No definition available.
Congenital malformations of posterior segment of eye
Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE
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: 2 out of 7 registries used, show all original rules. |
212 |
4. Check minimum number of eventsNone |
212 |
5. Include endpoints |
212 |
6. Filter based on genotype QC (FinnGen only) |
182 |
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
- 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-
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 | 182 | 89 | 93 |
| Unadjusted period prevalence (%) | 0.04 | 0.03 | 0.04 |
| Median age at first event (years) | 49.92 | 50.76 | 49.12 |
-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
↥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
- 195
- Matched controls
- 1950
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q14.10
ICD-10 Finland
Congenital retinoschis
+∞
88.4
78
*
Q14.2
ICD-10 Finland
Congenital malformation of optic disc
+∞
54.8
50
*
Q14.8
ICD-10 Finland
Other congenital malformations of posterior segment of eye
+∞
36.6
34
*
Q14.18
ICD-10 Finland
Congenital malformation of retina
+∞
24.5
23
*
H33.1
ICD-10 Finland
Retinoschisis and retinal cysts
71.2
22.4
25
*
Z3229
NOMESCO Finland
Other healthcare associate professional
5.9
21.4
45
95
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
5.3
18.9
44
101
XCK10
NOMESCO Finland
Photography of fundus of eye
5.1
15.5
37
86
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
6.1
13.4
25
46
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.0
13.4
44
131
Q14.0
ICD-10 Finland
Congenital malformation of vitreous humour
+∞
12.6
12
*
Z31.5
ICD-10 Finland
Genetic counselling
4.7
11.8
30
73
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
127.2
11.6
12
*
CKC12
NOMESCO Finland
Photocoagulation of retina
5.8
11.4
22
42
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.0
10.7
60
249
XCD10
NOMESCO Finland
Electrophysiological examination of eye
11.6
10.5
19
18
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
21.4
10.0
14
7
H52.1
ICD-10 Finland
Myopia
5.3
9.0
19
39
H53.0
ICD-10 Finland
Amblyopia ex anopsia
15.0
8.8
14
10
Q13.0
ICD-10 Finland
Coloboma of iris
+∞
8.4
8
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
3.5
8.4
31
99
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
3.3
8.1
34
118
Z2446
NOMESCO Finland
Social worker
3.5
8.0
30
97
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.6
7.6
27
84
Q14.9
ICD-10 Finland
