No definition available.
Congenital malformations of posterior segment of eye
Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
181 |
4. Check minimum number of eventsNone |
181 |
5. Include endpoints |
181 |
6. Filter based on genotype QC (FinnGen only) |
181 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q1
- Name in latin
- Malformationes congenitae segmenti posterioris oculi
Similar endpoints
↥List of similar endpoints to
Congenital malformations of posterior segment of eye
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of eye, ear, face and neck
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2267 | 918 | 1344 |
| Only index persons | 1896 | 773 | 1123 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.04 |
| Only index persons | 0.04 | 0.03 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 18.62 | 21.64 | 16.46 |
| Only index persons | 25.83 | 31.39 | 22.00 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 181 | 91 | 90 |
| Unadjusted period prevalence (%) | 0.04 | 0.03 | 0.04 |
| Median age at first event (years) | 46.20 | 49.70 | 42.67 |
-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
No data
CodeWAS (R11)
↥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
- 167
- Matched controls
- 1668
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q14.10
ICD-10 Finland
Congenital retinoschis
+∞
78.5
69
*
Q14.2
ICD-10 Finland
Congenital malformation of optic disc
+∞
42.5
39
*
Q14.8
ICD-10 Finland
Other congenital malformations of posterior segment of eye
+∞
34.6
32
*
H33.1
ICD-10 Finland
Retinoschisis and retinal cysts
119.3
20.1
21
*
Q14.18
ICD-10 Finland
Congenital malformation of retina
+∞
18.0
17
*
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
5.8
11.3
33
68
H53.0
ICD-10 Finland
Amblyopia ex anopsia
46.7
11.1
13
*
XCD10
NOMESCO Finland
Electrophysiological examination of eye
13.3
10.6
18
15
Q14.0
ICD-10 Finland
Congenital malformation of vitreous humour
+∞
10.5
10
*
XCK10
NOMESCO Finland
Photography of fundus of eye
5.0
10.0
33
78
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
58.5
9.8
11
*
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
58.5
9.8
11
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.3
9.6
37
103
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.5
8.8
46
164
H33.0
ICD-10 Finland
Retinal detachment with retinal break
10.2
8.0
15
16
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.1
7.4
29
82
Q13.0
ICD-10 Finland
Coloboma of iris
+∞
7.3
7
*
Q14.9
ICD-10 Finland
Congenital malformation of posterior segment of eye, unspecified
+∞
7.3
7
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.6
7.3
25
62
Z31.5
ICD-10 Finland
Genetic counselling
4.8
7.1
23
54
DFF00
NOMESCO Finland
Pure tone audiometry
4.1
6.9
26
71
UDC00
NOMESCO Finland
Ear microscopy
4.6
6.3
21
51
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
4.6
6.1
20
48
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
20
79
2.72
3.78
11.8
8.8
0.9
1.3
%
1.05
20
79
82
569
1.81
3.68
5.7
6.1
35.6
35.7
g/l
0.05
76
547
6
6
10.28
3.52
4.0
8.3
—
—
—
0
0
28
135
2.27
3.51
12.4
12.1
9.4
8.1
mmol/l
0.43
28
