National rare disease registry may improve care for patients

In Sweden, more than 500,000 individuals live with a rare condition.

Globally, approximately 7,000 distinct rare diseases have been identified, the majority of which have a genetic etiology.

Expertise regarding these diagnoses is often limited among health care professionals.

Furthermore, the lack of harmonized diagnostic coding in health information systems can result in delayed diagnosis, fragmented care and suboptimal treatment. ...