The term “rare diseases” is used to refer to diseases that occur in a relatively small number of people. They often involve specific problems because of the fact that they are rare. You can read more about this here.

The Central Registry of Rare Diseases is a database containing certain basic data of all Belgian patients with a rare disease. At present, data is collected only at the genetic centres, but this will later be extended to other centres in order to gain a complete overview. A registry is a valuable source of information for patients and patient organisations, care providers, researchers and authorities, and can contribute to improvements in several areas (including epidemiology, care policy, quality assurance, research, administration).

All the information on the data collection for this Central Registry of Rare Diseases can be found here. The data that are gathered contains the identification details of the genetic centre and the treating physician (NIHDI-numbers), some demographic data about the patient and details of the diagnosis: 

• The demographic data that are gathered about the patient includes: encoded national register number, gender, date of birth, if applicable the date of death, and the zip code for the place of residence.
• In terms of the diagnosis, various data are requested:
  • the date of the first symptoms of the rare disease (defined as the date of the first consultation with a physician for this reason)
  • the date of the first consultation at the specialist healthcare institution
  • the date the current diagnosis was made
  • whether this diagnosis is provisional or definitive
  • the code for the disease within an existing disease classification system
  • the base on which the diagnosis was made (e.g. based on clinical symptoms, genetic test, biochemical test etc.)​.

For any audience, Orphanet ​is the reference portal for information about rare diseases and orphan drugs. The aim of Orphanet is to help to improve diagnosis, care and treatment of patients with a rare disease.