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Congenital ptosis

Q17_CONGENITAL_PTOSIS_WIDE

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:

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

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

145

4. Check minimum number of events

None

145

5. Include endpoints

None

145

6. Filter based on genotype QC (FinnGen only)

140

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze
DF13

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 140 73 67
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 27.89 25.34 30.66

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
145
Matched controls
1450
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q10.0
ICD-10 Finland
Congenital ptosis
+∞
209.6
145
*
H02.4
ICD-10 Finland
Ptosis of eyelid
97.1
51.8
55
9
CBJ40
NOMESCO Finland
Resection of levator muscle of eyelid
237.1
36.6
36
*
CBJ10
NOMESCO Finland
Fascia plate sling or synthetic material for ptosis correction
+∞
24.7
23
*
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
5.8
12.5
25
50
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
3.5
12.3
67
286
3242
FHL
Levator resection
+∞
9.5
9
*
ZXD20
NOMESCO Finland
Day surgery
4.0
8.9
28
81
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]
+∞
7.3
7
*
H02.3
ICD-10 Finland
Blepharochalasis
6.8
6.7
16
26

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
54
324
2.06
4.05
2.0
1.7
99.19
93.91
pmol/l
0.29
30
177
27
138
2.18
3.00
1.4
1.6
911.01
1259.31
nmol/l
1.32
21
108
109
884
1.94
2.98
3.7
3.6
14.84
14.71
pmol/l
0.20
101
807
8
19
4.39
2.72
3.3
3.2
14.80
11.84
mu/l
—
8
19
14
59
2.52
2.37
2.7
1.9
—
—
—
0
0
7
21
3.45
1.99
1.4
1.8
—
—
—
0
0
10
39
2.68
1.98
2.1
2.0
—
—
—
0
0
130
1172
2.06
1.91
12.9
12.4
26.18
22.08
mg/l
0.58
99
891
119
1052
1.73
1.76
4.6
4.2
1.91
1.86
mu/l
0.13
113
969
29
186
1.70
1.65
3.0
2.3
165.21
119.00
ug/g
0.19
24
143
7
26
2.78
1.60
7.9
4.5
—
—
—
0
0
133
1232
1.96
1.43
13.5
10.7
—
—
—
0
0
17
98
1.83
1.38
5.7
9.7
—
—
—
0
0
101
889
1.45
1.23
5.3
4.6
38.63
38.27
mmol/mol
0.14
91
838
25
171
1.56
1.12
1.2
1.3
1.04
5.82
u/ml
—
7
71
47
369
1.40
1.07
1.7
2.0
—
—
—
0
0
74
629
1.36
1.03
4.9
6.9
6.44
6.32
mmol/l
0.17
69
571
9
48
1.93
1.02
1.9
2.0
—
—
—
0
0
56
456
1.37
1.02
5.9
10.8
1.22
1.22
mmol/l
0.14
49
430
14
220
0.60
1.02
2.2
1.7
—
—
—
0
0
25
175
1.52
1.02
1.2
1.3
13.12
31.15
iu/ml
1.06
13
49
7
35
2.05
1.01
1.4
1.5
—
—
—
0
0
39
300
1.41
0.99
2.3
3.0
1.08
0.39
e6/l
0.38
30
229
20
135
1.56
0.95
1.8
1.6
—
—
—
0
0
49
395
1.36
0.94
3.0
3.9
21.60
39.24
e6/l
0.66
37
272
39
304
1.39
0.92
2.2
2.9
—
—
—
0
0
59
494
1.33
0.88
5.6
10.8
1.21
1.22
mmol/l
0.31
49
434
6
30
2.04
0.88
1.5
1.2
—
—
—
0
0
41
329
1.34
0.80
2.7
3.2
8.14
252.48
e6/l
0.69
32
258
17
116
1.53
0.78
1.1
1.3
—
—
—
0
0
69
598
1.29
0.78
9.3
7.7
0.27
0.19
e9/l
1.33
63
524
108
995
1.33
0.76
4.4
3.6
5.76
