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.
  11. Walker CE, Mahede T, Davis G, Miller LJ, Girschik J, Brameld K, Sun W, Rath A, Aymé S, Zubrick SR, Baynam GS, Molster C, Dawkins HJS, Weeramanthri TS. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017 May;19(5):546-552. doi: 10.1038/gim.2016.143. Epub 2016 Sep 22. PMID: 27657686; PMCID: PMC5440569..
  12. Scanlon P, Ridler G, Say G, Kellett M, Charlesworth J, Neil A, Dickinson JL, Burdon K, Jose M, Wallis M. Measuring the impact of rare diseases in Tasmania, Australia. Orphanet J Rare Dis. 2024 Oct 28;19(1):399. doi: 10.1186/s13023-024-03343-2. PMID: 39468681; PMCID: PMC11514960.
  13. Baxter MF, Hansen M, Gration D, Groza T, Baynam G. Surfacing undiagnosed disease: consideration, counting and coding. Front Pediatr. 2023 Oct 25;11:1283880. doi: 10.3389/fped.2023.1283880. PMID: 38027298; PMCID: PMC10646190.
  14. Navarrete-Opazo AA, Singh M, Tisdale A, Cutillo CM, Garrison SR. Can you hear us now? The impact of health-care utilization by rare disease patients in the United States. Genet Med. 2021 Nov;23(11):2194-2201. doi: 10.1038/s41436-021-01241-7. Epub 2021 Jun 28. PMID: 34183788; PMCID: PMC8553605.