No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
75 |
4. Check minimum number of eventsNone |
75 |
5. Include endpointsNone |
75 |
6. Filter based on genotype QC (FinnGen only) |
69 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Tuberous sclerosis 1
based on the number of shared cases.
Similar with more cases:
- Phakomatoses, not elsewhere classified
- Other congenital malformations
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 69 | 45 | 24 |
| Unadjusted period prevalence (%) | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | 28.85 | 31.67 | 23.57 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
No data
CodeWAS
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 75
- Matched controls
- 750
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q85.1
ICD-10 Finland
Tuberous sclerosis
+∞
107.8
75
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
37.8
53.8
40
22
Z31.5
ICD-10 Finland
Genetic counselling
27.1
44.0
37
26
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
19.8
38.8
41
43
Q85.00
ICD-10 Finland
Neurofibromatosis, type 1
+∞
32.7
29
*
Q85.01
ICD-10 Finland
Neurofibromatosis, type 2
+∞
26.6
24
*
Q85.09
ICD-10 Finland
Unspecified neurofibromatosis
+∞
23.1
21
*
N03AG01
ATC
valproic acid; systemic, rectal
20.3
17.8
27
20
N03AF02
ATC
oxcarbazepine; oral
26.4
17.5
24
13
Z01.0
ICD-10 Finland
Examination of eyes and vision
7.4
16.8
36
83
183
Kela drug reimbursment
Lamotrigin and topiramate
49.9
16.3
19
5
Q85.0
ICD-10 Finland
Neurofibromatosis (nonmalignant)
+∞
16.2
15
*
G40.9
ICD-10 Finland
Epilepsy, unspecified
31.6
16.2
21
9
G40.29
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
35.6
15.2
19
7
N03AG04
ATC
vigabatrin; oral
+∞
14.0
13
*
181
Kela drug reimbursment
Retigabine and vigabatrin
+∞
14.0
13
*
G40.22
ICD-10 Finland
Complex partial epileptic seizure with secondary generalization
35.9
13.7
17
6
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
17.7
13.5
21
16
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
17.9
11.1
17
12
G40.20
ICD-10 Finland
Complex partial seizures with only alteration of consciousness
38.7
10.7
13
*
N05BA09
ATC
clobazam; oral
38.7
10.7
13
*
D41.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Kidney
127.0
10.7
11
*
D30.0
ICD-10 Finland
Benign neoplasm: Kidney
127.0
10.7
11
*
ZXC10
NOMESCO Finland
Use of laser
28.2
10.7
14
6
D32.00
ICD-10 Finland
Benign tumor of the meninges on the outer surface of the cerebrum
+∞
10.7
10
*
N03AX09
ATC
lamotrigine; oral
11.4
10.6
20
23
N05CD08
ATC
midazolam; nasal, systemic
24.1
10.2
14
7
N05BA01
ATC
diazepam; systemic, rectal
6.5
10.2
20
40
N03AX14
ATC
levetiracetam; systemic
14.3
10.2
17
15
D33.30
ICD-10 Finland
Acoustic neuroma
63.5
9.9
11
*
XCK00
NOMESCO Finland
Perimetry
16.7
9.7
15
11
N03AF01
ATC
carbamazepine; oral, rectal
18.7
9.5
14
9
G40.10
ICD-10 Finland
Simple partial seizures
42.3
9.3
11
*
ZXE10
NOMESCO Finland
More than one and less than three hours
4.3
8.9
39
152
