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Table 3 Comparison between concepts found in more than 10% individuals of DS Cohort who received the diagnosis/suspicion of DS before (left) and after (right) the age of 2 years

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 diag < 2 years

DS cohort diag > 2 years

Number of individuals

Frequency (%)

Number of individuals

Frequency (%)

C0751122

Dravet syndrome

36

100

  

C0036572

Seizures

36

100

11

79

C0015967

Fever

34

94

8

57

C0014544

Epilepsy

33

92

8

57

C0234972

Convulsions

26

72

5

36

C1419856

SCN1A

22

61

6

43

C0026827

Hypotonia

17

47

4

29

C2825055

Recurrence

17

47

4

29

C0009952

Febrile seizures

15

42

5

36

C3809175

Prolonged seizure

15

42

  

C0234535

Clonic

14

39

3

21

C0038220

Status epilepticus

13

36

2

14

C0596002

Reflex

13

36

2

14

C1705236

Deviation

12

33

5

36

C2830004

Drowsiness

12

33

4

29

C0259972

Ketogenic diet

11

31

2

14

C0235195

Sedation

11

31

2

14

C1698630

Virosis

11

31

  

C3887612

Psychomotor Agitation

10

28

2

14

C0009450

Infection

10

28

  

C0027066

Myoclonia

10

28

  

C0004134

Ataxia

9

25

  

C0030193

Pain

9

25

  

C0013144

Falling asleep

9

25

  

C0029877

Otitis

9

25

  

C0009443

Rhinitis

9

25

  

C0010200

Cough

9

25

  

C0424927

Education

8

22

  

C0522336

Rolling of eyes

8

22

2

14

C0020517

Allergies

7

19

  

C0006271

Bronchiolitis

7

19

2

14

C0015672

Fatigue

7

19

  

C0026837

Hypertonus

7

19

3

21

C0026205

Myosis

7

19

  

C0024115

Pneumonia

7

19

  

C0085639

Fall

6

17

  

C0494475

Tonic–clonic seizures

6

17

  

C0751495

Focal seizures

6

17

  

C0031350

Pharingitis

6

17

  

C0424230

Psychomotor delay

6

17

  

C0684320

Regression

6

17

2

14

C0549209

Startle

6

17

  

C0036973

Shiverings

6

17

  

C0003123

Anorexia

5

14

  

C0035561

Side

5

14

  

C0034642

Rales

5

14

  

C0013604

Edema

5

14

  

C0035203

Respiration

5

14

  

C0424230

Psychomotor delay

5

14

  

C0008049

Chickenpox

5

14

  

C0004093

Asthenia

4

11

  

C0270844

Tonic seizures

4

11

  

C0010520

Cyanosis

4

11

  

C0011991

Diarrhea

4

11

  

C0221725

Bronchial obstruction

4

11

  

C0017160

Gastroenteritis

4

11

  

C0021400

Flu

4

11

  

C0037036

Hypersalivation

4

11

  

C0042769

Viral infection

4

11

  

C0349506

Photosensitivity

4

11

  

C0032290

Aspiration pneumonia

4

11

  

C1272641

Arterial blood pressure

4

11

  

C0027441

Nasopharyngitis

4

11

2

14

C0037763

Spasms

4

11

  

C0038450

Stridor

4

11

  

C1504405

Pyramidal syndrome

4

11

  

C0018916

Angiome

  

2

14

C0085584

Encephalopathy

  

2

14

C0018989

Hemiparesis

  

2

14

C0018991

Hemiplegia

  

2

14

C0019209

Hepatomegaly

  

2

14

C0232483

Reflux

  

2

14

  1. CUI concept unique identifiers
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172