Read the paper at https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01831-3
How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system
About 30 million people in the EU and USA, respectively, suffer from a rare disease. Driven by European legislative requirements, national strategies for the improvement of care in rare diseases are being developed.