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Autor
Agius, Francis 1 Angin, Cèline 1 Cavero-Carbonell, Clara 1 Corrochano, Virginia 1 Facchin, Paola 1 Hanusova, Katerina 1 Kirch, Kurt 1 Lambert, Deborah 1 Lucano, Caterina 1 Maiella, Sylvie 1 Mazzucato, Monica 1 Panzaru, Monica 1 Pozza, Laura Visonà Dalla 1 Rath, Ana 1 Rusu, Cristina 1 Weber, Stefanie 1 Zurriaga, Oscar 1 Zvolsky, Miroslav 1
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Pracoviště
BfArM Bonn Germany 1 CIBERER Valencia Spain 1 French National Rare Disease Registry... 1 Grigore T Popa University of Medicine... 1 Inserm US14 Orphanet Paris France 1 Institute of Health Information and S... 1 Malta Mater Dei Hospital Msida Malta 1 RD Coordinating Centre Veneto Region ... 1 Rare Diseases Research Unit Foundatio... 1 The Rotunda Hospital Dublin Ireland 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Zeměpisné označení
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
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Autor
Agius, Francis 1 Angin, Cèline 1 Cavero-Carbonell, Clara 1 Corrochano, Virginia 1 Facchin, Paola 1 Hanusova, Katerina 1 Kirch, Kurt 1 Lambert, Deborah 1 Lucano, Caterina 1 Maiella, Sylvie 1 Mazzucato, Monica 1 Panzaru, Monica 1 Pozza, Laura Visonà Dalla 1 Rath, Ana 1 Rusu, Cristina 1 Weber, Stefanie 1 Zurriaga, Oscar 1 Zvolsky, Miroslav 1
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Pracoviště
BfArM Bonn Germany 1 CIBERER Valencia Spain 1 French National Rare Disease Registry... 1 Grigore T Popa University of Medicine... 1 Inserm US14 Orphanet Paris France 1 Institute of Health Information and S... 1 Malta Mater Dei Hospital Msida Malta 1 RD Coordinating Centre Veneto Region ... 1 Rare Diseases Research Unit Foundatio... 1 The Rotunda Hospital Dublin Ireland 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Zeměpisné označení
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
NLK
BioMedCentral
od 2006-12-01
BioMedCentral Open Access
od 2006
Directory of Open Access Journals
od 2006
Free Medical Journals
od 2006
PubMed Central
od 2006
Europe PubMed Central
od 2006
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2006-01-01
Open Access Digital Library
od 2006-01-01
Medline Complete (EBSCOhost)
od 2006-01-01
Health & Medicine (ProQuest)
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2006
Springer Nature OA/Free Journals
od 2006-12-01
PubMed
37667299
DOI
10.1186/s13023-023-02864-6
Knihovny.cz E-zdroje
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.
- MeSH
- databáze faktografické MeSH
- lidé MeSH
- nemocnice * MeSH
- vzácné nemoci * epidemiologie MeSH
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- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Evropa MeSH
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