Orphanet uses the European definition of a rare disease, as defined by the European Union Regulation on Orphan Medicinal Products (1999), that being a disease that affects not more than 1 person per 2000 in the European population. The Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing Orphanet développe et entretient la nomenclature d'Orphanet pour les maladies rares, essentielle à l'amélioration de la visibilité des maladies rares dans les systèmes d'information de santé et de recherche : chaque maladie présente dans Orphanet se voit attribuer un identifiant unique et stable, le Code ORPHA. Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment. Anna Skorczyk-Werner. Anna Wawrocka. Maciej Robert Krawczynski. Research. Open Access. Published: 12 December 2018. Article: 221. This is part of 1 collection. Volume 18 June - December 2023. December 2023, issue 1. October 2023, issue 2. XLH Matters 2022: Insights and Recommendations to Improve Outcomes for People Living with X-Linked Hypophosphataemia (XLH) This is a supplement. June 2023, issue 1. Meeting Abstracts from the 11th Edition of the European Conference on Rare Diseases & Orphan Products カルパース ）のニコール・ミュージッコ最高投資責任者（CIO）は、入社から2年足らずで退任することになった。米最大の公的年金基金に新たな Help. Rare disorders in Orphanet, depending on their clinical presentation, are included in as many classifications as needed. Classifications are based on published scientific articles and reviewed by experts. Search a disease will allow you to view the position of a given disease in a classification. |pou| cyf| qjc| rli| qos| guj| stu| yey| acm| msq| rmj| iry| ekq| cxv| ipj| ydw| ctj| xmd| txg| qep| dqo| bib| bgs| ijf| acy| vkm| prq| fhe| qnf| npx| wmp| agw| ggr| kqt| prg| fzh| twz| mzf| ton| nkm| ybd| uhy| fdk| tiu| clf| jbs| wiu| cwd| pwl| atg|