Table 1.
Survival of the cohort at 1, 5 and 10 years from diagnosis for the total number of cases and for each nosological group
| CASES (n) | Age at diagnosis (mean ± standard deviation) | % males | 1 year | 95% CI | 5 years | 95% CI | 10 years | 95% CI | |
|---|---|---|---|---|---|---|---|---|---|
| Peripheral and central nervous system disorders | 5928 | 53.0 ± 21.3 | 51.6 | 0.953 | 0.948–0.959 | 0.796 | 0.785–0.807 | 0.679 | 0.664–0.694 |
| Congenital anomalies, chromosomal aberrations and genetic syndromesa | 2377 | 17.4 ± 18.2 | 51.5 | 0.998 | 0.995–1.000 | 0.984 | 0.977–0.989 | 0.961 | 0.949–0.970 |
| Circulatory system diseases | 2177 | 55.4 ± 19.7 | 35.2 | 0.982 | 0.975–0.987 | 0.917 | 0.903–0.929 | 0.800 | 0.776–0.821 |
| Diseases of the musculoskeletal system and connective tissue | 1826 | 57.3 ± 15.5 | 18.9 | 0.973 | 0.964–0.980 | 0.892 | 0.875–0.907 | 0.768 | 0.740–0.794 |
| Metabolic diseases | 1773 | 36.7 ± 28.0 | 58.2 | 0.962 | 0.951–0.963 | 0.899 | 0.883–0.914 | 0.845 | 0.822–0.865 |
| Respiratory diseases | 1639 | 60.1 ± 16.4 | 57.3 | 0.947 | 0.934–0.957 | 0.719 | 0.687–0.749 | 0.565 | 0.520–0.608 |
| Diseases of the skin and subcutaneous tissue | 1413 | 58.9 ± 22.3 | 43.9 | 0.949 | 0.936–0.960 | 0.811 | 0.786–0.833 | 0.715 | 0.677–0.748 |
| Diseases of the blood and blood-forming organs | 1361 | 27.9 ± 22.3 | 48.6 | 0.992 | 0.986–0.996 | 0.972 | 0.960–0.981 | 0.962 | 0.947–0.973 |
| Immune system disorders | 1331 | 38.5 ± 23.0 | 38.8 | 0.998 | 0.994–1.000 | 0.969 | 0.956–0.979 | 0.903 | 0.875–0.925 |
| Disorders of the eye and adnexa | 1301 | 37.5 ± 18.6 | 57.3 | 0.998 | 0.993–0.999 | 0.989 | 0.981–0.994 | 0.964 | 0.947–0.975 |
| Endocrine diseases | 1036 | 24.1 ± 20.5 | 26.7 | 1.000 | – | 0.988 | 0.976–0.994 | 0.957 | 0.933–0.973 |
| Neoplasms | 987 | 31.5 ± 22.7 | 45.2 | 0.986 | 0.977–0.992 | 0.944 | 0.926–0.958 | 0.923 | 0.899–0.941 |
| Diseases of the genitourinary system | 489 | 43.0 ± 20.5 | 47.8 | 0.996 | 0.983–0.999 | 0.989 | 0.971–0.996 | 0.954 | 0.907–0.977 |
| Digestive disorders | 257 | 51.1 ± 21.4 | 53.7 | 0.968 | 0.936–0.984 | 0.896 | 0.841–0.933 | 0.818 | 0.720–0.884 |
| 1infectious and parasitic diseases | 13 | 47.2 ± 19.7 | 53.8 | 1.000 | – | 0.909 | 0.508–0.987 | 0.909 | 0.508–0.987 |
| Total | 23,671 | 44.3 ± 25.0 | 46.0 | 0.973 | 0.971–0.975 | 0.888 | 0.884–0.893 | 0.808 | 0.801–0.815 |
Bold is provided for total rare disease survival results
aOnly cases diagnosed beyond 1 month. The total number of cases shown in the table does not refer to the sum of cases for each nosological group. Survival estimates of neonatal morbidities of perinatal origin not shown as only 6 cases were reported. 95% CI 95% confidence interval