The Orphanet Encyclopedia, Terminology and Website in Dutch [OrphaDutch]

Last updated on 11-2-2020 by Lieke Vervoort
January 1, 2013
Project with no end date

Service(s) working on this project

Sciensano's project investigator(s):

Partners

Ingrid Mertens

In short

Although a rare disease only affects a small number of people, a significant portion of the population, estimated at 6-8%, is affected by a rare disease. Due to their rarity, the field of rare diseases suffers from a lack of awareness and knowledge, which hampers proper policy, timely diagnosis and appropriate care and treatment. As a reference resource on rare diseases, Orphanet contributes to address these issues. To improve accessibility, we provide the different Orphanet services (Encyclopedia, Terminology, Website, Reports) in the Dutch language.

Project summary

In Europe, a disease is considered as rare when it affects at most 1 in 2.000 people, and currently six to seven thousand rare diseases are known. Although most genetic diseases are rare, not all rare diseases have a genetic origin and, for many of them, the cause has not yet been elucidated. Some rare diseases manifest at birth or shortly after, while others only appear at a later age. Very often,  these rare diseases are chronic and progressive, and in many cases they are life-threatening and debilitating. While there is no cure for most rare diseases, a correct and timely diagnosis followed by proper treatment and care can improve the life expectancy and the quality of life of patients.

This depends on sufficient medical and scientific knowledge on rare diseases and on appropriate health care policy. However, due to the rare nature of the diseases, there has been a lack of awareness of and knowledge on rare diseases among researchers, health care professionals and policy makers.

To counter these deficits, Orphanet which was established in France in 1997 by the INSERM (French National Institute for Health and Medical Research), became a European project in 2000, and has since grown to become a network of 41 countries and the reference resource on rare diseases, funded by grants from the European Commission and individual Member States. The goals of Orphanet are to improve the visibility of rare diseases, to provide high-quality information about rare diseases, and to contribute to generate knowledge on rare diseases. To this end, Orphanet maintains and offers a range of services, including a nomenclature of rare diseases cross-referenced with other terminologies, as well as a classification of rare diseases, an encyclopaedia on rare diseases and associated genes (written by experts and peer-reviewed, elaborating on different aspects such as clinical features, diagnosis, epidemiology, treatment, etiology and prognosis), an inventory of orphan drugs and a directory of expert services (such as expert centres, medical laboratories and diagnostic tests, patient organisations, research projects, clinical trials, patients registries and biobanks in the different countries of the Orphanet consortium).

These services are freely accessible through a user-friendly website (https://www.orpha.net/) and aimed at a broad range of end-users, ranging from patients to health care professionals, researchers, policy makers, pharmaceutical companies, and others. In this way, Orphanet contributes to improve the diagnosis, treatment and care of patients with a rare disease, and hence decrease the burden on health care systems.

As Orphanet has become a European endeavor, the website and the information contained in the database is published in English and concomitantly and progressively translated in different European languages, including French, Spanish, Italian, German, Dutch, Portuguese and Polish. More languages will be added in the future. In Belgium, the NIHDI finances Sciensano to translate the Orphanet encyclopedia, terminology and structural webpages into Dutch. On the other hand, the Terminology Centre -hosted at the Federal Public Service Health, Food Chain Safety and Environment- works on a Dutch version of the Snomed-CT terminology, to be used in health information systems. We work together with representatives of the Terminology Centre with the common aim to integrate high quality rare disease terms and improve rare disease coding in health information systems

Associated Health Topics

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