Congenital ptosis

Q17_CONGENITAL_PTOSIS

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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.

137

4. Check minimum number of events

None

137

5. Include endpoints

None

137

6. Filter based on genotype QC (FinnGen only)

125

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 125 66 59
Unadjusted period prevalence (%) 0.03 0.02 0.03
Median age at first event (years) 25.06 23.94 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
129
Matched controls
1290
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q10.0
ICD-10 Finland
Congenital ptosis
+∞
186.3
129
*
H02.4
ICD-10 Finland
Ptosis of eyelid
121.7
54.5
56
8
CBJ40
NOMESCO Finland
Resection of levator muscle of eyelid
500.3
38.1
36
*
CBJ10
NOMESCO Finland
Fascia plate sling or synthetic material for ptosis correction
+∞
25.9
24
*
74482
ICD-8 Finland
Congenital anomalies of eye, Ptosis
+∞
17.0
16
*
CBJ30
NOMESCO Finland
Plastic repair of levator aponeurosis of eyelid
+∞
13.8
13
*
XCK10
NOMESCO Finland
Photography of fundus of eye
5.7
11.2
23
47
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
3.3
9.9
60
270
3242
FHL
Levator resection
+∞
9.5
9
*
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
*
3743A
ICD-9 Finland
Other disorders of eyelids, Ptosis of eyelid[PTOSIS]
+∞
7.4
7
*
ZXD20
NOMESCO Finland
Day surgery
3.8
7.0
24
74
ZXA10
NOMESCO Finland
Bilateral
3.2
6.8
32
121
ZXD10
NOMESCO Finland
Scheduled procedure
2.6
6.1
55
291
ZXE10
NOMESCO Finland
More than one and less than three hours
2.6
6.0
50
255

