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Table 4 Distribution of ORPHAcodes collected during the study period per country/region and per ICD-10 alignment concept as assigned by Orphanet (version 2022)

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

Alignment concept

Czech Republic

Malta

Romania

Spain

Veneto region-IT

All countries/regionsa

N

%

N

%

N

%

N

%

N

%

N

%

E (Exact mapping)

39

2.1

108

3.4

15

3.1

214

3.2

94

1.6

257

10.0

BTNT (ORPHAcode's Broader Term maps to a Narrower Term)

10

16.7

49

18.2

8

15.3

38

10.7

17

10.9

79

3.1

NTBT (ORPHAcode's Narrower Term maps to a Broader Term)

180

76.9

417

70.2

72

73.4

1684

84.2

741

85.5

2149

83.4

ND (not yet decided/unable to decide)—missing

5

4.3

20

8.2

3

8.2

64

1.9

14

2.0

91

3.5

Total

234

100

594

100

98

100

2000

100

866

100

2576

100

  1. aORPHAcodes used in more than one country/region have been considered only once in the global analysis