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Table 3 Rare disease in Hong Kong at a glance (2005–2016)

From: Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets

Orphanet classification Number of people (%) Mean (median) age Number of people <=18 years old (%) Estimated prevalence, as of 2016
Rare developmental defect during embryogenesis disease 33,731 (21.9) 21.4 (11.9) 23,835 (70.7) 457 per 100,000
Rare haematologic disease 24,615 (16.0) 51.8 (37) 3331 (13.5) 334 per 100,000
Rare neurologic disease 23,707 (15.4) 56.1 (57.7) 4507 (19.0) 321 per 100,000
Rare neoplastic disease 14,556 (9.4) 70.6 (61.0) 757 (5.2) 197 per 100,000
Rare endocrine disease 9923 (6.4) 48.9 (53.7) 2893 (29.2) 135 per 100,000
Rare systemic or rheumatologic disease 8678 (5.6) 42.0 (48.5) 3411 (39.3) 118 per 100,000
Rare otorhinolaryngologic disease 7726 (5.0) 54.4 (60.0) 2052 (26.6) 105 per 100,000
Rare cardiac disease 6581 (4.3) 63.9 (65.0) 300 (4.6) 89 per 100,000
Rare respiratory disease 4810 (3.1) 21.4 (10.5) 3739 (77.7) 65 per 100,000
Rare inborn errors of metabolism 4287 (2.8) 57.1 (44.6) 707 (16.5) 58 per 100,000
Rare eye disease 3303 (2.1) 22.6 (9.9) 2422 (73.3) 45 per 100,000
Rare skin disease 2646 (1.7) 68.1 (79.8) 220 (8.3) 36 per 100,000
Rare renal disease 2532 (1.6) 12.9 (8.7) 2230 (88.1) 34 per 100,000
Rare hepatic disease 2455 (1.6) 69.8 (71.0) 66 (2.7) 33 per 100,000
Rare gastroenterologic disease 2447 (1.6) 72.0 (78.8) 24 (1.0) 33 per 100,000
Rare bone disease 1191 (0.8) 39.9 (37.0) 408 (34.3) 16 per 100,000
Rare gynecologic or obstetric disease 653 (0.4) 48.5 (46.0) 2 (0.3) 9 per 100,000
Rare urogenital disease 119 (0.1) 39.3 (34.1) 27 (22.7) 2 per 100,000
Rare immune disease 78 (0.1) 30.2 (35.7) 45 (57.7) 1 per 100,000
Rare odontologic disease 32 (0.0) 40.4 (45.2) 11 (34.4) < 1 per 100,000
Rare abdominal surgical disease 5 (0.0) 56.1 (57.3) 0 (0.0) 1 per 1,000,000
Rare circulatory system disease 2 (0.0) 36.6 (36.6) 0 (0.0) < 1 per 1,000,000
Total 144,444