Congenital malformation of posterior segment of eye, unspecified
+∞
7.3
7
*
XCK00
NOMESCO Finland
Perimetry
4.5
7.2
18
43
H53.1
ICD-10 Finland
Subjective visual disturbances
3.4
6.2
23
73
UDC00
NOMESCO Finland
Ear microscopy
3.3
6.2
24
79
H33.0
ICD-10 Finland
Retinal detachment with retinal break
5.9
6.1
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
26
102
2.79
4.96
10.0
8.9
0.59
0.61
%
0.08
26
102
26
104
2.73
4.78
10.0
8.8
0.95
1.26
%
1.24
26
104
23
90
2.76
4.40
14.7
18.0
1.30
1.30
mg/l
0.00
23
82
150
1228
1.96
3.83
8.5
8.6
84.12
90.72
u/l
0.90
145
1168
33
165
2.20
3.77
13.0
10.4
23.44
23.82
mmol/l
0.35
33
165
38
202
2.09
3.73
10.9
10.0
5.17
4.88
kpa
0.36
38
196
188
1725
3.50
3.62
21.8
19.4
81.71
75.29
umol/l
0.71
188
1710
127
1011
1.73
3.28
12.0
6.9
6.64
6.59
mmol/l
0.11
120
954
184
1670
2.80
2.98
17.8
15.9
20.53
22.14
mg/l
0.36
155
1334
38
222
1.88
2.85
12.7
10.2
5.64
5.81
kpa
0.69
38
217
8
22
3.75
2.39
1.9
6.6
—
—
—
0
0
29
165
1.89
2.35
14.1
12.3
9.08
8.43
mmol/l
0.20
29
160
62
439
1.60
2.34
6.3
3.4
1309.79
1306.16
ng/l
0.00
56
369
123
1019
1.56
2.31
10.5
12.3
4.17
3.96
e9/l
0.45
109
872
6
13
4.72
2.29
1.5
2.5
2161.00
786.92
u/ml
—
6
13
105
842
1.54
2.27
13.7
10.7
1.22
1.21
mmol/l
1.29
96
741
91
708
1.53
2.26
6.8
6.2
35.84
35.92
g/l
0.05
85
676
107
866
1.52
2.19
6.3
7.8
12.50
11.62
umol/l
0.17
101
833
67
494
1.54
2.09
4.8
4.0
6.99
47.70
mg/mmol
0.59
46
310
107
877
1.49
1.99
4.2
4.1
0.00
0.00
estimate
-0.00
16
178
58
420
1.54
1.95
2.9
2.8
—
—
—
0
0
44
299
1.61
1.94
4.3
3.9
2.96
2.19
e6/l
0.18
29
141
31
192
1.73
1.93
33.9
15.5
25.02
25.07
mmol/l
0.03
31
192
7
22
3.26
1.90
1.4
1.8
—
—
—
0
0
12
53
2.35
1.84
2.6
2.0
—
—
—
0
0
143
1254
1.53
1.84
5.0
4.6
12.31
10.64
mm/h
0.57
137
1174
101
828
1.46
1.82
4.1
3.2
104.18
107.98
ug/l
0.09
96
781
29
181
1.71
1.76
1.9
2.4
12.36
13.01
nmol/l
0.16
29
173
106
886
1.43
1.68
4.2
4.1
0.00
1.84
estimate
0.50
16
165
94
770
1.43
1.66
3.2
3.2
—
—
estimate
—
0
0
45
319
1.53
1.65
4.2
3.5
1.42
0.83
e6/l
0.54
30
162
12
56
2.22
1.65
2.6
2.0
—
—
—
0
0
21
122
1.81
1.62
1.4
1.7
—
—
—
0
0
26
162
1.70
1.59
9.8
7.9
5.33
5.02
kpa
1.01
26
156
103
862
1.41
1.59
4.3
4.1
0.00
0.00
estimate
-0.00
16
180
39
270
1.56
1.59
4.1
3.2
29.90
29.87
s
0.01
39
260
34
229
1.59
1.55
1.6
1.6
812.51
1252.59
nmol/l
3.11
27
180
7
27
2.65
1.53
1.4
1.6
—
—
—
0
0
82
663
1.41
1.53
2.1
2.0
104.63
96.24
pmol/l
0.75
45
349
23
141
1.72
1.50
3.0
3.7
61.44
61.33
ml/min/173m2
—
9
58
17
95
1.86
1.48
4.1
1.7
—
—
—
0
0
160
1463
1.52
1.44
15.9
14.7
82.02
84.68
