ORPHAcodes bibliography

  1. Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project. Angin C, Mazzucato M, Weber S, Kirch K, Abdel Khalek W, Ali H, Maiella S, Olry A, Jannot AS, Rath A. Orphanet J Rare Dis. 2024 Jan 27;19(1):28. doi: 10.1186/s13023-024-03030-2. PMID: 38280999 Free PMC article.
  2. Estimating mortality in rare diseases using a population-based registry, 2002 through 2019. Mazzucato M, Visonà Dalla Pozza L, Minichiello C, Toto E, Vianello A, Facchin P. Orphanet J Rare Dis. 2023 Nov 17;18(1):362. doi: 10.1186/s13023-023-02944-7. PMID: 37978388 Free PMC article.
  3. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability. Mazzucato M, Pozza LVD, Facchin P, Angin C, Agius F, Cavero-Carbonell C, Corrochano V, Hanusova K, Kirch K, Lambert D, Lucano C, Maiella S, Panzaru M, Rusu C, Weber S, Zurriaga O, Zvolsky M, Rath A. Orphanet J Rare Dis. 2023 Sep 4;18(1):267. doi: 10.1186/s13023-023-02864-6. PMID: 37667299 Free PMC article.
  4. Overview of patients’ cohorts in the French National rare disease registry. Pichon T, Messiaen C, Soussand L, Angin C, Sandrin A, Elarouci N, Jannot AS; BNDMR infrastructure team. Orphanet J Rare Dis. 2023 Jul 3;18(1):176. doi: 10.1186/s13023-023-02725-2. PMID: 37400917
  5. [Uncovering rare diseases in medical data-coding]. Martin T, Rommel K, Thomas C, Eymann J, Kretschmer T, Berner R, Lee-Kirsch MA, Hebestreit H. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022 Nov;65(11):1133-1142. doi: 10.1007/s00103-022-03598-9. Epub 2022 Oct 14. PMID: 36239768 Free PMC article. Review. German.
  6. Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics. Chung CCY, Wong WHS, Chung BHY. Orphanet J Rare Dis. 2021 Aug 12;16(1):361. doi: 10.1186/s13023-021-01994-z. PMID: 34384469 Free PMC article.
  7. The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases. Rico J, Echevarría-González de Garibay LJ, García-López M, Guardiola-Vilarroig S, Maceda-Roldán LA, Zurriaga Ó, Cavero-Carbonell C. Orphanet J Rare Dis. 2021 Mar 9;16(1):121. doi: 10.1186/s13023-021-01763-y. PMID: 33750434 Free PMC article.
  8. A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland. Gunne E, McGarvey C, Hamilton K, Treacy E, Lambert DM, Lynch SA. Orphanet J Rare Dis. 2020 Nov 4;15(1):311. doi: 10.1186/s13023-020-01574-7. PMID: 33148291 Free PMC article.
  9. Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets. Chiu ATG, Chung CCY, Wong WHS, Lee SL, Chung BHY. Orphanet J Rare Dis. 2018 Aug 28;13(1):147. doi: 10.1186/s13023-018-0892-5. PMID: 30153866 Free PMC article. Review.
  10. [Improving the visibility of rare diseases in health care systems by specific routine coding]. Marx MM, Dulas FM, Schumacher KM. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 May;60(5):532-536. doi: 10.1007/s00103-017-2534-9. PMID: 28349172 German.