Country / Region
EMEA
Tags
Clinical Practice, Data analytics, Implementation, Innovation, Mapping
University Hospitals Leuven launched a project enabling clinicians to directly code diagnoses in the problem list using SNOMED-CT (SCT), ensuring structured documentation in the EPR. The initiative focuses on creating specialty-tailored diagnosis lists, developed with in-house-terminologists.
A critical need arises in rare disease (RD) care, where physicians require Orphanet coding, unsupported by the EPR. Though the system's SCT-only design simplifies queries and ensures transparency, the hospital uses a SCT-Orphanet mapping to bridge this gap. Dedicated SCT-concepts from the mapping are preloaded into the EPR, allowing RD coding in SCT while preserving Orphanet traceability. These are extracted to the datawarehouse. To date, 6258 unique RD patients have been registered, using 669 Orphanet terms and 1120 SCT terms. The discrepancy stems from a hospital-curated extension list of RDs not yet in the mapping but flagged by clinicians. Challenges remain: the current mapping includes 94.9% of Orphanet concepts at disorder level, but only 29.9% at subtype level, though subtypes often coexist in both terminologies. This leads to underreporting: a one-time analysis using SCT-hierarchies and the mapping increased RD patient extraction by 20%; this cascade approach counted child terms in the SCT hierarchy as RDs when linked to a parent Orphanet code (adding 10833 SCT-concepts to the official 6664 entries). Newly described RDs face delays awaiting annual mapping update; Orphanet added 166 new RDs in 2024. Clinicians emphasize the need to document causative genes as a future terminology priority. This project shows how mappings can overcome EPR limitations, enabling standardized RD-registration in constrained environments.
Description
This initiative at UZ Leuven focuses on standardizing diagnosis coding in the electronic patient record (EPR) by implementing SNOMED CT (SCT) as the primary terminology for clinician-driven problem list documentation. The project spans:
* Clinical Adoption:
* Development of specialty-specific diagnosis lists in collaboration with terminologists, enabling clinicians to code diagnoses directly in SCT at the point of care.
* Rare Disease (RD) Workflow:
* Addressing the gap in Orphanet coding (unsupported in the EPR) via a custom SCT-Orphanet mapping, allowing RD documentation in SCT while preserving traceability to Orphanet.
* Preloading mapped SCT terms into the EPR to streamline RD registration.
* Data Extraction & Challenges:
* Automated extraction of coded RD data to the warehouse, with ongoing validation to ensure accuracy.
* Maintenance of an internal extension list for RDs not yet covered by the official mapping.
* Future Priorities:
* Mapping expansion: Addressing gaps for RD subtypes and newly described diseases, which face delays due to annual mapping update cycles.
* Gene-Disease Links: Developing terminology support to capture causative genes, a key unmet need for RD characterization.
Scope
SCT was adopted as the primary clinical terminology for this initiative due to the following key factors:
* EPR system mandate
* Our EPR (KWS) requires SCT as its native terminology standard for structured data entry, ensuring system-wide consistency and interoperability.
* Comprehensive clinical coverage
* SCT's broad scope covers all medical domains, allowing unified coding of both common and rare diagnoses within a single terminology framework.
* This eliminates the need for multiple parallel coding systems, reducing complexity for clinicians.
* Mapping Capabilities
* While our clinicians prefer Orphanet for rare diseases, SCT's mapping functionality to external terminologies provides a pragmatic workaround:
* The existing SNOMED CT-Orphanet mapping enables rare disease coding while preserving traceability to Orphanet codes.
* Mapped concepts are preloaded in the EPR for clinician convenience.
* Regulatory and Interoperability Benefits
* SNOMED CT is an international standard and its use facilitates data exchange with other healthcare institutions and research partners.
How SNOMED CT will be used
In this project, SNOMED CT (SCT) serves as the primary terminology standard for encoding diagnoses in the electronic patient record (EPR), with specific applications:
* Structured problem list documentation:
* Clinicians directly code all clinically relevant diagnoses in SCT at the point of care, ensuring standardized data entry in the problem list.
* Specialty-specific subsets of SCT (e.g., for cardiology, neurology) are curated with terminologists to streamline clinician workflows.
* Rare Disease (RD) coding via mapping:
* To address the lack of native Orphanet support in the EPR, an SCT-Orphanet mapping enables RD documentation:
* Predefined SCT concepts (e.g., "Disorders" and "Findings" from the mapping) are preloaded into the EPR.
* Physicians select SCT terms that map to Orphanet codes, preserving traceability for downstream use (e.g., registries, analytics).
* Data extraction & interoperability:
* Coded SCT diagnoses are extracted to the data warehouse, where the mapping enables automatic translation to Orphanet for RD-specific reporting.
* Internal validation ensures consistency, supplemented by a hospital-maintained SCT extension list for RDs not yet mapped.
Why SNOMED CT will be used
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