TY  - JOUR
T1  - Nadir Hastalıklara Erişim Portalı ORPHANET ve OrphaCode: Yeni Nesil Hastalık Kodlama
TT  - Rare Diseases Access Portal ORPHANET and OrphaCode: New-Era in Disease Nomenclature
AU  - Yücesan, Emrah
AU  - Düzenli, Ömer Faruk
AU  - Özbek, Uğur
PY  - 2025
DA  - October
Y2  - 2025
DO  - 10.53446/actamednicomedia.1651794
JF  - Acta Medica Nicomedia
JO  - Acta Med Nicomedia
PB  - Kocaeli Üniversitesi
WT  - DergiPark
SN  - 2717-8994
SP  - 400
EP  - 408
VL  - 8
IS  - 3
LA  - tr
AB  - Nadir Hastalıklar (NH), bu başlık altında toplanan bir kısım hastalığın, görülme sıklıkları dikkate alınarak isimlendirilmesi sonucu ortaya çıkan, görece yeni bir tanımlamadır. Tanım olarak NH, küresel ölçekte kabul görmüş olsa da, ülkelerin kendi gerçekliklerinden hareketle farklı kapsamlar altında incelenmektedir. NH’lerin tümünün bir araya getirilerek kataloglandığı, AB tarafından fonlanan ve aşağıda ayrıntılandırılacak olan Orphanet portalına göre 6172 adet tanılı hastalık (%71,9’u genetik nedenlidir ve %69,9’u çocukluk çağı başlangıçlıdır), NH başlığı altında sınıflandırılmıştır. AB’nin kabul ettiği prevalans değeri dikkate alındığında ve nadir kanserlerin, enfeksiyon hastalıklarının ve zehirlenmelerin dışlandığı bir çalışmanın sonuçlarına göre dünya genelinde 263-446 milyon bireyin NH’den mustarip olduğu bildirilmiştir. Hangi hastalığın “nadir” olacağına karar verilmesi, prevalans değerlerine göre belirlenirken eş zamanlı olarak bu hastalıklara dair verilerin bütünleştirilmesinin gereği ortaya çıkmıştır. Farklı referanslardan köken olan NH terminolojilerinin sağlık bilgi sistemlerinde tektipleştirilmesi, başlangıç olarak hastalıkların kodlarının belirlenmesinde bir gereklilik olarak ortaya çıkmaktadır. NH, ICD-10, ICD-11, SNOMED-CT, OMIM, MeSH, MeDRA, UMSL ve GARD olarak farklı şekillerde kodlar içeren sistemler bulunmaktadır. Orphanet veri tabanında ise 6200’ün üzerinde hastalık (bu hastalıkların alt tipleri dahil edilmeden) listelenmiştir. Bu gruptaki hastalıkların yaklaşık %72’si genetik temellidir ve %84,5’inin prevalansı
KW  - Nadir hastalıklar
KW  - Orphanet
KW  - OPRHAcode
N2  - Rare Diseases (RD) is a relatively new definition that emerged as a result of naming certain diseases under this category based on their prevalence. Although RD is globally recognized as a definition, different countries examine them within various scopes according to their own realities. According to the Orphanet portal, funded by the EU and detailed below, a total of 6,172 diagnosed diseases (71.9% of which have genetic causes and 69.9% of which have childhood onset) are classified under the RD category. Considering the prevalence value accepted by the EU and excluding rare cancers, infectious diseases, and poisonings, it has been reported that 263–446 million individuals worldwide suffer from RD. The classification of a disease as “rare” is determined by prevalence values, while simultaneously highlighting the need to integrate data on these diseases. Standardizing RD terminologies, originating from various references, within health information systems is initially necessary for defining disease codes. RD coding systems include ICD-10, ICD-11, SNOMED-CT, OMIM, MeSH, MeDRA, UMLS, and GARD. The Orphanet database lists over 6,200 diseases (excluding subtypes). Approximately 72% of these diseases have a genetic basis, and 84.5% have a prevalence of
CR  - Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-173. doi:10.1038/s41431-019-0508-0
CR  - Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet. 2018;19(5):253-268. doi:10.1038/nrg.2017.116
CR  - Richter T, Nestler-Parr S, Babela R, et al. Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015;18(6):906-914.
