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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