ml/min/173m2
0.78
148
1315
183
1731
1.93
1.40
13.0
12.4
25.47
26.86
u/l
0.47
183
1696
29
417
0.64
1.39
1.9
1.7
—
—
—
0
0
5
18
2.82
1.29
3.2
2.8
105.60
106.17
mmol/l
—
5
18
5
18
2.82
1.29
1.0
1.2
—
—
—
0
0
5
18
2.82
1.29
3.2
2.8
1.21
1.19
mmol/l
—
5
18
63
499
1.39
1.29
4.5
3.7
1.39
0.36
e6/l
0.73
49
352
38
274
1.48
1.29
3.3
1.8
—
—
—
0
0
5
19
2.67
1.22
1.0
1.2
—
—
—
0
0
55
430
1.39
1.21
2.7
2.6
2.71
2.63
mg/l
0.15
47
383
47
360
1.40
1.16
2.9
2.4
0.84
1.38
mg/l
1.09
37
282
132
1187
1.35
1.13
4.0
3.4
—
—
—
0
0
8
40
2.04
1.13
1.6
1.5
—
—
—
0
0
167
1561
1.49
1.13
5.2
4.9
1.45
1.46
mmol/l
0.09
158
1460
37
273
1.44
1.12
16.9
9.4
1.17
1.18
mmol/l
0.07
37
257
7
31
2.30
1.11
1.4
1.3
—
—
—
0
0
5
21
2.42
1.09
7.0
3.6
1.86
3.08
nmol/l
—
5
21
25
171
1.53
1.09
4.4
4.7
33.53
31.59
%
0.51
17
108
167
1566
1.46
1.06
5.2
5.0
4.50
4.62
mmol/l
0.94
158
1477
20
131
1.59
1.05
1.4
1.6
—
—
—
0
0
9
48
1.92
1.02
1.7
1.5
—
—
—
0
0
160
1493
1.40
1.00
4.4
4.2
1.19
1.24
mmol/l
0.51
150
1388
144
1324
1.33
0.98
4.0
4.2
14.92
14.69
pmol/l
0.44
132
1229
9
50
1.84
0.98
1.6
3.7
387.00
451.80
mg/l
—
9
50
68
567
1.31
0.97
3.5
3.4
2.39
2.36
mmol/l
0.63
62
521
11
63
1.79
0.92
1.9
1.7
—
—
—
0
0
35
268
1.37
0.87
1.4
1.3
23.83
5.79
u/ml
0.54
14
105
10
57
1.80
0.85
2.1
1.4
—
—
—
0
0
163
1539
1.36
0.83
5.3
5.1
1.87
1.91
mu/l
0.18
155
1440
128
1175
1.26
0.78
3.9
3.7
42.02
45.68
u/l
0.26
123
1131
0
28
0.00
0.76
0.0
1.6
—
—
—
0
0
8
136
0.57
0.76
2.6
2.0
—
—
—
0
0
67
574
1.25
0.75
5.2
3.7
117.40
34.92
ng/l
0.47
51
385
5
25
2.03
0.73
1.0
1.6
—
—
—
0
0
19
136
1.44
0.70
1.4
1.9
3.21
3.46
mmol/l
—
8
100
10
62
1.65
0.66
4.1
2.0
794.10
257.86
ug/l
—
10
56
12
79
1.55
0.64
1.4
1.7
—
—
—
0
0
5
29
1.74
0.64
1.0
1.1
—
—
—
0
0
10
63
1.62
0.63
1.0
1.3
—
—
—
0
0
38
312
1.27
0.61
4.7
3.6
314.53
320.82
ng/l
0.01
30
230
0
20
0.00
0.60
0.0
1.4
—
—
—
0
0
166
1590
1.30
0.60
5.9
5.5
2.60
2.73
mmol/l
1.29
157
1492
8
53
1.53
0.59
1.6
2.5
—
—
—
0
0
6
35
1.74
0.58
1.3
1.1
—
—
—
0
0
53
455
1.23
0.58
2.1
1.7
18.82
21.88
nmol/l
0.65
44
384
10
65
1.57
0.56
2.0
1.6
—
—
—
0
0
6
37
1.64
0.56
2.5
1.6
—
—
—
0
0
6
38
1.60
0.55
1.3
1.1
—
—
—
0
0
6
38
1.60
0.55
1.3
1.1
—
—
—
0
0
24
188
1.32
0.54
1.5
2.0
3.34
3.29
ratio
0.06
12
152
56
491
1.20
0.50
4.7
5.3
2.44
2.84
ug/l
0.19
51
441
12
85
1.44
0.48
1.6
1.3
—
—
—
0
0
155
1485
1.21
0.47
6.4
6.0
38.90
38.96
mmol/mol
0.03
150
1413
9
128
0.69
0.45
1.0
1.0
—
—
—
0
0
0
16
0.00
0.41
0.0
4.0
—
0.81
—
0
16
52
461
1.17
0.41
3.2
4.2
0.00
0.00
estimate
-0.00
15
165
5
34
1.48
0.40
2.2
