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OMOP Standardized Vocabularies. Part 1

Polina Talapova, MD, PhD

OMOP CDM Consultant

Tufts Clinical and Translational Science Institute (CTSI)

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Health Informatics Elective

Discovering Digital Health Standards

4 August 2023

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Content

  • Overview
  • Building the Standardized Vocabularies
  • Access to the Standardized Vocabularies
  • Source of Vocabularies: Adopt Versus Build
  • Vocabulary Building-Blocks
  • Vocabulary Lifecycle

In the next presentation:

  • Relationships
  • Hierarchy
  • Comparing Domain-Centric and Use-Case-Centric Logic in Mappings
  • Homework :)

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Overview: Digital Health Data Standards

  • Data Format Standards: HL7 (FHIR, CDA, CCDA), DICOM, OMOP CDM
  • Terminology Standards: OMOP Vocabulary, SNOMED CT, LOINC, ICDs
  • Data Exchange Standards: HL7 FHIR, DICOM, IHE, SOAP, REST

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Overview: OMOP

  • The Observational Medical Outcomes Partnership (OMOP) is a multi-stakeholder consortium initiated to develop and promote a common data model for observational studies.
  • OMOP CDM is a widely adopted standardized data model which transforms data from disparate healthcare systems into a common format (data structure and standard vocabularies).
  • The OMOP CDM is maintained by the Observational Health Data Sciences and Informatics (OHDSI) network.
  • OMOP Standardized Vocabularies (OMOP Vocabulary) is a set of standardized vocabularies to capture health-related concepts.

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Overview: OMOP

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Overview: OMOP Standardized Vocabularies

  • Open unified repository of terminologies, ontologies and coding systems used in digital health
  • Foundational part of OHDSI research network and OMOP CDM
  • Enables standardization of each element of a study
  • Addresses challenges in interpreting diverse clinical event descriptions
  • Shares principles, components, rules, and conventions
  • Needs community support for continuous improvement

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Overview: OMOP Standardized Vocabularies

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They are the interconnected tables within a relational database

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Building the Standardized Vocabularies

  • All vocabularies consolidated into a common format

Vocabulary Development Process

GitHub Vocabulary-v5.0

  • Key vocabularies are maintained by OHDSI Vocabulary Team

  • Community contribution encouraged for reporting mistakes and improvement

  • Feedback channels:

OHDSI Forums

OHDSI GitHub Issue page

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Access to the Standardized Vocabularies

  • Go to ATHENA https://athena.ohdsi.org/search-terms/start
  • ATHENA offers search for easy navigation through the Vocabularies
  • Define what you need and download the latest version of the vocabularies as a zip file and load it into your local database
  • Proprietary vocabularies require a license for access
  • The OHDSI Vocabulary Team can assist in obtaining the necessary license

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Download Vocabularies with Python

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Sequence

Step in Code

Library

Element

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Establishing a connection with a PostgreSQL database.

sqlalchemy

create_engine

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Creating a base class for declarative class definitions and setting up a metadata object with a specified schema

sqlalchemy

MetaData, declarative_base

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Opening and reading SQL files (DDL, constraints), generating a list of CSV files in a directory

pathlib

Path

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Reading a table from a database, reading CSV files.

pandas

read_sql_table, read_csv

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Defining a generic TypeVar and Iterable for handling a sequence of DataFrames

typing

TypeVar, Iterable

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Setting CSV reading options

csv

QUOTE_NONE

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Inserting data into tables

pandas

to_sql

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Accessing command-line arguments to get the directory of CSV files.

sys

argv

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Source of Vocabularies: Adopt Versus Build

  • OHDSI prefers adopting existing vocabularies over de-novo construction. Reasons:
    • Utilization in observational data within the community
    • Complexity and long-term input required for vocabulary construction and maintenance
  • If needed, the community produces and maintain supplemental vocabularies:
    • Type Concepts for administrative purpose
    • RxNorm Extension - to cover drugs used on market outside the United States in study)
    • OMOP Extension - to broaden the list of standard concepts across various domains

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Vocabulary Building-Blocks (1)

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Name

Definition

Concepts

Elements that define medical entities or observations

Concept IDs

Unique identifiers assigned to Concepts across the OMOP CDM

Concept Names

User-friendly names associated with Concepts

Domains

Categorization of Concepts in specific areas (Drug, Condition,

Measurement, Procedure, Device, etc.)

Vocabularies

Collections of Concepts categorized by a source

Concept Classes

Grouping of Concepts based on shared attributes and/or domain sub-categories (ATC 5th, Clinical Finding, Observable Entity, Lab Test)

Standardness

Identifies whether a concept is of non-standard, standard or classification type

Concept codes

Unique identifiers representing Concepts within a source data or terminology

Validity

Shows whether a concept or its relationship is active or deprecated or updated

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Vocabulary Building-Blocks (2)

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Vocabulary Building-Blocks (3)

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Category

Thoughts

Concepts

Everything can be a concept

Concept IDs

There is no concept ID duplicates in OMOP Standardized Vocabularies

Concept Names

Names of concepts can be not so friendly as stated, sometime they have hidden senses which can be revealed only when looking at the synonyms list

Domains

Some concepts have controversial domains

Vocabularies

Vocabularies contain standard and non-standard concepts in different extent

Concept Classes

Some concepts have controversial classes

Standardness

In ideal world, each non-standard concept has its standard equivalent

Concept codes

Concept codes can intersect with each other if not considering vocabulary

Validity

Some deprecated concepts or their relationships may not have replacement mapping

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Concepts

  • All clinical events in OMOP CDM are expressed as concepts, representing the semantic notion of each event.
  • Concepts serve as fundamental building blocks for data records, leading to highly normalized tables
  • CONCEPT table stores these concepts.
  • OMOP CDM encompasses concepts relevant to the patient's healthcare experience (conditions, procedures, drug exposures, etc.).
  • Administrative information of the healthcare system is also included (visits, care sites, etc.).