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
100.9
8.6
9
*
N03AX11
ATC
topiramate; oral
17.1
8.6
13
9
KA1AE
NOMESCO Finland
Kidney ultrasound examination
20.0
8.4
12
7
QAE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in head or neck
12.9
8.2
14
13
AA1AD
NOMESCO Finland
CT of head and brain
4.6
8.1
24
69
XA800
NOMESCO Finland
Neuropsychological investigation
7.6
8.1
19
32
WX002
NOMESCO Finland
Sedation and analgesia
4.9
7.9
21
55
340
Kela drug reimbursment
Everolimus
+∞
7.4
7
*
7595A
ICD-9 Finland
Other and unspecified congenital anomalies, Tuberous sclerosis
+∞
7.4
7
*
QAA25
NOMESCO Finland
Destruction of lesion of head or neck
33.6
7.3
9
*
G40.19
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with simple partial seizures
33.6
7.3
9
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.9
7.2
30
110
QDE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in lower limb
15.8
7.1
11
8
ZXD10
NOMESCO Finland
Scheduled procedure
3.6
7.1
40
179
ZXE20
NOMESCO Finland
More than three and less than five hours
5.1
7.0
17
41
QXA25
NOMESCO Finland
Destruction of lesion of skin, site unspecified
25.2
6.8
9
*
R56.8
ICD-10 Finland
Other and unspecified convulsions
7.2
6.8
16
27
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
7.9
6.8
15
23
D23.3
ICD-10 Finland
Benign neoplasm: Skin of other and unspecified parts of face
76.0
6.5
7
*
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
76.0
6.5
7
*
ZXC07
NOMESCO Finland
Carbon dioxide laser
76.0
6.5
7
*
AAB00
NOMESCO Finland
Extirpation of intracranial lesion
20.1
6.4
9
5
AA1CM
NOMESCO Finland
Extensive MRI examination of brain with 3 Tesla magnet
20.1
6.4
9
5
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
4.4
6.4
19
54
D37.7
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Other digestive organs
29.4
6.4
8
*
ZXC12
NOMESCO Finland
Pulse colorlaser
+∞
6.3
6
*
2377A
ICD-9 Finland
Neoplasm of uncertain behaviour of endocrine glands and nervous system, Neurofibromatosis
+∞
6.3
6
*
Q85.9
ICD-10 Finland
Phakomatosis, unspecified
+∞
6.3
6
*
G40.12
ICD-10 Finland
Simple partial seizures with secondary generalization
14.2
6.3
10
8
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
9.3
6.1
12
15
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
42
181
4.00
8.15
5.2
6.9
37.73
37.31
g/l
0.20
37
176
42
197
3.57
6.89
4.5
3.8
—
—
—
0
0
48
253
3.49
6.39
12.0
10.3
1.22
1.23
mmol/l
0.24
43
221
20
63
3.97
5.83
5.5
17.5
23.22
24.75
mmol/l
1.59
20
63
24
91
3.41
5.29
3.4
3.1
2.29
2.27
e6/l
0.00
16
53
8
7
12.59
4.91
2.1
1.6
0.57
0.50
nmol/l
—
8
7
24
99
3.09
4.55
3.3
2.9
0.81
0.88
e6/l
0.04
18
62
14
41
3.97
4.43
3.8
2.9
—
—
—
0
0
14
37
4.41
4.17
5.4
7.9
0.21
1.64
mmol/l
—
9
30
34
181
2.61
3.93
4.9
7.5
0.97
1.23
inr
2.74
13
57
20
84
2.88
3.61
2.6
11.5
29.70
30.64
s
0.32
20
84
12
35
3.88
3.29
2.1
1.4
90.67
64.83
ml/min/173m2
—
6
12
69
586
3.22
2.40
21.4
12.7
139.22
139.70
mmol/l
0.60
69
572
42
287
2.05
2.38
4.0
3.6
0.00
0.00
estimate
—
9
57
16
74
2.48
2.35
2.9
11.9
0.83
0.81
mmol/l
0.23
16
69
