Titre : | List of rare diseases and synonyms in alphabetical order : Methodology |
Revue : | Orphanet Report Series |
Auteurs : | Orphanet ; Rath A ; Ali H |
Type de document : | Article |
Editeur : | Orphanet, 01/2021 |
Collection : | Rare Diseases collection |
Pages : | 4 p |
Note générale : |
To quote this document:
« List of rare diseases and synonyms listed in alphabetical order », Orphanet Report Series, Rare Diseases collection, January 2021 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf Orphanet: Knowledge on rare diseases and orphan drugs. Copyright, INSERM 1999. Available at https://www.orpha.net. |
Langues: | Anglais |
Mots-clés : | maladies rares ; terminologie |
Résumé : |
Orphanet provides a comprehensive list of all rare diseases registered in the Orphanet database, published annually.
In Orphanet, rare diseases are defined using the following approach: • Every entity is defined by its clinical homogeneity, regardless of its aetiology or the number of causal genes identified; • The rarity is defined according to the European legislation defining a prevalence threshold of less than 5 affected persons per 10,000 in the European population (Regulation (EC) N°141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products Preferred names and synonyms of all diseases present in the Orphanet nomenclature (active diseases) are listed in alphabetical order with their respective ORPHAcodes in a spreadsheet available at the following link : http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.xlsx |
Lien associé : |
Orphanet website Table Link Orphanet List_of_rare_diseases_in_alphabetical_order |
Voir aussi : |
Documents numériques (1)
OrphanetReportSeries_jan2021_List_RD_AlphabeticalOrder.pdf Adobe Acrobat PDF |