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:
3 out of 7 registries used, show all original rules. |
162 |
4. Check minimum number of eventsNone |
162 |
5. Include endpointsNone |
162 |
6. Filter based on genotype QC (FinnGen only) |
146 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
- First used in FinnGen datafreeze
- DF13
Similar endpoints
↥List of similar endpoints to
Congenital ptosis, including avohilmo
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of eyelid, lacrimal apparatus and orbit, including avohilmo
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- Any prescribed medicine buy
- Any event in hilmo or specialist outpatient
Similar with less cases:
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 | 146 | 77 | 69 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | 28.98 | 25.66 | 32.69 |
-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
- 153
- Matched controls
- 1530
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q10.0
ICD-10 Finland
Congenital ptosis
+∞
221.2
153
*
H02.4
ICD-10 Finland
Ptosis of eyelid
75.1
101.6
57
12
CBJ40
NOMESCO Finland
Resection of levator muscle of eyelid
233.3
36.5
36
*
CBJ10
NOMESCO Finland
Fascia plate sling or synthetic material for ptosis correction
+∞
25.7
24
*
74482
ICD-8 Finland
Congenital anomalies of eye, Ptosis
+∞
17.0
16
*
CBJ30
NOMESCO Finland
Plastic repair of levator aponeurosis of eyelid
141.1
12.6
13
*
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
3.3
11.6
71
320
XCK10
NOMESCO Finland
Photography of fundus of eye
5.3
11.4
25
54
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
*
ZXD20
NOMESCO Finland
Day surgery
3.8
8.1
28
86
3743A
ICD-9 Finland
Other disorders of eyelids, Ptosis of eyelid[PTOSIS]
+∞
7.3
7
*
H02.3
ICD-10 Finland
Blepharochalasis
6.0
6.2
16
29
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
29
140
2.32
3.68
1.4
1.6
868.75
1255.53
nmol/l
1.69
23
110
6
10
6.19
2.72
1.0
2.1
256.67
185.36
pmol/l
—
6
10
75
555
1.69
2.59
2.7
2.8
79.41
73.47
nmol/l
0.93
68
520
119
1013
1.79
2.31
4.1
4.0
14.73
14.66
pmol/l
0.12
110
938
29
168
1.90
2.28
2.5
2.4
21.65
24.60
%
0.62
29
161
61
449
1.60
2.04
2.3
1.8
99.33
95.17
pmol/l
0.26
36
236
23
128
1.94
2.03
1.8
2.2
11.43
13.38
nmol/l
0.38
23
123
6
16
3.86
1.95
1.3
3.4
—
—
—
0
0
6
16
3.86
1.95
1.3
3.1
9.50
8.25
%
—
6
16
142
1300
2.28
1.93
14.2
14.1
24.66
22.62
mg/l
0.27
111
1044
22
123
1.92
1.92
1.5
1.7
3.52
3.40
mmol/l
0.19
14
84
49
347
1.61
1.90
2.4
2.3
2.29
2.56
mg/l
0.59
44
310
83
667
1.53
1.84
3.9
3.1
96.04
91.12
ug/l
0.12
78
639
31
198
1.71
1.78
2.5
2.3
13.91
14.11
umol/l
0.05
31
188
5
13
3.94
1.73
3.6
3.8
3.70
3.18
ug/l
—
5
13
124
1112
1.61
1.49
12.3
12.9
94.29
93.36
ml/min/173m2
0.17
111
1006
67
532
1.46
1.48
5.9
11.0
1.21
1.22
mmol/l
0.61
61
503
118
1047
1.56
1.48
5.7
5.2
38.22
37.88
mmol/mol
0.16
110
991
143
1336
2.08
1.44
16.2
16.1
68.34
71.20
umol/l
0.99
143
1323
26
168
1.66
1.43
1.8
1.8
3.95
3.41
ratio
1.30
