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
| 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 | ||
CUI concept unique identifiers