Table 1 Characteristics of the individuals with rare and unknown disease of the 522 RUDs reference sites involved in this study between 2019 and 2020
All | Children | Adults | ||||
|---|---|---|---|---|---|---|
2019 | 2020 | 2019 | 2020 | 2019 | 2020 | |
Patients (n) | 145,056 | 132,282 | 58,087 | 56,124 | 85,076 | 73,839 |
Sex ratio (M/F) | 0.98 | 0.99 | 1.17 | 1.17 | 0.86 | 0.87 |
Number of visits (n) | 300,019 | 263,380 | 122,155 | 116,347 | 175,295 | 143,565 |
Age (years) | 25 [10–55] | 22 [9–52] | 8 [4–13] | 8 [3–12] | 50 [32–66] | 49 [32–65] |
New confirmed diagnosis (n) | 16,799 | 8949 | 8306 | 5113 | 8494 | 3837 |
Levels of Diagnostics (n) | ||||||
Confirmed | 223,012 | 188,304 | 82,748 | 75,562 | 139,513 | 111,578 |
Ongoing confirmation | 34,104 | 36,468 | 16,294 | 19,398 | 16,897 | 15,696 |
Probable | 20,065 | 19,910 | 9110 | 10,000 | 10,699 | 9624 |
Unknown | 19,830 | 15,623 | 12,438 | 9821 | 6755 | 5177 |
Missing | 3008 | 3075 | 1565 | 1566 | 1431 | 1490 |