44
307
2.05
2.34
5.5
6.2
5.85
6.38
mmol/l
1.44
44
280
26
151
2.10
2.26
2.5
3.4
14.86
43.45
ng/l
0.90
14
87
63
510
2.47
2.21
13.4
8.8
95.14
95.00
ml/min/173m2
0.01
56
400
42
293
1.99
2.19
5.7
5.0
0.00
0.00
estimate
—
10
58
42
297
1.94
2.07
4.0
3.5
0.00
0.00
estimate
—
10
53
68
586
2.72
1.98
21.1
12.7
3.99
3.93
mmol/l
0.92
68
571
6
16
3.98
1.97
5.8
11.3
23.67
24.50
mmol/l
—
6
16
5
11
4.78
1.97
2.4
4.1
56.80
55.27
%
—
5
11
7
23
3.25
1.85
7.4
10.0
1.09
1.10
%
—
7
23
7
23
3.25
1.85
7.4
10.0
0.49
0.70
%
—
7
23
5
13
4.04
1.74
3.4
3.5
21.56
25.99
mmol/l
—
5
13
7
27
2.75
1.55
1.0
1.4
—
—
—
0
0
35
254
1.71
1.43
2.9
3.1
—
—
—
0
0
0
37
0.00
1.39
0.0
1.5
—
—
—
0
0
5
17
3.07
1.38
2.0
1.4
—
—
—
0
0
5
17
3.07
1.38
7.8
5.6
53.34
61.48
%
—
5
17
65
568
2.08
1.33
16.8
15.9
13.78
13.98
%
0.17
65
560
22
144
1.75
1.28
4.0
4.1
0.00
0.00
estimate
—
10
56
70
640
2.40
1.26
18.2
11.8
74.33
68.60
umol/l
0.36
70
640
68
618
2.07
1.12
16.7
12.4
17.35
20.58
mg/l
0.65
60
437
19
124
1.71
1.11
2.8
3.4
—
—
—
0
0
10
53
2.02
1.07
7.7
9.9
107.70
103.91
mmol/l
—
10
53
11
61
1.94
1.05
6.5
9.5
0.95
1.03
mmol/l
—
6
46
9
49
1.95
1.03
1.3
1.2
—
—
—
0
0
0
29
0.00
1.00
0.0
1.5
—
—
—
0
0
45
374
1.51
0.92
9.0
13.3
4.04
3.72
e9/l
0.40
40
324
6
29
2.16
0.91
2.0
1.7
—
—
—
0
0
8
43
1.96
0.91
1.1
2.3
—
281.59
u/l
—
0
11
10
58
1.84
0.84
4.4
12.7
23.82
23.68
mmol/l
—
10
58
22
160
1.53
0.83
2.2
1.5
97.95
101.20
pmol/l
0.13
12
79
0
25
0.00
0.80
0.0
2.2
—
3.04
—
0
15
11
67
1.75
0.80
1.6
4.7
7.40
284.19
ng/l
—
5
37
0
26
0.00
0.80
0.0
1.4
—
—
—
0
0
0
26
0.00
0.80
0.0
1.4
—
—
—
0
0
0
26
0.00
0.80
0.0
1.4
—
—
—
0
0
6
107
0.52
0.80
1.3
1.3
—
30.97
—
0
36
9
58
1.63
0.73
1.4
2.7
17.11
28.90
u/l
—
9
50
0
21
0.00
0.61
0.0
2.3
—
—
—
0
0
26
210
1.36
0.56
4.1
3.6
—
—
—
0
0
8
58
1.42
0.43
10.0
6.7
—
—
—
0
0
0
15
0.00
0.41
0.0
4.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.3
—
15.95
—
0
6
7
54
1.33
0.31
1.6
8.5
233.71
235.24
u/l
—
7
54
7
55
1.30
0.31
8.6
9.7
23.53
24.15
mmol/l
—
7
55
0
11
0.00
0.21
0.0
1.7
—
8.27
—
0
11
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.7
—
—
—
0
0
7
59
1.21
0.18
1.7
1.5
—
—
—
0
0
56
572
0.92
0.06
3.9
3.5
—
—
—
0
0
16
152
1.07
0.02
1.1
2.2
—
—
—
0
0
22
212
1.05
0.02
1.8
1.6
—
—
—
0
0
12
117
1.03
0.00
1.8
1.5
—
—
—
0
0
17
166
1.03
0.00
1.1
2.3
—
—
—
0
0
8
80
1.00
-0.00
1.9
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
691.33
—
0
6
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
9.25
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
13.42
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
0.28
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
108.20
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
13.00
—
0
5
5
59
0.84
-0.00
1.6
1.6
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
0
5
0.00
-0.00
0.0
1.0
—
137.40
—
0
5
0
6
0.00
-0.00
0.0
3.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_TUBEROUS_SCLEROSIS – Tuberous sclerosis 1
GWS hits: 1
This endpoint is excluded (different definition than used in FinnGen).