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
26
116
2.55
3.97
1.3
1.7
901.71
1267.02
nmol/l
1.33
20
90
6
12
5.18
2.43
1.5
3.9
1.68
1.58
umol/l
—
6
12
6
16
3.88
1.96
1.3
2.6
23.00
22.69
%
—
6
16
6
16
3.88
1.96
1.3
2.6
13.67
19.13
%
—
6
16
6
16
3.88
1.96
1.3
3.2
71.50
64.75
%
—
6
16
6
16
3.88
1.96
1.3
3.1
9.50
8.25
%
—
6
16
25
146
1.88
1.96
2.5
2.4
20.07
24.44
%
1.01
25
140
5
12
4.29
1.84
3.6
4.0
3.70
3.44
ug/l
—
5
12
7
23
3.16
1.82
8.0
5.5
—
—
—
0
0
122
1126
2.54
1.82
15.5
11.5
—
—
—
0
0
100
860
1.72
1.80
4.1
3.9
14.91
14.68
pmol/l
0.39
91
793
51
373
1.61
1.80
2.3
1.8
100.88
95.89
pmol/l
0.26
29
196
23
136
1.84
1.73
1.7
1.6
—
—
—
0
0
42
298
1.61
1.66
2.5
2.4
2.37
2.56
mg/l
0.33
37
268
6
20
3.09
1.60
4.8
3.0
10.33
12.06
mu/l
—
6
20
27
172
1.72
1.60
2.4
2.4
13.00
14.02
umol/l
0.30
27
163
118
1087
2.00
1.40
15.6
14.0
26.20
23.00
mg/l
0.40
91
868
47
356
1.50
1.36
6.7
6.7
—
—
—
0
0
57
452
1.47
1.31
6.5
10.5
1.21
1.22
mmol/l
0.45
51
425
5
18
2.85
1.29
1.2
1.2
—
—
—
0
0
58
465
1.45
1.25
2.6
3.1
—
—
estimate
—
0
0
17
102
1.77
1.23
5.8
9.6
—
—
—
0
0
5
19
2.69
1.22
1.2
2.6
44.02
34.43
%
—
5
19
5
20
2.56
1.16
4.2
5.4
4.82
5.13
pmol/l
—
5
20
45
350
1.44
1.12
1.7
1.9
—
—
—
0
0
5
22
2.32
1.04
1.0
1.0
—
—
—
0
0
98
883
1.46
1.02
3.8
3.6
1.27
1.24
mmol/l
0.15
89
830
97
874
1.44
0.99
5.9
5.1
38.35
37.65
mmol/mol
0.31
90
827
104
950
1.49
0.98
4.9
4.6
2.83
2.67
mmol/l
1.25
95
898
34
257
1.44
0.97
7.4
4.6
—
—
—
0
0
48
387
1.38
0.95
8.5
10.4
1.10
1.18
inr
0.86
43
323
119
1123
1.77
0.93
17.3
15.7
67.18
70.88
umol/l
1.26
119
1110
16
103
1.63
0.93
1.3
1.5
—
—
—
0
0
13
79
1.72
0.92
1.8
1.8
—
—
—
0
0
103
944
1.45
0.91
4.4
4.2
4.61
4.52
mmol/l
0.45
94
894
8
43
1.92
0.89
1.6
2.0
—
—
—
0
0
59
497
1.34
0.88
6.4
10.4
1.21
1.22
mmol/l
0.49
51
440
47
383
1.36
0.86
9.8
8.1
—
—
—
0
0
6
31
1.98
0.85
1.8
3.5
135.83
132.44
g/l
—
6
25
107
992
1.46
0.84
5.4
4.8
1.83
1.86
mu/l
0.11
101
931
35
274
1.38
0.82
3.4
4.0
7.39
7.40
ph
0.36
19
189
39
311
1.36
0.82
2.3
3.6
22.09
24.88
ng/l
0.21
20
193
15
99
1.58
0.80
1.2
1.7
3.47
3.39
mmol/l
—
8
75
9
55
1.68
0.75
3.2
3.4
22.11
21.06
s
—
9
50
16
109
1.53
0.75
1.1
1.2
—
—
—
0
0
5
26
1.96
0.71
8.8
5.2
7.41
7.44
ph
—
5
26
17
119
1.49
0.71
1.8
1.4
—
—
—
0
0
7
42
1.70
0.69
1.0
2.0
—
—
—
0
0
7
42
1.70
0.69
1.0
1.1
1.40
1.45
g/l
—
7
42
32
254
1.35
0.69
1.6
1.6
17.36
22.30
nmol/l
1.40
27
222
7
43
1.66
0.68
1.0
1.2
0.91
0.83
g/l
—
7
43
100
929
1.34
0.66
5.0
4.1
5.83
5.69
mmol/l
0.36
94
864
101
943
1.33
0.62
4.5
4.1
1.36
1.42
mmol/l
0.90
94
888
0
22
0.00
0.60
0.0
1.0
—
1.36
—
0
22
61
539
1.25
0.58
10.7
7.6
8.90
8.36
%
0.85
61
518
83
761
1.25
0.56
7.8
8.0
80.05
88.07
u/l
0.98
83
727
18
235
0.73
0.56
1.9
1.8
—
—
—
0
0
62
551
1.24
0.55
10.5
7.2
57.24
53.67
%
1.72
62
538
6
38
1.61
0.55
1.2
1.2
—
22.87
—
0
7
14
100
1.45
0.54
6.6
9.7
23.86
24.20
mmol/l
0.38
14
100
9
62
1.48
0.54
1.2
1.2
—
—
—
0
0
18
136
1.38
0.52
1.2
1.2
—
—
—
0
0
22
172
1.34
0.52
5.0
3.2
34.22
416.49
ng/l
—
9
110
67
603
1.23
0.52
10.5
8.3
0.25
0.20
e9/l
0.80
62
522
60
534
1.23
0.52
10.8
7.6
0.60
0.62
%
0.16
60
511
17
128
1.38
0.51
1.2
1.6
—
—
—
0
0
73
665
1.23
0.50
12.3
11.2
4.22
4.12
e9/l
0.13
67
576
40
342
1.25
0.49
3.2
3.5
8.59
249.79
e6/l
0.69
33
261
17
129
1.37
0.49
7.0
15.0
24.91
25.12
mmol/l
0.11
17
129
60
537
1.22
0.48
10.8
7.5
2.73
2.85
%
0.16
60
514
22
176
1.30
0.45
1.4
1.3
1.12
6.54
u/ml
—
6
66
45
395
1.21
0.43
2.6
2.6
—
—
—
0
0
62
562
1.20
0.43
10.7
7.3
27.67
31.49
%
2.11
62
543
0
15
0.00
0.41
0.0
1.4
—
—
—
0
0
0
15
0.00
0.41
0.0
1.4
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
171.25
—
0
16
5
34
1.49
0.41
1.8
1.2
—
—
—
0
0
8
61
1.33
0.40
11.3
17.0
0.73
0.62
%
—
8
61
38
334
1.20
0.36
2.7
2.8
—
—
—
0
0
66
609
1.17
0.35
10.1
7.8
2.11
2.18
e9/l
0.22
61
537
18
146
1.27
0.34
2.6
1.9
—
—
—
0
0
6
45
1.35
0.34
1.3
1.8
—
—
—
0
0
45
405
1.17
0.32
4.0
4.3