5.72
mmol/l
0.08
101
909
67
580
1.29
0.76
8.8
7.2
0.67
0.57
e9/l
1.34
62
504
5
24
2.12
0.75
1.0
1.0
—
—
—
0
0
67
581
1.28
0.75
8.8
7.1
0.04
0.04
e9/l
0.44
62
504
15
101
1.54
0.73
6.3
9.4
24.26
24.35
mmol/l
0.06
15
101
17
119
1.49
0.71
1.6
1.6
—
—
—
0
0
11
69
1.64
0.70
1.5
1.3
—
—
—
0
0
64
556
1.27
0.69
9.3
7.2
8.62
8.19
%
0.56
64
534
39
319
1.30
0.67
7.4
7.0
—
—
—
0
0
7
44
1.62
0.66
1.0
1.1
—
—
—
0
0
39
320
1.30
0.65
2.2
3.4
21.05
25.32
ng/l
0.36
20
192
63
550
1.26
0.65
9.3
6.9
3.04
2.77
%
0.35
63
523
47
398
1.27
0.62
9.8
10.3
1.09
1.20
inr
1.01
15
131
8
51
1.60
0.61
1.4
1.9
—
—
—
0
0
0
21
0.00
0.60
0.0
20.0
—
—
—
0
0
0
23
0.00
0.59
0.0
1.5
—
—
—
0
0
0
23
0.00
0.59
0.0
1.7
—
—
—
0
0
65
580
1.22
0.53
9.2
6.8
27.92
31.49
%
2.08
65
557
9
64
1.43
0.52
1.2
1.2
—
—
—
0
0
64
571
1.22
0.52
9.1
6.6
56.86
53.66
%
1.45
64
550
68
611
1.21
0.51
8.8
7.1
2.13
2.23
e9/l
0.24
62
542
138
1344
1.55
0.51
20.5
17.9
265.62
255.91
e9/l
1.14
133
1308
11
76
1.48
0.49
1.5
1.7
—
—
—
0
0
7
48
1.48
0.47
12.6
23.6
—
—
—
0
0
103
968
1.22
0.47
3.6
3.3
1.28
1.25
mmol/l
0.20
94
894
108
1021
1.23
0.45
4.2
3.8
2.89
2.70
mmol/l
1.54
99
947
81
749
1.18
0.42
4.3
4.0
—
—
—
0
0
107
1014
1.21
0.42
3.9
3.5
4.68
4.52
mmol/l
0.80
98
943
5
33
1.53
0.42
1.6
1.2
—
—
—
0
0
8
59
1.38
0.41
11.3
16.1
1.77
1.38
%
—
8
59
8
59
1.38
0.41
11.3
16.0
0.73
0.66
%
—
8
59
0
16
0.00
0.41
0.0
1.0
—
171.25
—
0
16
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
138
1348
1.49
0.41
20.6
17.9
7.19
6.93
e9/l
0.60
133
1309
138
1347
1.51
0.41
20.4
17.9
4.60
4.56
e12/l
0.55
133
1311
138
1346
1.52
0.41
20.8
18.5
40.37
40.33
%
0.02
128
1286
0
17
0.00
0.41
0.0
23.4
—
79.09
—
0
17
14
106
1.36
0.41
1.1
1.5
—
—
—
0
0
16
124
1.33
0.41
7.2
13.3
24.59
24.82
mmol/l
0.13
16
124
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
16
125
1.31
0.39
1.1
1.6
—
—
—
0
0
13
167
0.76
0.37
6.2
6.8
0.80
0.80
mmol/l
0.14
13
160
6
43
1.41
0.35
2.3
3.7
4.83
5.65
umol/l
—
6
35
30
259
1.20
0.33
8.0
4.7
—
—
—
0
0
11
83
1.35
0.33
1.2
1.3
—
—
—
0
0
17
139
1.25
0.30
1.2
1.2
—
—
—
0
0
7
55
1.29
0.30
3.9
3.4
23.14
21.86
s
—
7
50
74
693
1.14
0.29
11.5
10.2
4.14
4.14
e9/l
0.01
67
599
20
168
1.22
0.29
2.0
3.2
2.55
3.83
e6/l
0.48
11
94
27
235
1.18
0.28
4.7
4.7
1.89
1.92
ug/l
0.02
22
204
30
264
1.17
0.27
3.9
3.2
1.01
1.02
kg/l
—
6
33
9
74
1.23
0.26
4.1
6.0
—
—
—
0
0
12
97
1.26
0.23
8.5
16.5
5.77
5.17
kpa
1.27
12
92
12
97
1.26
0.23
8.5
16.5
13.03
12.98
kpa
0.01
12
92
7
93
0.74
0.23
3.1
3.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
32.0
—
11.63
—
0
12
37
338
1.13
0.21
2.7
2.6
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
239.62
—
0
13
11
133
0.81
0.20
2.3
8.0
—
—
—
0
0
32
290
1.13
0.20
2.8
2.6
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
104
1007
1.12
0.20
4.0
3.5
1.38
1.41
mmol/l
0.33
97
932
29
262
1.13
0.19
2.9
3.3
—
—
—
0
0
86
826
1.10
0.19
4.0
3.8
10.31
9.35
mm/h
0.34
