Table 2 Distribution of diagnoses of patients alive as of December 31, 2019, prevalence and mortality rates by Orphanet classification
From: Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Orphanet classification | % patients alive as of December 31, 2019 | Prevalence as of December 31, 2019 per 10,000 | Mortality rate year 2019 per 100,000 |
|---|---|---|---|
Rare neurologic diseases | 18.0 | 11.41 | 4.11 |
Rare systemic or rheumatologic diseases | 17.1 | 10.84 | 1.74 |
Rare hematologic diseases | 16.9 | 10.71 | 0.48 |
Rare developmental defects during embryogenesis | 15.8 | 10.00 | 0.26 |
Rare ophthalmic disorders | 6.1 | 3.90 | 0.22 |
Rare skin diseases | 5.2 | 3.28 | 0.79 |
Rare endocrine diseases | 3.9 | 2.48 | 0.06 |
Rare inborn errors of metabolism | 3.5 | 2.24 | 0.24 |
Rare gastroenterological diseases | 2.8 | 1.78 | 0.16 |
Rare immune diseases | 2.0 | 1.24 | 0.18 |
Rare bone diseases | 1.9 | 1.19 | 0.02 |
Rare maxillo-facial surgical diseases | 1.8 | 1.12 | 0.00 |
Rare respiratory diseases | 1.3 | 0.85 | 0.49 |
Rare hepatic diseases | 1.2 | 0.78 | 0.08 |
Rare renal diseases | 1.1 | 0.70 | 0.00 |
Rare urogenital diseases | 0.8 | 0.50 | 0.04 |
Rare abdominal surgical diseases | 0.3 | 0.18 | 0.00 |
Rare circulatory system diseases | 0.2 | 0.15 | 0.00 |
Rare otorhinolaryngologic diseases | 0.2 | 0.13 | 0.00 |
Rare infertility | 0.0 | 0.02 | 0.00 |
Total | 100 | 62.93 | 8.87 |