is a blood test, which is a type of laboratory test; it will be found in the "Laboratory Tests" tree; and
  • race is a patient-demographic descriptor; it will be found in the "Demographics" tree.

Here is another screenshot, where you can see the hierarchy expansion for "Race" in the "Demographics" tree:

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First, a little more terminology. The i2b2 "patient data" are stored in the Clinical Research Chart database, or "CRC database." The ontology of concepts that describe those patient data is are known as the "metadata." The metadata or ontology is stored in the Metadata database, or "ONT database."

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For instance, if the patient's electronic health record indicates that the patient had the procedure "tonsillectomy with adenoidectomy," then that fact needs to be recorded in the CRC database  using using the standard code for that particular procedure. In the case of using the default i2b2 Procedures metadata tree, that code would be "ICD9:28.3". A query in the user interface for "tonsillectomy with adenoidectomy" will be translated by i2b2 into a query in the database for patients who have the code ICD9:28.3 in their CRC data records.

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The commonly used standards representing basic structured clinical patient data include:

SourceStandardRelevant i2b2 Domains or Categories
Health Level 7 InternationalHL7 AdministrativeDemographics
American Medical Association (AMA)Current Procedural Terminology (CPT; Level 1 of HCPCS)Procedures
American Medical Association (AMA)Healthcare Common Procedure Coding System (HCPCS)Procedures
US National Center for Health Statistics (NCHS)International Classification of Diseases (ICD)Diagnoses (ICD9-CM, ICD10-CM), Procedures (ICD9-PROC, ICD10-PCS)RxNorm (part of UMLS)MedicationsInternational Health Terminology Standards Development Organisation (IHTSDO), aka SNOMED InternationalSystematized Nomenclature of Medicine, Clinical Terms (SNOMED CT)Demographics, Diagnoses, Procedures, Measurements,
Health Level 7 InternationalHL7 AdministrativeDemographics
International Health Terminology Standards Development Organisation (IHTSDO), aka SNOMED InternationalSystematized Nomenclature of Medicine, Clinical Terms (SNOMED CT)Demographics, Diagnoses, Procedures, Measurements, Medications
Regenstrief InstituteLogical Observation Identifiers Names and Codes (LOINC)Measurements (Laboratory Tests, Vital Signs)
US Food and Drug Administration (FDA)National Drug Code (NDC)Medications
US National
Library of Medicine
Center for Health Statistics (NCHS)International Classification of Diseases (ICD)Diagnoses (ICD9-CM, ICD10-CM), Procedures (ICD9-PROC, ICD10-PCS)
US National Library of MedicineRxNorm (part of UMLS)
Medications
US National Library of MedicineUnified Medical Language System (UMLS)Demographics, Diagnoses, Procedures, Measurements, Medications
US Veterans Administration
Medications (
VA Classes
)
Medications


Do all i2b2 instances always have the same ontology?

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i2b2 Common Data Model (star-schema; ACT CRC demo database has matching concepts
NameDescription

Included Domains

(I don't think all domains can be listed, or it will be hard to understand. I think this merges with description and tries to convey the level of detail and comprehensiveness).

Target Data Model
i2b2 demo ontologydefault metadata from i2b2 authorsfixmei2b2 Common Data Model (star-schema); default CRC database has matching concepts
ACT ontologyENACT projectfixme

)

ACT-on-OMOP ontologyENACT projectfixmei2b2 Common Data Model (star-schema), but modified with views into the OMOP Common Data Model; CRC database loaded with SYNPUF demo data has matching concepts

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.

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The i2b2 database loading modules come with at least 3 sets of "metadata" or ontology trees. These are the demo ontology, the ACT ontology, and the ACT-on-OMOP ontology.

How about a thumbnail description of these ontologies? How do they differ from each other?

Sure. Here is a table describing the major differences among them.

Description
Name

Included DomainsTarget Data Model
i2b2 demo ontologydefault metadata from i2b2 authorsfixmei2b2 Common Data Model (star-schema); default CRC database has matching concepts
ACT ontologyENACT projectfixmei2b2 Common Data Model (star-schema); ACT CRC demo database has matching concepts
ACT-on-OMOP ontologyENACT projectfixmei2b2 Common Data Model (star-schema), but modified with views into the OMOP Common Data Model; CRC database loaded with SYNPUF demo data has matching concepts

How should I choose which ontology to use?

The ontology you choose to use depends on your local goals and local data. As long as your primary purpose is to understand and show how the i2b2 webclient works, the i2b2 demo ontology is sufficient. If your goal is to set up i2b2 for research use, one of the ACT ontologies will be more useful. In general, to set up an i2b2 instance to support research, start with the ACT Ontology. This Ontology includes a wide range of terminologies that should cover most code-sets you'll find in your EMR data. OMOP refers to a data architecture, so if you are using this format locally, then ACT on OMOP will be the most relevant.

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You just mentioned Domains. What do you mean by that?

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Ontology Working Group OWL