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Table 1 Comparison between concepts found in more than 10% of individuals of DS Cohort (left) and FS Cohort (right)

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 cohort

FS cohort

Number of  individuals

Frequency (%)

Number of individuals

Frequency (%)

C0036572

Seizures

48

94

44

83

C0015967

Fever

43

84

48

91

C0014544

Epilepsy

42

82

35

66

C0751122

Dravet syndrome

37

73

  

C0234972

Convulsions

31

61

40

75

C1419856

SCN1A

28

55

  

C0009952

Febrile seizures

21

41

37

70

C0026827

Hypotonia

21

41

19

36

C2825055

Recurrence

21

41

30

57

C0234535

Clonic

17

33

9

17

C1705236

Deviation

17

33

  

C3809175

Prolonged seizure

16

31

8

15

C2830004

Drowsiness

16

31

17

32

C0038220

Status epilepticus

15

29

8

15

C0259972

Ketogenic diet

13

25

  

C0235195

Sedation

13

25

  

C3887612

Psychomotor agitation

12

24

7

13

C0009450

Infection

12

24

9

17

C0027066

Myoclonia

11

22

  

C1698630

Virosis

11

22

11

21

C0030193

Pain

10

20

6

11

C0013144

Falling asleep

10

20

12

23

C0026837

Hypertonus

10

20

8

15

C0029877

Otitis

10

20

13

25

C0522336

Rolling of eyes

10

20

18

34

C0010200

Cough

10

20

9

17

C0004134

Ataxia

9

18

  

C0006271

Bronchiolitis

9

18

11

21

C0009443

Rhinitis

9

18

14

26

C0085639

Fall

8

16

  

C0424927

Education

8

16

  

C0024115

Pneumonia

8

16

  

C0684320

Regression

8

16

  

C0020517

Allergies

7

14

  

C0751495

Focal Seizures

7

14

  

C0015672

Fatigue

7

14

7

13

C0026205

Myosis

7

14

  

C0036973

Shiverings

7

14

  

C0035561

Side

6

12

  

C0031350

Pharingitis

6

12

8

15

C0424230

Psychomotor DELAY

6

12

  

C0027441

Nasopharyngitis

6

12

  

C0549209

Startle

6

12

  

C0003123

Anorexia

5

10

  

C0034642

Rales

5

10

  

C0270844

Tonic Seizures

5

10

6

11

C0010520

Cyanosis

5

10

9

17

C0011991

Diarrhea

5

10

  

C0017160

Gastroenteritis

5

10

  

C0019209

Hepatomegaly

5

10

  

C0013384

Movement disorder

5

10

  

C0013604

Edema

5

10

  

C0232483

Reflux

5

10

  

C0035203

Respiration

5

10

  

C0037763

Spasms

5

10

  

C1504405

Pyramidal syndrome

5

10

  

C0008049

Chickenpox

5

10

7

13

C0596002

Reflex

  

19

36

C0271429

Acute otitis media

  

9

17

C0855324

Normal pulse pressure

  

8

15

C0042963

Vomiting

  

8

15

C0034150

Purpura

  

7

13

C0494475

Tonic–clonic seizures

  

6

11

  1. CUI concept unique identifiers
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172