Evidence map›Paper›PMID 42036306›Full record

SynthesisPharmacoepidemiology and drug safety2026

A Systematic Review to Summarize and Critically Appraise Existing Phenotype Libraries Using Electronic Health Records.

Sima Mohammadi, Cori Campbell, Miriam C J M Sturkenboom, Tiago A Vaz

Abstract readSystematic Review
In one paragraph

Synthesis in Pharmacoepidemiology and drug safety, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Sima MohammadiDepartment of Data Science & Biostatistics, University Medical Center Utrecht (UMCU), Utrecht, the Netherlands.ORCID https://orcid.org/0009-0009-8659-4463
Cori CampbellDepartment of Data Science & Biostatistics, University Medical Center Utrecht (UMCU), Utrecht, the Netherlands.
Miriam C J M SturkenboomDepartment of Data Science & Biostatistics, University Medical Center Utrecht (UMCU), Utrecht, the Netherlands.
Tiago A VazDepartment of Data Science & Biostatistics, University Medical Center Utrecht (UMCU), Utrecht, the Netherlands.

Funding

Vaccine Monitoring Collaboration for Europe (VAC4EU)
6 · The paper itself

Abstract

purposePharmacoepidemiology and population health studies using electronic health care records (EHRs) must define study variables through available electronic data. These variables are operationalized through phenotypes, which are a defined set of criteria used to identify specific traits or medical conditions. There is diversity across phenotype libraries (collections of code lists or algorithms) which intend to standardize these sets of criteria. This review aimed to characterize the landscape of phenotype libraries and how phenotypes are constructed, validated, managed, and reused across research settings.

methodsWe conducted a systematic review of existing phenotype libraries to appraise their attributes. We systematically searched three databases (Scopus, PubMed, and Web of Science) up to November 2025 to identify studies on key characteristics of phenotype libraries. The search combined Medical Subject Headings (MeSH) terms related to "electronic health record," "phenotype algorithm," and "phenotype library". A structured hand search was performed to identify relevant web-based resources without accompanying publications to ensure comprehensive inclusion of libraries available to date. We extracted information on library size, vocabularies, phenotype construction methods, validation practices, management, and portability.

resultsOf 336 articles, 37 met eligibility criteria for full-text review, of which 25 were excluded because they were not EHR-based phenotype libraries (representing single algorithms, genomic resources, or study-specific phenotypes rather than reusable libraries), leaving 10 unique libraries described across 12 articles. A structured hand search identified seven more libraries. In total, 17 phenotype libraries met the inclusion criteria, including Education and Child Health Insights from Linked Data (ECHILD) Phenotype Code List Repository, Centralized Interactive Phenomics Resource (CIPHER), Chronic Condition Data Warehouse (CCW), ClinicalCodes Library, Clinical Classifications Software Refined (CCSR), ComPLy, CALIBER (Health Data Research UK (HDR UK) Phenotype Library or CALIBER), Jigsaw Algorithm Repository (JAR), Manitoba Centre for Health Policy (MCHP) Concept Dictionary, Open CodeLists, Observational Health Data Sciences and Informatics (OHDSI) ATLAS, PheCode, Phenotype KnowledgeBase (PheKB), Phenotype Execution and Modeling Architecture (PhEMA) Workbench, PheMap, Sharing and Reusing Computable Phenotype Definitions (SharePhe), Value Set Authority Center (VSAC). Libraries varied substantially in scope, size, and phenotype representation, including rule-based algorithms, probabilistic phenotypes, and standardized code groupings. Validation practices were heterogeneous and reported only for a subset of libraries. All the libraries utilized a web-based platform and met at least the minimum requirements for library management, including phenotype definitions, metadata, and version control.

conclusionsWe observed large variations in library construction and validation across diverse libraries built in varied EHR research settings. The transparency of phenotypes and creating computable phenotypes enhance portability and streamline the effective reuse of phenotypes for different systems.

Indexed as

Electronic Health RecordsPharmacoepidemiologyPhenotypeAlgorithmsDigital HealthHumansalgorithmelectronic health recordslibraryphenotype

Identifiers

PMID42036306
PMCPMC13110926

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.