This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Turner's syndrome
Q17_TURNE_SYNDR
No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
116 |
4. Check minimum number of eventsNone |
116 |
5. Include endpointsNone |
116 |
6. Filter based on genotype QC (FinnGen only) |
43 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q9
- Name in latin
- Syndroma Turner
Similar endpoints
↥List of similar endpoints to
Turner's syndrome
based on the number of shared cases.
Similar with more cases:
- Chromosomal abnormalities, not elsewhere classified
- Exclusions for E4_PCOS_BROAD
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- Exclusions for E4_PCOS_CONSORTIUM
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1030 | 965 | 61 |
| Only index persons | 909 | 853 | 56 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.00 |
| Only index persons | 0.03 | 0.03 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 15.85 | 16.16 | 9.17 |
| Only index persons | 17.47 | 18.00 | 9.51 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 43 | 38 | 5 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | 27.38 | 30.56 | 3.21 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
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
- 94
- Matched controls
- 940
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q96.0
ICD-10 Finland
Karyotype 45,X
+∞
53.3
46
*
Q96.9
ICD-10 Finland
Turner syndrome, unspecified
+∞
43.1
38
*
121
Kela drug reimbursment
Severe hypofunction of sexual glands
108.9
37.6
39
6
Q96.3
ICD-10 Finland
Mosaicism, 45,X/46,XX or XY
+∞
33.3
30
*
H01AC01
ATC
somatropin; parenteral
103.1
27.6
29
*
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
9.5
26.1
44
80
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
10.8
25.7
35
49
Z31.5
ICD-10 Finland
Genetic counselling
10.2
25.5
37
56
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
11.2
23.1
29
36
Q96.8
ICD-10 Finland
Other variants of Turner syndrome
+∞
22.8
21
*
Q96
ICD-10 Finland
Turner syndrome
+∞
20.6
19
*
Q96.4
ICD-10 Finland
Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
+∞
17.2
16
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
6.6
16.3
34
74
301
Kela drug reimbursment
Growth hormone
94.9
15.1
16
*
7586A
ICD-9 Finland
Chromosomal anomalies, Gonadal dysgenesis
+∞
13.9
13
*
E28.3
ICD-10 Finland
Primary ovarian failure
162.5
13.8
14
*
101
Kela drug reimbursment
Anterior pituitary hypofunction
47.5
13.6
16
*
I35.1
ICD-10 Finland
Aortic (valve) insufficiency
44.0
12.6
15
*
G03FB08
ATC
dydrogesterone and estrogen; systemic
11.1
12.5
24
28
LC2AE
NOMESCO Finland
Ultrasound examination of uterus and parametria
5.0
11.8
33
91
Q23.11
ICD-10 Finland
Bicuspid aortic valve
32.4
11.1
14
5
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
9.5
11.0
23
31
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
10.5
10.8
21
25
Q96.2
ICD-10 Finland
Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
