Transition database for rare diseases and its use for clinical documentation

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

Abstract

Patients with rare diseases commonly suffer from severe symptoms as well as chronic and sometimes life-threatening effects. Not only the rarity of the diseases but also the poor documentation of rare diseases often leads to an immense delay in diagnosis. One of the main problems here is the inadequate coding with common classifications such as the International Statistical Classification of Diseases and Related Health Problems. Instead, the ORPHAcode enables precise naming of the diseases. So far, just few approaches report in detail how the technical implementation of the ORPHAcode is done in clinical practice and for research. We present a concept and implementation of storing and mapping of ORPHAcodes. The Transition Database for Rare Diseases contains all the information of the Orphanet catalog and serves as the basis for documentation in the clinical information system as well as for monitoring Key Performance Indicators for rare diseases at the hospital. The five-step process (especially using open source tools and the DataVault 2.0 logic) for set-up the Transition Database allows the approach to be adapted to local conditions as well as to be extended for additional terminologies and ontologies.

Details

Original languageEnglish
JournalHealth Informatics Journal
Volume30
Issue number2
Publication statusPublished - Apr 2024
Peer-reviewedYes

External IDs

Scopus 85195504497
Mendeley 92e4f514-586c-3799-8bb1-49b1c434e65b
ORCID /0000-0002-9888-8460/work/162845820

Keywords

ASJC Scopus subject areas

Keywords

  • rare diseases, clinical documentation, ORPHAcodes, semantic mapping