18.76
61.25
e6/l
1.08
36
273
32
282
1.18
0.29
4.0
2.6
—
—
—
0
0
33
292
1.17
0.29
2.9
3.0
—
—
estimate
—
0
0
29
329
0.85
0.29
1.7
1.6
1.96
2.08
g/l
0.16
18
191
8
63
1.29
0.28
11.3
16.6
1.78
1.28
%
—
8
63
5
40
1.26
0.22
1.0
1.2
—
—
—
0
0
5
42
1.20
0.21
1.0
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
254.21
—
0
10
33
299
1.14
0.21
3.0
3.1
1.10
0.41
e6/l
0.32
26
219
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
22
194
1.16
0.20
1.5
1.3
13.54
30.16
iu/ml
—
10
52
6
50
1.21
0.20
1.0
1.1
—
—
—
0
0
10
81
1.25
0.19
1.3
2.1
—
0.00
estimate
—
0
23
12
100
1.22
0.19
8.9
12.4
7.39
7.42
ph
—
6
54
39
361
1.12
0.18
1.4
1.6
—
—
—
0
0
8
70
1.15
0.16
1.3
1.6
—
—
—
0
0
15
130
1.17
0.16
9.3
12.5
105.80
104.74
mmol/l
0.55
15
130
12
102
1.19
0.16
9.1
12.1
13.49
13.40
kpa
0.02
12
97
12
102
1.19
0.16
9.1
12.1
5.87
5.22
kpa
1.62
12
97
7
87
0.79
0.15
1.7
1.8
0.85
1.12
g/l
—
7
82
25
273
0.90
0.14
5.0
6.0
—
—
—
0
0
13
113
1.17
0.13
1.2
1.3
—
—
—
0
0
32
298
1.10
0.13
1.5
1.8
—
—
—
0
0
36
381
0.92
0.11
1.8
2.3
—
—
—
0
0
18
164
1.11
0.10
2.5
3.4
3.71
3.88
e6/l
—
10
86
6
56
1.07
0.09
1.3
1.2
—
—
—
0
0
30
317
0.93
0.08
3.3
3.9
0.00
0.00
estimate
—
8
113
31
327
0.93
0.08
3.7
2.9
0.00
0.00
estimate
—
9
95
7
63
1.12
0.08
1.4
1.1
—
—
—
0
0
7
67
1.05
0.08
8.6
13.4
1.11
1.16
mg/l
—
7
61
7
67
1.05
0.08
1.0
1.0
—
—
—
0
0
7
80
0.87
0.07
3.1
3.1
—
—
—
0
0
9
84
1.08
0.07
1.8
2.0
—
—
—
0
0
11
122
0.89
0.07
2.2
1.6
—
—
—
0
0
11
122
0.89
0.07
2.2
1.6
—
—
—
0
0
11
122
0.89
0.07
2.2
1.7
—
—
—
0
0
11
122
0.89
0.07
2.2
1.6
—
—
—
0
0
9
102
0.87
0.06
2.3
8.4
23.31
23.49
mmol/l
—
9
102
43
445
0.95
0.06
3.7
3.3
0.00
0.01
estimate
—
8
101
24
227
1.07
0.06
2.2
2.4
1.45
0.82
mg/l
0.54
15
182
12
128
0.93
0.03
1.3
1.3
—
—
—
0
0
24
233
1.04
0.01
1.5
2.0
—
—
—
0
0
35
357
0.97
0.01
1.5
1.5
0.44
3.02
u/ml
—
7
78
56
553
1.02
0.01
13.0
12.1
0.00
0.00
e9/l
0.41
44
445
22
214
1.03
0.00
1.3
1.6
—
—
—
0
0
58
586
0.98
0.00
3.7
3.6
0.00
0.00
estimate
-0.00
11
123
58
586
0.98
0.00
3.8
3.6
0.00
0.00
estimate
—
9
116
11
114
0.96
0.00
2.2
1.6
—
—
—
0
0
11
109
1.01
0.00
2.1
4.0
0.18
0.22
g/l
0.71
11
103
13
129
1.01
0.00
8.5
11.5
—
—
—
0
0
13
127
1.03
0.00
2.5
2.8
0.73
0.71
ug/l
—
6
76
24
243
0.98
0.00
3.7
3.3
56.25
95.33
mg/l
0.42
15
157
10
98
1.02
0.00
1.6
1.4
—
—
—
0
0
24
245
0.97
0.00
4.5
4.0
11.07
88.20
mg/mmol
0.54
16
154
58
581
1.00
0.00
3.5
3.5
0.00
0.00
estimate
-0.00
11
121
28
276
1.02
0.00
4.5
3.3
1.02
1.02
kg/l
0.40
22
175
0
9
0.00
0.00
0.0
6.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
164.86
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
87
0.91
-0.00
4.0
3.1
3.53
0.19
e6/l
—
8
82
0
6
0.00
-0.00
0.0
2.7
—
68.17
—
0
6
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
9
91
0.99
-0.00
2.1
4.0
67.22
67.90
e9/l
—
9
64
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.0
—
0.57
—
0
7
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
8.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.0
—
5.27
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
162.50
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
25.12
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
48
480
1.00
-0.00
3.2
2.9
6.33
6.18
ph
0.38
24
257
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
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
53.55
—
0
8
9
90
1.00
-0.00
2.3
2.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.0
—
100.00
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
52
0.96
-0.00
1.6
3.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
9
97
0.92
-0.00
2.2
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
87.83
—
0
6
0
6
0.00
-0.00
0.0
2.2
—
8.98
—
0
6
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
98.92
—
0
5
0
8
0.00
-0.00
0.0
1.3
—
0.00
—
0
8
9
89
1.01
-0.00
3.0
3.8
—
—
—
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).