Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.

ABSTRACT:

Background

In European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare diseases (RD) are complex, RD patients can remain undiagnosed for many years. The period of searching for a diagnosis, called diagnostic delay, sometimes leads to a diagnostic dead end when the patient's disease is impossible to diagnose after undergoing all available investigations. In recent years, extensive efforts have been made to support the implementation of ORPHA nomenclature in health information systems (HIS) so as to allow RD coding. Until recently, the nomenclature only encompassed codes for specific RD. Persons suffering from a suspected RD who could not be diagnosed even after full investigation, could not be coded with ORPHAco

SUBMITTER: Angin C 

PROVIDER: S-EPMC10822150 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature