Congenital ptosis

Q17_CONGENITAL_PTOSIS

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q10.0
  • Cause of death: ICD-10 Q10.0

2 out of 7 registries used, show all original rules.

125

4. Check minimum number of events

None

125

5. Include endpoints

None

125

6. Filter based on genotype QC (FinnGen only)

121

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 121 62 59
Unadjusted period prevalence (%) 0.02 0.02 0.03
Median age at first event (years) 24.54 22.85 26.32

-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
125
Matched controls
1250
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q10.0
ICD-10 Finland
Congenital ptosis
+∞
180.5
125
*
H02.4
ICD-10 Finland
Ptosis of eyelid
116.9
52.3
54
8
CBJ40
NOMESCO Finland
Resection of levator muscle of eyelid
506.2
38.2
36
*
CBJ10
NOMESCO Finland
Fascia plate sling or synthetic material for ptosis correction
+∞
24.8
23
*
74482
ICD-8 Finland
Congenital anomalies of eye, Ptosis
+∞
17.1
16
*
CBJ30
NOMESCO Finland
Plastic repair of levator aponeurosis of eyelid
+∞
13.8
13
*
XCK10
NOMESCO Finland
Photography of fundus of eye
5.9
11.5
23
46
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
3.6
11.4
59
246
3242
FHL
Levator resection
+∞
8.4
8
*
7436B
ICD-9 Finland
Congenital anomalies of eyelids, lachrymal system and orbit[PTOSIS CONGENITA]
+∞
8.4
8
*
CBJ99
NOMESCO Finland
Other operation for ptosis
+∞
8.4
8
*
ZXD20
NOMESCO Finland
Day surgery
3.9
7.4
24
71
ZXD10
NOMESCO Finland
Scheduled procedure
2.6
6.4
54
280
3743A
ICD-9 Finland
Other disorders of eyelids, Ptosis of eyelid[PTOSIS]
+∞
6.3
6
*
ZXA10
NOMESCO Finland
Bilateral
3.1
6.1
30
116

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
24
112
2.41
3.33
1.4
1.7
954.68
1292.90
nmol/l
1.07
18
87
44
276
1.92
2.86
2.0
1.7
103.63
94.82
pmol/l
0.42
23
149
92
754
1.83
2.31
3.4
3.5
15.02
14.71
pmol/l
0.54
84
685
7
22
3.31
1.91
7.9
5.0
—
—
—
0
0
111
1001
1.97
1.61
14.1
12.2
27.91
22.36
mg/l
0.75
82
764
101
897
1.66
1.40
4.4
4.1
1.91
1.88
mu/l
0.08
95
826
16
92
1.85
1.32
6.0
10.2
—
—
—
0
0
5
18
2.85
1.29
4.6
2.9
8.80
12.27
mu/l
—
5
18
114
1056
1.90
1.22
14.4
10.5
—
—
—
0
0
15
88
1.80
1.17
1.1
1.2
—
—
—
0
0
10
51
2.04
1.15
3.1
2.0
—
—
—
0
0
7
32
2.26
1.10
2.1
2.2
—
—
—
0
0
18
115
1.66
1.07
1.8
1.5
—
—
—
0
0
49
397
1.39
0.95
6.5
10.0
1.22
1.22
mmol/l
0.36
43
373
7
37
1.94
0.95
1.7
1.9
—
—
—
0
0
85
754
1.40
0.94
5.3
4.6
38.87
38.17
mmol/mol
0.25
76
713
42
332
1.40
0.94
8.9
10.4
1.09
1.22
inr
1.15
15
108
35
271
1.40
0.88
7.2
6.8
—
—
—
0
0
92
836
1.38
0.82
4.3
3.6
5.76
5.70
mmol/l
0.13
86
768
11
66
1.73
0.81
1.5
1.8
—
—
—
0
0
13
194
0.63
0.79
2.2
1.7
—
—
—
0
0
29
222
1.40
0.78
8.2
4.5
—
—
—
0
0
9
54
1.72
0.76
1.2
1.2
—
—
—
0
0
34
270
1.36
0.73
2.3
3.5
22.82
26.11
ng/l
0.22
17
160
51
431
1.31
0.72
6.1
10.0
1.21
1.22
mmol/l
0.62
43
381
5
26
1.96
0.71
2.0
3.5
137.20
132.74
g/l
—
5
19
14
95
1.53
0.67
6.6
9.8
23.86
24.25
mmol/l
0.46
14
95
5
30
1.69
0.62
1.6
1.2
—
—
—
0
0
0
20
0.00
0.61
0.0
1.6
—
—
—
0
0
37
307
1.29
0.59
1.6
1.9
—
—
—
0
0
0
23
0.00
0.59
0.0
1.7
—
—
—
0
0
40
336
1.28
0.58
3.3
4.1
21.13
44.10
e6/l
0.77
31
231
34
280
1.29
0.57
3.0
3.3
8.39
289.82
e6/l
0.67
27
220
31
255
1.29
0.53
2.5
3.0
1.19
0.40
e6/l
0.34
24
195
30
246
1.29
0.52
2.9
2.6
—
—
—
0
0
14
101
1.43
0.52
1.7
1.4
—
—
—
0
0
16
119
1.40
0.51
1.3
1.2
—
—
—
0
0
7
45
1.59
0.50
3.9
3.8
23.14
21.95
s
—
7
40
19
147
1.34
0.49
1.3
1.3
1.12
4.00
u/ml
—
6
57
58
518
1.22
0.48
10.3
7.7
0.26
0.20
e9/l
0.95
53
451
23
283
0.77
0.48
1.5
1.5
1.69
1.96
g/l
0.48
11
159
7
48
1.49
0.47
12.0
15.5
0.70
0.68
%
—
7
48
7
48
1.49
0.47
12.0
15.5
1.80
1.40
%
—
7
48
14
103
1.40
0.47
1.1
1.6
—
—
—
0
0
20
157
1.33
0.47
1.3
1.3
14.49
33.51
iu/ml
—
9
44
16
121
1.37
0.47
2.7
1.9
—
—
—
0
0
31
259
1.26
0.47
2.4
2.9
—
—
—
0
0
74
681
1.21
0.44
7.4
7.0
79.93
87.04
u/l
0.76
74
645
119
1158
1.58
0.44
21.6
17.4
265.33
255.85
e9/l
0.99
114
1125
119
1159
1.56
0.44
22.0
18.0
39.96
40.37
%
0.27
109
1107
5
32
1.59
0.42
1.0
1.4
36.60
35.91
nmol/l
—
5
32
33
281
1.24
0.42
2.9
2.7
—
—
—
0
0
8
59
1.38
0.42
1.7
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
26.3
—
79.57
—
0
15
0
16
0.00
0.41
0.0
1.0
—
171.25
—
0
16
0
16
0.00
0.41
0.0
1.0
—
1.36
—
0
16
8
60
1.36
0.41
4.5
6.3
—
—
—
0
0
15
115
1.35
0.41
7.3
13.9
24.77
24.90
mmol/l
0.06
15
115
0
18
0.00
0.40
0.0
21.8
—
—
—
0
0
87
818
1.21
0.39
3.6
3.2
1.30
1.26
mmol/l
0.21
79
765
53
480
1.18
0.36
10.4
7.0
8.64
8.09
%
0.68
53
460
6
42
1.45
0.36
13.7
11.5
—
—
—
0
0
11
143
0.75
0.34
7.1
7.0
0.80
0.80
mmol/l
0.06
11
136
119
1161
1.52
0.34
21.6
17.4
7.22
6.91
e9/l
0.69
114
1125
119
1160
1.54
0.34
21.5
17.4
4.59
4.57
e12/l
0.17
114
1128
36
317
1.19
0.33
1.4
1.6
—
—
—
0
0
52
475
1.16
0.31
10.5
6.8
2.86
2.82
%
0.04
52
451
54
495
1.16
0.31
10.1
6.4
56.86
53.21
%
1.49
54
476
11
85
1.32
0.29
1.2
1.4
—
—
—
0
0
57
528
1.15
0.28
9.8
7.1
2.13
2.20
e9/l
0.16
52
466
90
861
1.16
0.27
4.2
3.8
2.91
2.71
mmol/l
1.41
82
804
54
501
1.14
0.25
10.3
6.7
27.90
31.84
%
1.91
54
481
67
631
1.13
0.25
4.6
4.0
—
—
—
0
0
89