130
32
169
2.09
3.21
11.7
9.9
5.3
4.9
kpa
0.50
32
164
131
1074
1.80
3.08
7.6
7.6
85.3
92.4
u/l
0.83
126
1015
93
696
1.69
3.03
12.8
10.2
1.2
1.2
mmol/l
0.30
83
600
12
41
3.06
2.92
2.5
1.9
—
—
—
0
0
33
183
1.98
2.90
12.7
10.4
1.0
1.6
mmol/l
0.34
28
149
88
655
1.67
2.89
4.0
4.6
—
—
—
0
0
53
344
1.76
2.86
2.7
2.6
—
—
—
0
0
34
195
1.92
2.71
3.5
2.8
2.4
2.4
g/l
0.09
34
181
12
44
2.85
2.60
2.5
2.0
—
—
—
0
0
40
247
1.80
2.53
3.9
3.7
3.1
2.3
e6/l
0.17
28
133
41
257
1.77
2.47
3.9
3.3
1.5
0.8
e6/l
0.67
29
144
37
225
1.81
2.46
13.4
9.3
1.2
1.2
mmol/l
0.34
37
213
51
342
1.68
2.42
6.3
3.4
1612.8
1270.1
ng/l
0.21
46
287
106
853
1.59
2.37
12.0
6.3
6.6
6.6
mmol/l
0.04
98
792
164
1484
2.12
2.32
15.6
14.0
19.8
22.1
mg/l
0.51
137
1119
7
19
3.79
2.17
1.4
1.8
—
—
—
0
0
91
720
1.53
2.11
6.3
7.4
12.6
11.3
umol/l
0.24
86
691
7
20
3.60
2.07
1.9
5.5
—
—
—
0
0
36
229
1.71
2.05
3.9
3.3
30.0
30.2
s
0.13
36
219
108
890
1.53
2.05
10.2
11.3
4.3
3.9
e9/l
0.75
100
765
126
1079
1.55
1.96
4.5
4.2
13.0
11.0
mm/h
0.63
120
1005
23
132
1.85
1.84
34.1
11.4
1.2
1.3
mmol/l
0.24
23
126
5
12
4.25
1.83
1.2
2.4
2154.6
767.3
u/ml
—
5
12
24
140
1.82
1.83
9.8
8.2
5.3
5.0
kpa
1.11
24
129
47
330
1.57
1.82
2.4
2.6
2.8
2.9
mg/l
0.11
41
291
26
156
1.78
1.81
33.1
14.0
25.3
25.1
mmol/l
0.09
26
156
15
74
2.12
1.81
2.4
1.8
—
—
—
0
0
57
419
1.53
1.81
4.4
3.6
1.5
0.4
e6/l
0.73
46
309
34
222
1.65
1.76
3.6
2.7
13.7
13.3
umol/l
0.12
34
207
7
24
2.99
1.74
1.4
1.6
—
—
—
0
0
59
443
1.49
1.68
3.3
3.5
2.4
2.4
mmol/l
0.35
52
398
64
493
1.46
1.59
2.0
1.8
100.0
95.5
pmol/l
0.32
36
255
32
213
1.61
1.54
2.5
1.8
—
—
—
0
0
83
680
1.41
1.45
3.8
3.8
0.0
0.0
estimate
0.00
12
129
6
22
2.78
1.44
1.5
1.4
—
—
—
0
0
9
42
2.20
1.36
1.8
1.3
—
—
—
0
0
82
677
1.39
1.35
6.9
5.4
0.0
0.0
estimate
0.00
12
134
40
290
1.49
1.33
1.7
1.5
19.9
21.2
nmol/l
0.19
35
246
17
99
1.79
1.32
9.8
8.7
10.4
9.5
kpa
0.42
17
90
83
692
1.37
1.27
4.3
3.8
0.0
0.0
estimate
0.50
12
124
63
503
1.39
1.25
4.6
3.8
—
—
—
0
0
5
19
2.68
1.22
1.2
1.1
—
—
—
0
0
31
217
1.52
1.22
1.5
1.2
25.5
7.3
u/ml
0.50
13
80
137
1245
1.41
1.18
13.8
12.4
81.7
83.9
ml/min/173m2
0.49
119
973
25
355
0.66
1.14
1.9
1.7
—
—
—
0
0
12
67
1.85
1.07
46.5
9.7
24.9
24.5
mmol/l
0.24
12
60
39
296
1.40
1.03
2.9
2.5
0.9
1.5
mg/l
0.97
29
230
151
1408
1.44
1.01
22.1
15.1
39.1
39.9
%
0.60
118
1123
16
100
1.66
1.00
1.3
1.8
—
—
—
0
0
29
210
1.45
0.98
1.7
1.6
806.0
1269.1
nmol/l
2.90
23
167
18
117
1.60
0.98
2.8
4.0
60.4
59.6
ml/min/173m2
—
7
48
142
1316
1.37
0.94
4.1
3.8
1.2
1.2
mmol/l
0.47
131
1217
118
1070
1.30
0.88
3.7
3.4
—
—
—
0
0
12
72
1.71
0.87
1.9
2.0
12.3
19.2
iu/l
—
7
59
123
1128
1.28
0.80
3.8
3.6
14.8
14.7
pmol/l
0.22
112
1036
11
66
1.71
0.80
6.7
7.3
57.9
51.3
%
0.44
11
66
144
1348
1.33
0.80
4.7
4.3
1.9
2.8
mu/l
0.50
136
1243
6
33
1.85
0.80
1.5
1.6
—
—
—
0
0
29
221
1.37
0.76
1.3
1.2
21.0
36.0
iu/ml
0.68
11
73
7
44
1.61
0.66
1.7
3.7
397.4
456.1
mg/l
—
7
44
20
148
1.39
0.63
4.4
4.3
34.3
31.5
%
0.76
15
96
8
49
1.66
0.63
1.0
1.4
—
—
—
0
0
56
481
1.24
0.62
5.2
3.7
133.5
37.8
ng/l
0.47
44
314
5
30
1.69
0.62
2.2
1.2
—
—
—
0
0
5
30
1.69
0.62
1.0
1.4
—
—
—
0
0
12
80
1.54
0.61
1.6
1.4
—
—
—
0
0
0
21
0.00
