ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability

  1. Mazzucato, Monica ORCID logo
  2. Pozza, Laura Visonà Dalla
  3. Facchin, Paola
  4. Angin, Cèline
  5. Agius, Francis
  6. Cavero-Carbonell, Clara
  7. Corrochano, Virginia
  8. Hanusova, Katerina
  9. Kirch, Kurt
  10. Lambert, Deborah
  11. Lucano, Caterina
  12. Maiella, Sylvie
  13. Panzaru, Monica
  14. Rusu, Cristina
  15. Weber, Stefanie
  16. Zurriaga, Oscar
  17. Zvolsky, Miroslav
  18. Rath, Ana

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WeightNameValue
1000 Titel
  • ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
1000 Autor/in
  1. Mazzucato, Monica |
  2. Pozza, Laura Visonà Dalla |
  3. Facchin, Paola |
  4. Angin, Cèline |
  5. Agius, Francis |
  6. Cavero-Carbonell, Clara |
  7. Corrochano, Virginia |
  8. Hanusova, Katerina |
  9. Kirch, Kurt |
  10. Lambert, Deborah |
  11. Lucano, Caterina |
  12. Maiella, Sylvie |
  13. Panzaru, Monica |
  14. Rusu, Cristina |
  15. Weber, Stefanie |
  16. Zurriaga, Oscar |
  17. Zvolsky, Miroslav |
  18. Rath, Ana |
1000 Erscheinungsjahr 2023
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2023-09-04
1000 Erschienen in
1000 Quellenangabe
  • 18(1):267
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2023
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1186/s13023-023-02864-6 |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Background Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021. Results Overall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence (< 1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases. Conclusions ORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.
1000 Sacherschließung
lokal Epidemiology
lokal Coding
lokal Public health
lokal Orphanet
lokal Diagnoses
lokal ICD-10
lokal ORPHAcodes
lokal Rare diseases
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0001-6523-5458|https://frl.publisso.de/adhoc/uri/UG96emEsIExhdXJhIFZpc29uw6AgRGFsbGE=|https://frl.publisso.de/adhoc/uri/RmFjY2hpbiwgUGFvbGE=|https://frl.publisso.de/adhoc/uri/QW5naW4sIEPDqGxpbmU=|https://frl.publisso.de/adhoc/uri/QWdpdXMsIEZyYW5jaXM=|https://frl.publisso.de/adhoc/uri/Q2F2ZXJvLUNhcmJvbmVsbCwgQ2xhcmE=|https://frl.publisso.de/adhoc/uri/Q29ycm9jaGFubywgVmlyZ2luaWE=|https://frl.publisso.de/adhoc/uri/SGFudXNvdmEsIEthdGVyaW5h|https://frl.publisso.de/adhoc/uri/S2lyY2gsIEt1cnQ=|https://frl.publisso.de/adhoc/uri/TGFtYmVydCwgRGVib3JhaA==|https://frl.publisso.de/adhoc/uri/THVjYW5vLCBDYXRlcmluYQ==|https://frl.publisso.de/adhoc/uri/TWFpZWxsYSwgU3lsdmll|https://frl.publisso.de/adhoc/uri/UGFuemFydSwgTW9uaWNh|https://frl.publisso.de/adhoc/uri/UnVzdSwgQ3Jpc3RpbmE=|https://frl.publisso.de/adhoc/uri/V2ViZXIsIFN0ZWZhbmll|https://frl.publisso.de/adhoc/uri/WnVycmlhZ2EsIE9zY2FyIA==|https://frl.publisso.de/adhoc/uri/WnZvbHNreSwgTWlyb3NsYXY=|https://frl.publisso.de/adhoc/uri/UmF0aCwgQW5h
1000 Label
1000 Förderer
  1. European Union’s Health Programme |
1000 Fördernummer
  1. 826607 RD-CODE
1000 Förderprogramm
  1. -
1000 Dateien
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer European Union’s Health Programme |
    1000 Förderprogramm -
    1000 Fördernummer 826607 RD-CODE
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6472868.rdf
1000 Erstellt am 2023-12-28T10:59:30.682+0100
1000 Erstellt von 280
1000 beschreibt frl:6472868
1000 Bearbeitet von 317
1000 Zuletzt bearbeitet 2024-01-02T08:33:30.576+0100
1000 Objekt bearb. Tue Jan 02 08:33:16 CET 2024
1000 Vgl. frl:6472868
1000 Oai Id
  1. oai:frl.publisso.de:frl:6472868 |
1000 Sichtbarkeit Metadaten public
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