855
1.14
0.23
3.9
3.5
4.71
4.54
mmol/l
0.78
81
802
5
40
1.26
0.22
1.2
1.8
—
—
—
0
0
63
594
1.12
0.22
12.5
10.2
4.13
4.16
e9/l
0.03
57
514
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
34.8
—
11.58
—
0
11
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
254.21
—
0
10
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
44
472
0.90
0.19
3.7
3.4
0.00
0.00
estimate
—
6
98
44
472
0.90
0.19
3.6
3.3
0.00
0.00
estimate
—
8
106
28
309
0.88
0.19
1.5
1.4
0.42
2.88
u/ml
—
5
65
6
52
1.16
0.19
1.3
1.2
—
—
—
0
0
24
267
0.87
0.18
3.7
3.6
0.00
0.00
estimate
—
7
95
23
205
1.15
0.18
2.9
3.8
—
—
—
0
0
36
389
0.90
0.18
3.2
2.9
—
5.65
—
0
30
44
469
0.90
0.17
5.0
4.5
0.00
0.00
estimate
—
8
101
17
149
1.16
0.16
5.1
3.2
36.75
474.86
ng/l
—
8
95
6
76
0.78
0.16
1.7
1.4
—
—
—
0
0
10
83
1.22
0.16
9.5
11.0
13.81
13.22
kpa
—
10
78
10
83
1.22
0.16
9.5
11.0
5.94
5.20
kpa
—
10
78
24
262
0.90
0.14
3.9
3.0
—
—
—
0
0
21
192
1.11
0.11
4.0
3.8
12.33
108.51
mg/mmol
0.52
15
121
22
202
1.11
0.11
2.4
2.4
1.58
0.79
mg/l
0.61
13
160
51
488
1.08
0.11
11.6
10.1
0.00
0.00
e9/l
0.49
41
392
87
850
1.08
0.10
4.0
3.5
1.38
1.42
mmol/l
0.38
81
794
27
252
1.09
0.10
1.4
1.7
—
—
—
0
0
24
224
1.09
0.09
2.8
3.3
—
—
—
0
0
20
185
1.10
0.09
3.2
3.2
70.07
110.48
mg/l
0.31
13
120
34
324
1.07
0.08
2.4
2.2
—
—
—
0
0
8
74
1.09
0.07
2.4
2.1
—
—
—
0
0
11
122
0.89
0.07
2.3
8.3
—
—
—
0
0
10
89
1.13
0.07
1.9
4.1
0.19
0.22
g/l
—
10
83
11
99
1.12
0.06
1.3
1.3
—
—
—
0
0
9
101
0.88
0.06
2.2
1.6
—
—
—
0
0
9
102
0.87
0.06
2.2
1.6
—
—
—
0
0
9
102
0.87
0.06
2.2
1.6
—
—
—
0
0
9
102
0.87
0.06
2.2
1.6
—
—
—
0
0
58
565
1.05
0.06
3.7
3.2
—
—
—
0
0
32
333
0.95
0.05
1.6
2.2
—
—
—
0
0
24
229
1.06
0.04
4.4
3.1
1.02
1.02
kg/l
—
6
27
70
707
0.98
0.01
4.2
3.8
10.75
9.40
mm/h
0.44
65
659
11
104
1.06
0.01
11.4
11.9
105.18
104.76
mmol/l
0.16
11
104
21
206
1.02
0.00
1.4
1.8
—
—
—
0
0
18
177
1.02
0.00
1.2
1.6
—
—
—
0
0
47
475
0.98
0.00
10.1
8.1
—
—
—
0
0
11
112
0.98
0.00
2.0
2.7
0.71
0.68
ug/l
—
6
69
12
122
0.98
0.00
1.3
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
1464.50
—
0
8
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
5
50
1.00
0.00
1.6
3.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
25.12
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
4.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
9
95
0.94
-0.00
2.2
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
87.83
—
0
6
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
7.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.7
—
0.16
—
0
7
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
11
110
1.00
-0.00
9.3
10.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
162.50
—
0
6
0
6
0.00
-0.00
0.0
2.7
—
68.17
—
0
6
8
85
0.94
-0.00
3.1
3.7
—
—
—
0
0
9
97
0.92
-0.00
1.6
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
8
81
0.99
-0.00
2.3
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
7
74
0.94
-0.00
2.3
3.9
70.86
68.10
e9/l
—
7
57
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
6
60
1.00
-0.00
1.3
1.7
—
—
—
0
0
7
79
0.88
-0.00
3.1
3.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
98.92
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
62
0.97
-0.00
1.0
1.0
—
—
—
0
0

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: Q17_CONGENITAL_PTOSIS – Congenital ptosis

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).