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Table 1 GED-C score parameters extracted from free-text notes from patient visits

From: Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data

 

GED-C parameters

Splenomegaly

Hepatomegaly

Gallstones

Pain

Bleeding

Fatigue

Growth retardation

Patients with GD, n (%) (n = 265)

128 (48.3)

48 (18.1)

19 (7.2)

133 (50.2)

58 (21.9)

75 (28.3)

12 (4.5)

Controls, n (%) (n = 265)a

2 (0.8)

6 (2.3)

4 (1.5)

58 (21.9)

24 (9.1)

21 (7.9)

1 (0.4)

OR (95% CI)

122.8 (30.0–504.0)

9.5 (4.0–22.7)

5 (1.7–15)

3.9 (2.7–5.7)

2.8 (1.7–4.7)

4.6 (2.7–7.7)

12.5 (1.6–97.0)

  1. GD Gaucher disease; GED-C Gaucher earlier diagnosis consensus, OR odds ratio
  2. aFree-text notes were screened manually in 1 control from the 13 controls available for each patient with GD (chosen randomly)