Rare Diseases

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.

Efforts are being made to improve the situation for these patients as part of the Belgian Plan for Rare Diseases (which can be consulted in Dutch or in French). Sciensano is working on a number of actions from the Plan:
- Action 1: improved financing of tests for the diagnosis and follow-up of rare diseases, carried out in Belgium or abroad (website under construction)
- Action 2: quality management at the centres for Human Genetics (website under construction)
- Action 16: Central Registry of Rare Diseases
The Central Registry of Rare Diseases centralises certain data on patients with rare diseases in Belgium, with the aim of improving care and supporting research.
- Action 17: Orphanet Belgium
Anyone looking for further information about one or more of the 7000-8000 known rare diseases can visit the international Orphanet.

​Rare diseases
Rare diseases are diseases that occur in fewer than 5 in 10000 people. You can read more about this here.

Orphanet
Orphanet is an international website that provides information about all known rare diseases.
- Learn about what you can find on Orphanet.
- Go straight to Orphanet.

Central Registry of Rare Diseases (CRRD)
The Central Registry of Rare Diseases centralises certain data on all Belgian patients with a rare disease. Click here to find out more about the Central Registry of Rare Diseases.

Message for Belgian healthcare professionals: trainings on ORPHAcodes

The Rare Diseases team at Sciensano participates as a pilot country in OD4RD (“Orphanet Data for Rare Diseases”), a project co-funded by the European Commission’s EU4Health programme. More information on OD4RD is available here.

Rare diseases are poorly represented in existing medical terminologies in use, and there is no terminology specific to rare diseases, except the domain-specific nomenclature of rare diseases developed by Orphanet (ORPHAcodes). One of the main objectives of this project is to promote the use of ORPHAcodes for codification of rare diseases in the national health information systems, in order to increase the visibility of these patients. Therefore the Rare Diseases team at Sciensano organizes trainings on ORPHAcodes in which the nomenclature and the classification of rare diseases is explained. Additional information on the linearization and the implementation of ORPHAcodes will be provided. Finally, we will act as a national helpdesk, consisting of a member of the Central Registry for Rare Diseases (CRRD) and two members of the Orphanet Belgium team, in collaboration with the Orphanet-INSERM coordinating team, in order to support any professional having questions or issues concerning the use of ORPHAcodes in daily practice.

These trainings are aimed to professionals involved in the field of rare diseases in a clinical context (clinicians, coders, people in charge of registries, IT managers,…). The format of the trainings can be adapted to the needs (ranging from a duration of 2 hours online to a more advanced training of 1 day on site, in French, Dutch and/or English) and were started in spring 2022. Initially, these training courses are intended mainly for professionals working in one of the hospitals recognized for their “rare disease function”. However, any request will be taken into consideration and analyzed on a case-by-case basis.

If you have any questions or wish to express your interest in this training, please send an e-mail to 'orphacodes.belgium@sciensano.be'.