17
128
0
38
0.00
1.36
0.0
1.8
—
—
—
0
0
129
1184
1.57
1.21
5.4
4.9
1.83
1.85
mu/l
0.09
123
1109
126
1153
1.53
1.17
4.9
4.6
2.81
2.66
mmol/l
1.34
116
1086
119
1077
1.47
1.17
3.8
3.6
1.26
1.24
mmol/l
0.10
109
1004
5
20
2.55
1.16
1.4
1.4
—
—
—
0
0
7
31
2.32
1.12
1.4
1.2
—
—
—
0
0
25
350
0.66
1.10
3.3
2.4
—
—
—
0
0
5
21
2.43
1.10
1.6
1.6
—
—
—
0
0
29
206
1.50
1.09
1.3
1.3
0.98
6.72
u/ml
—
9
80
20
130
1.62
1.09
7.2
9.0
1.51
1.04
mmol/l
0.25
15
100
125
1148
1.49
1.08
4.4
4.2
4.59
4.50
mmol/l
0.48
115
1082
6
32
1.91
0.82
1.5
1.2
—
—
—
0
0
123
1145
1.38
0.81
4.5
4.1
1.36
1.41
mmol/l
0.71
115
1073
68
585
1.29
0.80
6.0
10.9
1.21
1.22
mmol/l
0.57
60
516
6
33
1.85
0.80
1.0
1.1
—
—
—
0
0
0
25
0.00
0.80
0.0
1.1
—
—
—
0
0
0
25
0.00
0.80
0.0
1.1
—
256.00
—
0
5
47
385
1.32
0.79
2.2
3.5
20.86
23.30
ng/l
0.21
23
236
10
59
1.74
0.78
3.5
3.2
151.70
182.90
%
—
10
59
5
24
2.12
0.75
4.2
4.8
4.82
4.99
pmol/l
—
5
24
9
55
1.68
0.75
1.1
1.5
84.79
46.61
ug/l
—
9
55
25
324
0.73
0.71
3.0
2.3
—
—
—
0
0
29
225
1.36
0.70
1.3
1.3
13.37
27.96
iu/ml
1.04
15
60
26
199
1.37
0.68
1.3
1.5
—
—
—
0
0
87
784
1.25
0.67
11.1
11.2
4.21
4.12
e9/l
0.13
80
680
10
62
1.66
0.67
4.0
1.4
—
—
—
0
0
13
87
1.54
0.65
1.6
1.4
—
—
—
0
0
120
1126
1.30
0.64
4.9
4.1
5.81
5.71
mmol/l
0.31
113
1046
8
49
1.67
0.63
2.0
1.8
—
—
—
0
0
15
106
1.46
0.60
6.3
9.3
24.26
24.28
mmol/l
0.01
15
106
8
54
1.51
0.58
1.0
1.1
1.38
1.46
g/l
—
8
54
8
55
1.48
0.57
1.0
1.1
0.91
0.81
g/l
—
8
55
42
354
1.26
0.57
2.6
3.1
0.94
0.40
e6/l
0.31
32
258
6
38
1.60
0.55
2.3
1.5
—
—
—
0
0
9
62
1.48
0.54
1.4
1.3
—
—
—
0
0
65
579
1.21
0.52
2.5
3.1
—
—
estimate
—
0
0
9
64
1.43
0.52
2.0
1.9
—
—
—
0
0
9
64
1.43
0.52
1.1
1.4
—
—
—
0
0
9
129
0.68
0.45
1.1
1.1
—
—
—
0
0
14
104
1.38
0.45
3.7
3.4
—
—
—
0
0
36
308
1.22
0.43
1.6
1.6
17.83
21.58
nmol/l
1.02
31
269
0
15
0.00
0.41
0.0
1.7
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.6
—
—
—
0
0
0
16
0.00
0.41
0.0
1.6
—
—
—
0
0
0
16
0.00
0.41
0.0
1.6
—
—
—
0
0
0
16
0.00
0.41
0.0
1.6
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
18
143
1.29
0.39
6.9
14.0
24.64
25.02
mmol/l
0.21
18
143
49
437
1.18
0.38
2.7
3.7
—
—
—
0
0
6
43
1.41
0.35
2.3
3.8
4.83
5.65
umol/l
—
6
35
6
45
1.35
0.34
1.3
1.5
—
0.08
—
0
9
31
272
1.18
0.29
5.0
5.0
1.64
1.76
ug/l
0.10
26
239
25
215
1.19
0.29
2.1
2.7
2.50
0.88
e6/l
1.37
15
111
16
131
1.25
0.28
1.3
1.6
922.74
946.07
mu/l
0.05
16
118
9
75
1.21
0.25
10.6
16.7
0.67
0.62
%
—
9
75
10
78
1.30
0.25
1.5
1.5
—
—
—
0
0
9
77
1.18
0.25
10.6
16.4
1.73
1.29
%
—
9
77
5
38
1.33
0.23
1.4
1.4
—
—
—
0
0
36
326
1.14
0.23
3.9
3.3
1.02
1.02
kg/l
0.11
24
210
5
40
1.26
0.22
1.4
1.7
0.89
0.73
nmol/l
—
5
35
16
187
0.84
0.21
1.4
2.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
3.9
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
2.98
—
0
10
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
104
1075
0.90
0.21
3.6
3.8
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
239.62
—
0
13