80
771
7
60
1.17
0.18
1.3
1.2
—
—
—
0
0
30
328
0.89
0.17
1.4
1.5
1.70
2.07
g/l
0.87
14
186
10
120
0.82
0.17
1.7
2.0
—
—
—
0
0
37
397
0.91
0.15
1.6
2.2
—
—
—
0
0
15
131
1.16
0.15
1.8
2.9
0.81
0.68
ug/l
—
7
84
53
555
0.93
0.12
3.5
3.3
0.00
0.00
estimate
—
8
115
70
675
1.07
0.12
3.5
3.2
—
—
—
0
0
12
105
1.16
0.11
1.8
3.9
0.19
0.22
g/l
0.62
12
97
59
568
1.07
0.10
10.4
10.1
0.00
0.00
e9/l
0.49
47
462
5
43
1.17
0.10
1.0
1.2
—
—
—
0
0
53
551
0.94
0.10
4.6
4.4
0.00
0.00
estimate
—
10
120
26
243
1.09
0.09
2.2
2.3
1.30
0.92
mg/l
0.33
17
186
29
308
0.93
0.09
3.5
2.9
—
—
—
0
0
16
146
1.11
0.08
2.7
2.2
—
—
—
0
0
6
57
1.05
0.08
1.5
11.6
—
—
—
0
0
30
317
0.93
0.08
3.4
3.6
0.00
0.00
estimate
—
9
114
40
383
1.06
0.08
1.4
1.6
—
—
—
0
0
40
383
1.06
0.08
2.4
2.2
—
—
—
0
0
57
552
1.05
0.08
9.1
7.9
—
—
—
0
0
9
84
1.08
0.07
2.2
2.4
—
—
—
0
0
32
305
1.06
0.07
1.4
1.8
—
—
—
0
0
9
104
0.86
0.06
3.2
3.5
—
—
—
0
0
54
554
0.96
0.05
3.4
3.3
0.00
0.00
estimate
—
10
124
24
229
1.06
0.04
4.0
3.8
10.66
86.94
mg/mmol
0.52
18
152
37
361
1.03
0.02
1.4
1.4
0.40
2.85
u/ml
—
8
80
23
222
1.04
0.02
3.3
3.2
59.68
92.05
mg/l
0.31
16
153
10
93
1.08
0.02
2.0
1.9
—
—
—
0
0
24
247
0.97
0.01
2.9
3.7
—
—
—
0
0
22
214
1.03
0.00
1.3
1.6
—
—
—
0
0
24
246
0.97
0.00
1.5
1.8
—
—
—
0
0
11
114
0.96
0.00
2.0
1.8
—
—
—
0
0
11
114
0.96
0.00
2.0
1.8
—
—
—
0
0
11
114
0.96
0.00
2.0
1.8
—
—
—
0
0
12
119
1.01
0.00
10.9
12.4
105.75
104.76
mmol/l
0.41
12
119
12
119
1.01
0.00
9.0
11.4
—
—
—
0
0
18
181
0.99
0.00
4.9
3.2
33.33
438.27
ng/l
—
9
115
11
107
1.03
0.00
2.0
1.9
—
—
—
0
0
11
113
0.97
0.00
2.0
1.8
—
—
—
0
0
12
123
0.97
0.00
1.3
1.3
—
—
—
0
0
15
147
1.02
0.00
1.3
1.3
—
—
—
0
0
45
453
0.99
0.00
2.9
2.9
—
5.68
—
0
31
0
6
0.00
0.00
0.0
1.0
—
162.50
—
0
6
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
5.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
87.83
—
0
6
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
2.2
—
164.50
—
0
6
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
9
92
0.98
-0.00
1.9
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
7.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
7
70
1.00
-0.00
1.0
1.0
—
—
—
0
0
7
72
0.97
-0.00
1.4
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
9.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
98.92
—
0
5
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
1481.00
—
0
9
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.5
—
0.17
—
0
8
8
87
0.91
-0.00
2.1
3.6
68.51
68.82
e9/l
—
8
67
0
5
0.00
-0.00
0.0
2.2
—
6.66
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.3
—
67.13
—
0
8
0
5
0.00
-0.00
0.0
2.2
—
7.78
—
0
5
5
49
1.02
-0.00
1.0
2.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
1.93
—
0
7
0
9
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_CONGENITAL_PTOSIS_WIDE – Congenital ptosis

GWS hits: -

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