doi:10.1016/j.jval.2015.05.008
CR  - Fernandez-Marmiesse A, Gouveia S, Couce ML. NGS Technologies as a Turning Point in Rare Disease Research, Diagnosis and Treatment. Curr Med Chem. 2018;25(3):404-432. doi:10.2174/0929867324666170718101946
CR  - Cui Y, Han J. Defining rare diseases in China. Intractable Rare Dis Res. 2017;6(2):148-149. doi:10.5582/irdr.2017.01009
CR  - Herder M. What Is the Purpose of the Orphan Drug Act? PLoS Med. 2017;14(1):e1002191.
doi:10.1371/journal.pmed.1002191
CR  - Putkowski S. National Organization for Rare Disorders (NORD): providing advocacy for people with rare disorders. NASN Sch Nurse. 2010;25(1):38-41. doi:10.1177/1942602X09352796
CR  - Maiella S, Rath A, Angin C, Mousson F, Kremp O. [Orphanet and its consortium: where to find expert-validated information on rare diseases]. Rev Neurol (Paris). 2013;169 Suppl 1:S3-8. doi:10.1016/S0035-3787(13)70052-3
CR  - Pavan S, Rommel K, Mateo Marquina ME, Höhn S, Lanneau V, Rath A. Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017;12(1):e0170365. doi:10.1371/journal.pone.0170365
CR  - Mazzucato M, Pozza LVD, Facchin P, et al. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability. Orphanet J Rare Dis. 2023;18(1):267. doi:10.1186/s13023-023-02864-6
CR  - Aymé S, Bellet B, Rath A. Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. Orphanet J Rare Dis. 2015;10:35. doi:10.1186/s13023-015-0251-8
CR  - Rare diseases. Erişim Tarihi: 13 Aralık, 2024. https://www.who.int/standards/classifications/frequently-asked-questions/rare-diseases
CR  - European Commission. Recommendation on Ways to Improve Codification for Rare Diseases.; 2016. Erişim Tarihi:13 Aralık, 2024. https://health.ec.europa.eu/system/fles/2016-11/recommendation_coding_cegrd_en_0.pdf
CR  - Orphanet. Eprocurement: Standard Operating Procedures (SOPs).; 2023. Erişim Tarihi: 13 Aralık, 2024. https://www.orpha.net/pdfs/orphacom/special/eproc_SOPs.pdf
CR  - Orphanet: Quality charter About Orphanet. Erişim Tarihi: 13 Aralık, 2024. https://www.orpha.net/en/other-information/about_orphanet
CR  - Orphanet. Orphanet Network: Members of the Management Board.; 2024. Erişim Tarihi: 13 Aralık, 2024. https://www.orpha.net/pdfs/orphacom/cahiers/docs/GB/Orphanet_Network_MB_members.pdf
CR  - Angin C, Mazzucato M, Weber S, et al. Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project. Orphanet J Rare Dis. 2024;19(1):28. doi:10.1186/s13023-024-03030-2
CR  - Fung KW, Xu J, Bodenreider O. The new International Classification of Diseases 11th edition: a comparative analysis with ICD-10 and ICD-10-CM. J Am Med Inform Assoc. 2020;27(5):738-746. doi:10.1093/jamia/ocaa030
CR  - Orphanet. Orphanet Survey 2023.; 2023. Erişim Tarihi: 13 Aralık, 2024.
https://www.orpha.net/pdfs/orphacom/cahiers/docs/GB/Orphanet_survey2023.pdf
CR  - Brasil S, Pascoal C, Francisco R, Dos Reis Ferreira V, Videira PA, Valadão AG. Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter? Genes (Basel). 2019;10(12):978. doi:10.3390/genes10120978
CR  - Visibelli A, Roncaglia B, Spiga O, Santucci A. The Impact of Artificial Intelligence in the Odyssey of Rare Diseases. Biomedicines. 2023;11(3):887.doi:10.3390/biomedicines11030887
CR  - Irissarry C, Burger-Helmchen T. Using Artificial Intelligence to Advance the Research and Development of Orphan Drugs. Businesses. 2024;4(3):453-472. doi:10.3390/businesses4030028
CR  - Choon YW, Choon YF, Nasarudin NA, et al. Artificial intelligence and database for NGS-based diagnosis in rare disease. Front Genet. 2023;14:1258083. doi:10.3389/fgene.2023.1258083
CR  - Orphanet: Clinical signs and symptoms; ORPHA:391411 Atypical juvenile parkinsonism. Erişim Tarihi: 13 Aralık, 2024. https://www.orpha.net/en/disease/sign/391411
UR  - https://doi.org/10.53446/actamednicomedia.1651794
L1  - https://dergipark.org.tr/tr/download/article-file/4663259
ER  -