0.60
0.0
1.7
—
—
—
0
0
10
64
1.60
0.60
1.4
1.6
—
—
—
0
0
143
1359
1.25
0.55
4.6
4.1
1.5
1.5
mmol/l
0.23
132
1259
6
39
1.56
0.53
1.7
2.4
—
—
—
0
0
7
45
1.58
0.49
1.6
1.8
—
—
—
0
0
7
47
1.51
0.48
1.6
1.7
—
—
—
0
0
58
513
1.19
0.47
4.4
3.9
—
—
—
0
0
143
1367
1.22
0.47
4.7
4.2
4.6
4.6
mmol/l
0.58
132
1281
10
139
0.70
0.44
1.3
1.7
—
—
—
0
0
20
159
1.29
0.42
2.4
1.6
—
—
—
0
0
0
15
0.00
0.41
0.0
4.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
5
34
1.48
0.40
1.4
1.1
—
—
—
0
0
5
34
1.48
0.40
1.4
1.1
—
—
—
0
0
40
347
1.20
0.40
3.3
4.2
0.0
0.0
estimate
0.00
12
127
7
105
0.65
0.40
1.9
1.8
—
—
—
0
0
29
244
1.22
0.39
4.3
3.6
246.1
229.0
ng/l
0.03
22
180
8
113
0.69
0.38
1.0
1.0
—
—
—
0
0
132
1267
1.15
0.34
5.7
5.3
39.1
39.6
mmol/mol
0.24
124
1191
6
47
1.29
0.32
1.0
2.0
—
—
—
0
0
7
52
1.36
0.31
3.4
1.7
—
—
—
0
0
18
148
1.24
0.30
6.3
20.4
1.3
1.3
inr
—
6
21
19
159
1.22
0.28
2.5
1.7
—
—
—
0
0
143
1390
1.14
0.25
5.3
4.6
2.7
2.8
mmol/l
0.85
132
1291
6
82
0.72
0.24
1.0
1.3
—
—
—
0
0
5
41
1.23
0.22
1.0
1.6
—
—
—
0
0
17
198
0.84
0.22
1.3
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
6
48
1.26
0.20
3.7
1.7
—
84.0
—
0
7
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
6
49
1.23
0.20
6.2
1.3
—
—
—
0
0
12
140
0.85
0.16
3.7
7.1
—
—
—
0
0
35
377
0.91
0.15
1.7
1.8
1.2
1.4
mmol/l
0.70
30
329
34
319
1.08
0.11
4.2
4.2
21.8
22.8
%
0.16
15
147
12
106
1.14
0.10
2.8
5.2
1.2
1.2
mmol/l
0.43
12
98
15
135
1.12
0.10
1.5
3.9
—
—
—
0
0
5
46
1.09
0.09
2.8
1.3
—
—
—
0
0
25
233
1.08
0.09
3.6
2.9
0.7
0.8
ug/l
0.25
15
149
6
55
1.09
0.09
3.2
3.8
5.0
209.4
u/ml
—
6
48
5
63
0.79
0.08
1.2
1.2
—
—
—
0
0
8
90
0.88
0.07
1.6
1.5
—
—
—
0
0
36
348
1.04
0.04
3.8
3.5
358.6
5045.1
umol/l
1.26
36
307
16
151
1.07
0.03
2.5
3.5
0.2
0.2
g/l
0.22
16
142
132
1330
0.97
0.03
5.1
4.1
5.7
5.8
mmol/l
0.58
124
1232
15
157
0.95
0.01
6.7
4.7
227.9
246.0
u/l
0.43
15
152
17
163
1.05
0.01
1.9
2.3
—
—
—
0
0
41
406
1.01
0.00
1.4
1.6
0.6
1.4
u/ml
—
8
93
18
182
0.99
0.00
1.7
2.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
1.2
—
0
5
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
99.0
—
0
5
0
8
0.00
0.00
0.0
3.5
—
45.5
—
0
8
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
1497.5
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
6
64
0.94
0.00
1.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
4.6
—
207.9
—
0
7
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE | 1.133 [0.83, 1.54] | 0.424 |
| Birth year | 0.996 [0.99, 1.01] | 0.419 |
During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 832 females with Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE | 0.919 [0.7, 1.21] | 0.544 |
| Birth year | 0.986 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 85 out of 1243 males with Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.1% | 0.158% |
| 5 | 0.631% | 0.93% |
| 10 | 1.739% | 2.363% |
| 15 | 3.15% | 4.483% |
| 20 | 5.696% | 7.972% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE – Congenital malformations of posterior segment of eye
GWS hits: 3
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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