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
5
35
1.44
0.39
1.2
1.5
—
—
—
0
0
0
19
0.00
0.39
0.0
1.4
—
—
—
0
0
15
117
1.31
0.36
2.5
2.2
—
29.74
—
0
5
6
41
1.48
0.36
1.5
1.6
—
—
—
0
0
35
304
1.18
0.35
2.4
2.8
2.46
2.45
mmol/l
0.10
30
271
6
46
1.31
0.33
1.0
1.4
—
—
—
0
0
21
174
1.23
0.33
2.4
3.5
0.21
0.21
g/l
0.08
21
163
6
47
1.29
0.32
1.0
1.7
—
—
—
0
0
44
393
1.15
0.32
4.3
4.6
21.77
22.78
%
0.18
20
182
12
93
1.31
0.30
2.3
2.0
12.30
20.82
iu/l
—
7
74
25
214
1.19
0.29
3.8
1.7
—
—
—
0
0
34
300
1.16
0.29
1.4
1.3
20.20
31.62
iu/ml
0.60
12
96
34
301
1.16
0.28
3.8
3.1
0.65
0.77
ug/l
0.50
22
184
8
65
1.24
0.27
2.8
3.8
25.75
611.53
u/ml
—
8
56
24
207
1.18
0.26
3.9
1.7
—
—
—
0
0
5
73
0.68
0.26
1.2
1.2
—
4.35
—
0
6
5
75
0.66
0.26
1.2
1.3
—
—
—
0
0
19
223
0.84
0.26
1.3
1.4
—
—
—
0
0
5
38
1.32
0.23
1.0
1.2
—
—
—
0
0
69
647
1.10
0.23
4.3
3.9
0.00
0.01
estimate
0.50
14
152
5
42
1.20
0.21
1.0
5.0
7.90
10.02
pmol/l
—
5
42
0
11
0.00
0.21
0.0
1.4
—
10.82
—
0
11
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
20
224
0.88
0.16
2.0
2.4
—
—
—
0
0
13
149
0.86
0.14
3.8
7.1
—
—
—
0
0
27
288
0.93
0.09
2.1
1.7
490.00
441.48
pmol/l
0.44
22
249
5
48
1.04
0.09
1.4
1.1
—
4.94
—
0
7
41
391
1.06
0.09
2.7
3.6
1.02
1.02
kg/l
0.20
26
252
6
56
1.07
0.08
1.0
1.3
—
—
—
0
0
7
66
1.06
0.08
2.0
1.6
—
0.01
—
0
9
6
70
0.85
0.08
1.0
1.6
—
—
—
0
0
49
508
0.95
0.07
1.4
1.6
0.55
2.43
u/ml
—
10
125
18
192
0.93
0.05
6.5
5.2
220.94
244.85
u/l
0.84
18
186
68
695
0.97
0.05
2.0
2.1
1.36
1.36
mmol/l
0.02
60
604
17
160
1.07
0.04
1.8
3.8
—
—
—
0
0
12
128
0.93
0.02
2.8
5.2
1.21
1.22
mmol/l
0.31
12
114
48
488
0.98
0.01
4.6
3.4
0.00
0.17
estimate
0.50
12
148
20
206
0.97
0.00
2.0
2.3
—
—
—
0
0
152
1519
1.00
0.00
5.7
4.7
5.80
5.85
mmol/l
0.19
143
1414
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
8
89
0.89
0.00
1.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
15.76
—
0
5
0
8
0.00
-0.00
0.0
1.1
—
1309.50
—
0
8
0
8
0.00
-0.00
0.0
4.3
—
199.25
—
0
8
5
59
0.84
-0.00
1.4
2.0
0.14
6.09
ug/l
—
5
53
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
71.62
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
26.14
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
0.19
—
0
5
0
7
0.00
-0.00
0.0
1.4
—
6.33
—
0
7
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
1.06
—
0
7
5
49
1.02
-0.00
3.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
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: 6
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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