+∞
10.6
10
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
17.2
10.4
16
11
DFF00
NOMESCO Finland
Pure tone audiometry
6.4
10.1
19
36
G03FB06
ATC
medroxyprogesterone and estrogen; systemic
16.5
8.5
13
9
G03DB01
ATC
dydrogesterone; oral
3.7
7.2
28
96
I71.2
ICD-10 Finland
Thoracic aortic aneurysm, without mention of rupture
43.3
6.9
8
*
G03CA03
ATC
estradiol; nasal, systemic, rectal, transdermal, vaginal
3.1
6.6
47
232
I71.9
ICD-10 Finland
Aortic aneurysm of unspecified site, without mention of rupture
+∞
6.3
6
*
G03FB05
ATC
norethisterone and estrogen; systemic
5.9
6.3
17
34
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
22
41
6.70
12.01
3.2
1.7
6.49
11.39
u/l
0.77
16
33
33
109
4.12
9.13
2.2
4.5
462.77
395.12
ng/l
0.10
26
88
55
313
2.83
5.70
2.1
1.5
0.62
1.77
u/ml
1.18
16
75
58
374
2.44
4.19
3.7
2.6
65.42
71.76
nmol/l
1.32
58
347
9
30
3.21
2.21
9.2
19.8
0.53
0.63
%
—
9
30
9
31
3.10
2.14
9.2
19.4
1.23
0.99
%
—
9
31
36
239
1.82
1.99
2.3
2.4
2.34
2.37
mmol/l
0.69
36
223
19
101
2.10
1.98
1.5
1.3
158.57
134.05
u/ml
—
7
48
23
138
1.88
1.72
4.3
3.5
7.94
14.55
mg/mmol
0.42
14
88
5
14
3.71
1.63
1.0
1.9
—
—
—
0
0
19
111
1.89
1.53
1.8
2.3
2590.39
7345.67
u/l
—
8
39
24
346
0.59
1.41
1.4
1.8
—
—
—
0
0
41
309
1.58
1.33
2.0
1.7
1.35
1.28
mmol/l
0.19
35
282
8
36
2.33
1.28
7.9
2.5
145.00
165.47
%
—
8
36
0
33
0.00
1.19
0.0
1.2
—
—
—
0
0
17
106
1.74
1.12
2.9
2.0
2.42
2.40
mmol/l
0.23
17
95
10
54
1.95
1.01
1.8
2.7
—
—
—
0
0
15
96
1.67
0.91
1.5
2.1
—
—
—
0
0
11
64
1.81
0.90
1.5
1.9
—
—
—
0
0
83
765
1.73
0.89
15.7
14.8
13.35
13.22
%
0.52
83
759
17
114
1.60
0.87
2.5
3.1
1222.58
499.02
ng/l
0.38
12
51
70
765
0.67
0.86
4.0
4.1
—
—
—
0
0
15
98
1.63
0.85
1.3
3.9
4.10
5.30
umol/l
—
10
87
42
343
1.41
0.84
8.4
8.4
1.22
1.22
mmol/l
0.13
35
306
27
203
1.46
0.84
2.0
2.4
—
—
—
0
0
20
272
0.66
0.83
2.8
2.2
—
—
—
0
0
11
66
1.76
0.83
2.2
2.8
233.82
224.79
u/l
0.22
11
66
5
26
1.97
0.72
1.8
1.7
—
—
—
0
0
14
94
1.57
0.71
3.6
2.9
30.85
28.93
s
1.01
14
94
23
295
0.71
0.69
2.7
2.4
—
—
—
0
0
7
43
1.68
0.68
4.0
3.2
95.86
99.14
%
—
7
43
5
28
1.83
0.67
1.8
1.8
14.12
4.58
ug/l
—
5
22
12
80
1.57
0.63
6.8
14.6
23.78
25.10
mmol/l
0.57
12
80
8
50
1.65
0.63
1.1
1.3
—
—
—
0
0
0
20
0.00
0.61
0.0
1.0
—
—
—
0
0
6
38
1.62
0.55
1.8
1.5
—
—
—
0
0
10
66
1.58
0.55
1.6
1.6
58.52
50.70
ug/l
—
10
66
6
39
1.57
0.54
1.2
1.1
1.42
1.64
g/l
—
6
39
11
75
1.53
0.53
5.9
11.0
106.45
105.40
mmol/l
0.32
11
75
6
40
1.53
0.52
1.2
1.1
0.96
0.86
g/l
—
6
40
46
518
0.78
0.52
5.9
9.1
3.88
3.78
e9/l
0.11
37
447
10
67
1.55
0.52
1.6
1.9
—
—
—
0
0
10
67
1.55
0.52
4.2
4.0
4.32
4.93
pmol/l
—
10
62
12
162
0.70
0.47
2.9
2.3
—
—
—
0
0
0
17
0.00
0.41
0.0
1.9
—
—
—
0
0
16
200
0.76
0.39
3.2
2.4
—
—
—
0
0
11
84
1.35
0.31
1.5
1.8
—
—
—
0
0
30
264
1.20
0.30
3.1
3.4
—
—
—
0
0
73
695
1.23
0.30
12.2
9.9
100.95
97.82
ml/min/173m2
0.66
67
620
9
75
1.22
0.26
1.8
1.9
—
—
—
0
0
75
778
0.82
0.25
14.0
12.0
139.41
139.69
mmol/l
0.56
75
760
25
221
1.18
0.23
3.1
3.0
