Transition database for rare diseases and its use for clinical documentation

Area of Science:

• Medical Informatics
• Rare Disease Research
• Clinical Documentation

Background:

• Rare diseases present significant challenges in diagnosis and management due to their infrequency and poor documentation.
• Current coding systems, like the International Statistical Classification of Diseases and Related Health Problems, lack the specificity required for rare diseases.
• The ORPHAcode offers a precise method for naming and classifying rare diseases, crucial for both clinical practice and research.

Purpose of the Study:

• To present a concept and implementation for storing and mapping ORPHAcodes.
• To establish a Transition Database for Rare Diseases integrating Orphanet catalog information.
• To facilitate clinical documentation and monitoring of rare disease Key Performance Indicators within a hospital setting.

Main Methods:

• Development of a five-step process for setting up the Transition Database.
• Utilization of open-source tools and the DataVault 2.0 logic for database implementation.
• Integration of the Orphanet catalog data into the Transition Database.

Main Results:

• Successful implementation of a Transition Database for Rare Diseases.
• The database serves as a foundation for clinical information systems and rare disease KPI monitoring.
• The approach is adaptable to local needs and extensible for additional terminologies.

Conclusions:

• The developed Transition Database effectively addresses the need for precise rare disease coding using ORPHAcode.
• This implementation enhances clinical documentation and supports the monitoring of rare disease indicators.
• The adaptable and extensible nature of the solution allows for broad application in healthcare and research settings.