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
18
156
1.17
0.19
2.2
2.9
0.83
0.71
ug/l
—
7
95
19
215
0.87
0.18
1.5
2.2
—
—
—
0
0
8
70
1.15
0.16
3.1
3.8
96.38
92.63
%
—
8
70
22
197
1.14
0.16
2.2
3.3
3.43
3.73
e6/l
0.08
12
97
8
72
1.12
0.16
1.4
1.8
—
—
—
0
0
9
78
1.16
0.15
3.1
1.9
—
—
—
0
0
10
84
1.20
0.14
1.6
1.3
—
—
—
0
0
30
278
1.10
0.13
2.1
2.3
1.18
1.17
mg/l
0.00
21
215
22
203
1.10
0.10
4.3
4.0
28.05
21.84
%
—
9
88
23
213
1.09
0.10
4.9
3.2
34.10
370.88
ng/l
—
10
138
5
44
1.14
0.10
1.0
2.3
—
—
—
0
0
16
145
1.12
0.10
2.6
1.7
—
—
—
0
0
17
155
1.11
0.09
8.6
12.3
105.71
104.74
mmol/l
0.56
17
155
5
48
1.04
0.09
2.2
1.4
—
—
—
0
0
5
48
1.04
0.09
2.2
1.5
—
—
—
0
0
6
55
1.09
0.09
1.3
1.5
—
—
—
0
0
28
297
0.93
0.08
4.4
4.1
9.68
70.86
mg/mmol
0.54
19
194
7
64
1.10
0.08
1.3
1.7
—
—
—
0
0
7
64
1.10
0.08
1.3
1.1
—
5.09
—
0
7
37
387
0.94
0.08
3.4
2.8
0.00
0.01
estimate
0.50
11
116
9
103
0.87
0.06
3.7
3.0
3.58
0.21
e6/l
—
9
97
95
935
1.04
0.06
4.5
4.2
10.36
9.42
mm/h
0.35
89
879
10
109
0.91
0.04
2.3
8.0
23.61
23.55
mmol/l
—
10
109
38
388
0.97
0.02
3.0
3.8
0.00
0.00
estimate
—
10
140
13
123
1.06
0.01
8.8
15.8
13.15
13.63
kpa
0.09
13
118
13
123
1.06
0.01
8.8
15.8
5.75
5.19
kpa
1.28
13
118
70
708
0.98
0.01
3.6
3.5
0.00
0.00
estimate
-0.00
11
140
30
301
1.00
0.00
2.8
2.8
—
—
—
0
0
43
431
1.00
0.00
2.2
1.9
—
—
—
0
0
70
702
0.99
0.00
3.4
3.5
0.00
0.00
estimate
-0.00
13
149
71
707
1.01
0.00
3.5
3.5
0.00
0.00
estimate
-0.00
13
149
43
428
1.01
0.00
1.5
1.5
0.42
2.81
u/ml
—
10
100
15
152
0.99
0.00
2.7
1.6
—
—
—
0
0
11
112
0.98
0.00
5.2
7.8
—
—
—
0
0
13
132
0.98
0.00
2.1
3.8
0.19
0.22
g/l
0.87
13
124
20
202
0.99
0.00
2.3
1.9
—
—
—
0
0
53
531
1.00
0.00
3.5
3.2
0.00
0.02
estimate
—
10
122
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
0.29
—
0
8
0
8
0.00
0.00
0.0
3.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
1.13
—
0
8
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
0.07
—
0
8
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
19.52
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
51.29
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
0.98
—
0
6
0
7
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
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
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
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
106.57
—
0
7
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
108.17
—
0
6
0
5
0.00
-0.00
0.0
3.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
6
69
0.86
-0.00
1.3
1.6
66.43
55.66
ug/l
—
6
61
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
6.75
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
22.80
—
0
5
0
7
0.00
-0.00
0.0
5.0
—
6.07
—
0
7
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
56.20
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
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, including avohilmo
GWS hits: 1
This endpoint is excluded (different definition than used in FinnGen).