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Table 1 Description of the study settings per country/region and number of ORPHAcodes collected during the study period

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

Country/region

N ORPHAcodesb

Data sources

Czech Republic

265

Congenital malformation registry/RD expert Centres

Malta

707

Congenital malformation registry/cancer registry/treatment abroad data

Romania

113

Genetic departments/RD expert Centres

Spaina

2378

RD regional population-based registries/RD expert Centres

Veneto region-Italy

1089

RD regional population-based registry/RD expert Centres

  1. aParticipating Consortium (RD regional registries of Basque Country, Castile and Leon, Navarre, Catalonia, Murcia and Valencia Region, the Rare Diseases Joint Research Unit FISABIO-UVEG and the CIBERER)
  2. bOnly ORPHAcodes corresponding to active RD entities in the Orphanet nomenclature (version July 2022) have been considered
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172