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Concept Names

  • Names are imported from the source vocabulary.
  • Each concept has one preferable name, always in English.
  • Names in other languages are stored in the CONCEPT_SYNONYM table.
  • If the source vocabulary has multiple names for a concept, the most expressive one is selected, and others are stored in the CONCEPT_SYNONYM table under the same CONCEPT_ID key.

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Standard Concept

  • The standard_concept field is an integral part of the OMOP Vocabulary to define concept status (Standard/Classification/Non-standard).
  • It resides within the CONCEPT table and contains such values as ‘S’, ‘C’, NULL respectively
  • Every record in event tables should ideally be mapped to a standard concept.

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Domains

  • Each concept is assigned a domain in the DOMAIN_ID field.
  • Domain IDs are short case-sensitive unique alphanumeric identifiers representing the concept's semantic domain.
  • Examples of domain identifiers include "Condition," "Drug," "Procedure," "Visit," "Device," "Specimen," etc.
  • Domains group and direct the recording of clinical events or event attributes to specific CDM tables and fields.
  • Ambiguous or pre-coordinated concepts can belong to a combination of domains.
  • Standard Concepts are always assigned a singular domain.

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Measurement Domain

  • Contains records of structured measurements represented by numerical or categorical values.
  • Terms related to measurements are obtained through standardized testing or examination of a person or person's sample.
  • Types of Measurements:
    • Laboratory tests/procedures
    • Vital signs
    • Pathology reports with quantitative findings
    • Assessment instruments such as staging, scales, and scores (but not all of them)
    • Observable entities with information about a quality or property to be observed (but not all of them)
    • Some Clinical Findings with qualitative results of testing

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Procedure Domain

  • Contains records of activities or processes ordered by/carried out by a healthcare provider on the patient with a diagnostic or therapeutic purpose.
  • Examples of procedures: surgical interventions, diagnostic tests and imaging, therapeutic procedures
  • Measurement vs. Procedure
    • Measurement deals with quantities, sizes, weights, distances, or capacities of a substance compared to a designated standard.
    • A genuine Procedure does not specify a result

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Observation Domain

  • Captures clinical facts about a person obtained in the context of examination, questioning or a procedure.
  • Any data that cannot be represented by any other domains, such as social and lifestyle facts, medical history, family history, etc. are recorded here.

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Drug Domain

  • Captures records related to the utilization of a Drug when ingested or otherwise introduced into the body.
  • A Drug, in this context, refers to a biochemical substance formulated to exert a specific physiological or biochemical effect when administered to a person.
  • Drug concepts are used to record instances when a person takes or is exposed to a Drug for medical purposes.
  • Drug exposure records encompass various drug forms, such as oral medications, injections, topical applications, etc.
  • The administration routes may include oral, intravenous, intramuscular, and others.

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Condition Domain

  • Comprises records of a person indicating the possible presence of a disease or medical condition, expressed as a diagnosis, sign, or symptom.
  • Conditions can be observed by a healthcare provider or reported by the patient, encompassing a range of states from mere symptom observation to fully established diagnoses.

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Device Domain

  • Captures information about a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action.
  • Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material).

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Domains and CDM Event Tables

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Domain

Event table to populate

Measurement

Observation

Procedure

Condition

Drug

Device

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Uncertainties in Domain Assignment

The assignment of concepts to specific domains can sometimes be controversial due to a few reasons:

  • The interpretation of clinical data can vary between healthcare providers and researchers.
  • Health care data can be quite complex, and many concepts have applications across multiple domains.
  • As our understanding of medicine evolves, the classification of concepts can change.
  • The structure and semantics of source data may vary considerably.
  • Some concepts are broad and can span multiple domains.

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Uncertainties in Domain Assignment

Examples:

  • Certain substances with therapeutic effects, often categorized as 'drugs,' can fall under the 'Device' or 'Observation' domains in some instances.
  • Some procedures, such as CPT4 or HCPCS codes, may sometimes be classified within the 'Measurement' domain.

What to Do:

  • If you believe that a concept has been inaccurately assigned to a domain, you have the option to make changes directly in your instance of the OMOP CDM.
  • Also you are encouraged to submit a domain change using Community Contribution Template #7. The process for submitting these changes is described here.

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Concept Classes

  • Categorize concepts in a different way at the vocabulary level via the CONCEPT_CLASS_ID field
  • Some vocabularies classify their codes or concepts using case-sensitive unique alphanumeric codes
  • Vocabularies have concept classes that classify horizontal and/or vertical levels in their stratified hierarchies.
    • In the vertical model, concept class members can belong to any hierarchical level from the top to the bottom (SNOMED, MedDRA).
    • In the horizontal model, concept classes determine a specific hierarchical level (ICDs, ATC, MedDRA).
    • In mixed model, concept classes do both (CPT4, LOINC)

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Concept Lifecycle: INVALID REASON

  • Vocabularies are dynamic and not permanently fixed
  • Concepts are added and deprecated over time
  • OMOP CDM supports longitudinal patient data, requiring concepts from the past and new ones
  • invalid_reason field provides context about the lifecycle of a concept, capturing the reason why a specific concept is no longer considered valid or active:
    • ‘D’ (deprecated with no successor): the concept has been deprecated without replacement.
    • ‘U’ (updated with successor): the concept has been replaced with a more recent or accurate one.
    • NULL: The concept is currently valid (not a blank string!)

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Questions?

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