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Table 2 Phenome-wide comparison of DS Cohort and FS Cohort

From: Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome

UMLS CUI code

Concept

DS individuals with the concept(%)

FS individuals with the concept (%)

DS individuals without the concept (%)

FS individuals without the concept (%)

OR

p value

C0751122

Dravet syndrome

36 (70.6)

0 (0)

15 (29.4)

53 (100)

129.60

0.00

C1419856

SCN1A

28 (54.9)

0 (0)

23 (45.1)

53 (100)

65.74

0.00

C1705236

Deviation

17 (33.3)

4 (7.5)

34 (66.7)

49 (92.5)

6.37

0.00

C0259972

Ketogenic diet

13 (25.5)

0 (0)

38 (74.5)

53 (100)

18.47

0.01

C0009952

Febrile seizures

21 (41.2)

37 (69.8)

30 (58.8)

16 (30.2)

0.34

0.01

C0235195

Sedation

13 (25.5)

4 (7.5)

38 (74.5)

49 (92.5)

4.36

0.02

C0027066

Myoclonia

11 (21.6)

3 (5.7)

40 (78.4)

50 (94.3)

4.77

0.02

C0004134

Ataxia

9 (17.6)

1 (1.9)

42 (82.4)

52 (98.1)

11.57

0.02

C0024115

Pneumonia

8 (15.7)

0 (0)

43 (84.3)

53 (100)

10.05

0.03

C0684320

Regression

8 (15.7)

0 (0)

43 (84.3)

53 (100)

10.05

0.03

C0234535

Clonic

17 (33.3)

9 (17)

34 (66.7)

44 (83)

2.56

0.05

C0085639

Fall

8 (15.7)

2 (3.8)

43 (84.3)

51 (96.2)

4.93

0.05

C3809175

Prolonged seizure

16 (31.4)

8 (15.1)

35 (29.6)

45 (84.9)

2.87

0.05

C0014544

Epilepsy

41 (80.4)

35 (66)

10 (19.6)

18 (34)

2.34

0.06

C0038220

Status epilepticus

15 (29.4)

8 (15.1)

36 (70.6)

45 (84.9)

2.45

0.07

C0424230

Psychomotor delay

6 (11.8)

0 (0)

45 (88.2)

53 (100)

7.20

0.07

C0549209

Startle

6 (11.8)

0 (0)

45 (88.2)

53 (100)

7.20

0.07

C0855324

Normal pulse pressure

2 (3.9)

8 (15.1)

49 (96.1)

52 (98.1)

0.24

0.08

C0026205

Myosis

7 (13.7)

2 (3.8)

44 (86.3)

51 (96.2)

4.22

0.08

C0036572

Seizures

47 (92.9)

44 (83)

4 (7.8)

9 (17)

2.94

0.08

C0271429

Acute otitis media

3 (5.9)

9 (17)

48 (94.1)

44 (83)

0.32

0.10

C0003123

Anorexia

5 (9.8)

0 (0)

46 (90.2)

53 (100)

5.87

0.11

C0013604

Edema

5 (9.8)

1 (1.9)

46 (90.2)

52 (98.1)

5.87

0.11

C0035203

Respiration

5 (9.8)

1 (1.9)

46 (90.2)

52 (98.1)

5.87

0.11

C0037763

Spasms

5 (9.8)

1 (1.9)

46 (90.2)

52 (98.1)

5.87

0.11

C0034150

Purpura

2 (3.9)

7 (13.2)

49 (96.1)

46 (86.8)

0.28

0.12

C0522336

Rolling of eyes

10 (19.6)

18 (34)

41 (80.4)

35 (66)

0.50

0.13

C0231218

Malaise

1 (2)

5 (9.4)

50 (98)

48 (90.6)

0.20

0.15

C0427008

Stiffness

1 (2)

5 (9.4)

50 (98)

48 (90.6)

0.20

0.15

C1336751

Flat

1 (2)

5 (9.4)

50 (98)

48 (90.6)

0.20

0.15

C3887612

Pyschomotor agitation

12 (23.5)

7 (13.2)

39 (76.5)

46 (86.8)

2.11

0.15

C0042963

Vomiting

3 (5.9)

8 (15.1)

48 (94.1)

45 (84.9)

0.37

0.16

C0036973

Shiverings

7 (13.7)

3 (5.7)

44 (86.3)

50 (94.3)

2.76

0.16

C0751495

Focal seizures

7 (13.7)

3 (5.7)

44 (86.3)

50 (94.3)

2.76

0.16

C2825055

Recurrence

21 (41.2)

30 (56.6)

30 (58.8)

23 (43.4)

0.58

0.17

C0013473

Eating disorders

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

C0018989

Hemiparesis

4 (7.8)

1 (1.9)

47 (92.9)

52 (98.1)

4.60

0.18

C0020649

Hypotension

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

C0032290

Aspiration Pneumonia

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

C0037036

Hypersalivation

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

C0038450

Stridor

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

C0205721

Nosocomial infection

4 (7.8)

1 (1.9)

47 (92.9)

52 (98.1)

4.60

0.18

C0333641

Atrophy

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

C0349506

Photosensitivity

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

C0428167

FiO2

4 (7.8)

1 (1.9)

47 (92.9)

52 (98.1)

4.60

0.18

C0865850

Acute respiratory insufficiency

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

C1504405

Pyramidal syndrome

4 (7.8)

0 (0)

47 (92.9)

53 (100)

4.60

0.18

  1. CUI concept unique identifiers