0.06
0.20
e6/l
1.40
14
163
0
11
0.00
0.21
0.0
2.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
120.52
—
0
12
0
12
0.00
0.21
0.0
1.0
—
98.50
—
0
12
0
13
0.00
0.21
0.0
1.7
—
13.26
—
0
13
6
52
1.16
0.19
1.0
1.8
—
—
—
0
0
44
468
0.89
0.18
3.3
3.7
0.00
0.00
estimate
-0.00
12
96
32
347
0.88
0.18
3.1
3.2
0.00
0.01
estimate
0.49
12
86
44
467
0.89
0.17
3.5
3.7
0.21
0.00
estimate
0.47
14
96
87
852
1.28
0.15
10.6
9.8
37.87
22.99
u/l
2.29
87
834
44
463
0.91
0.14
3.3
3.7
0.00
0.00
estimate
-0.00
13
97
27
250
1.11
0.13
2.9
3.5
0.00
0.00
estimate
-0.00
12
95
20
182
1.13
0.12
1.8
2.7
18.84
16.85
ng/l
0.11
12
71
31
290
1.10
0.12
2.2
1.6
107.92
95.98
pmol/l
0.76
16
142
5
43
1.17
0.10
1.8
1.6
—
—
—
0
0
76
775
0.90
0.09
13.8
12.1
3.86
3.87
mmol/l
0.09
76
753
20
185
1.10
0.09
2.3
2.0
0.60
0.68
mg/l
0.27
14
132
5
61
0.81
0.08
4.4
3.9
—
—
—
0
0
5
62
0.80
0.08
6.2
10.2
3.40
1.00
mmol/l
—
5
44
14
127
1.12
0.08
2.8
2.9
5.98
4.24
e6/l
—
5
59
25
265
0.92
0.08
3.4
2.8
0.00
0.01
estimate
—
9
80
8
74
1.09
0.08
2.9
9.7
24.13
24.14
mmol/l
—
8
74
15
138
1.10
0.07
2.7
2.7
1.48
0.81
e6/l
—
6
71
19
179
1.08
0.05
1.6
2.3
334.37
541.07
u/l
0.23
19
174
25
261
0.94
0.04
1.8
1.6
—
—
—
0
0
13
124
1.06
0.01
2.2
1.9
3.36
3.24
ratio
—
8
96
43
425
1.02
0.00
2.7
2.9
—
—
estimate
—
0
0
83
834
0.96
0.00
10.9
12.3
23.43
19.89
mg/l
0.42
70
634
0
6
0.00
-0.00
0.0
3.2
—
11.57
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
74.00
—
0
6
0
8
0.00
-0.00
0.0
6.5
—
26.50
—
0
8
0
5
0.00
-0.00
0.0
1.6
—
—
—
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
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
45.20
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
0.28
—
0
8
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
83
0.96
-0.00
1.1
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
5.97
—
0
6
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.2
—
4.61
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
59.22
—
0
5
0
7
0.00
-0.00
0.0
1.1
—
107.57
—
0
7
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
7.74
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
85
847
1.04
-0.00
14.4
12.4
59.84
63.61
umol/l
1.47
85
833
0
6
0.00
-0.00
0.0
1.0
—
12.67
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_TURNE_SYNDR and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_TURNE_SYNDR | 4.191 [3.01, 5.84] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.156 |
During the follow-up period (1.1.1998 — 31.12.2019), 51 out of 862 females with Q17_TURNE_SYNDR died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have Q17_TURNE_SYNDR.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.364% | No data |
| 5 | 2.293% | No data |
| 10 | 5.834% | No data |
| 15 | 10.872% | No data |
| 20 | 18.565% | No data |
Relationships between endpoints
↥Index endpoint: Q17_TURNE_SYNDR – Turner's syndrome
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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