Other congenital malformations, not elsewhere classified

Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED

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 Q89
  • Cause of death: ICD-10 Q89

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

347

4. Check minimum number of events

None

347

5. Include endpoints

None

347

6. Filter based on genotype QC (FinnGen only)

314

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q8
Name in latin
Aliae malformationes congenitae non alibi classificatae

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3086 1558 1514
Only index persons 2386 1228 1158
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.04
Only index persons 0.04 0.05 0.04
Median age at first event (years)
Whole population 10.81 12.42 8.94
Only index persons 16.53 18.98 13.93

-FinnGen-

Key figures

All Female Male
Number of individuals 314 197 117
Unadjusted period prevalence (%) 0.06 0.07 0.05
Median age at first event (years) 34.75 35.09 34.17

-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
329
Matched controls
3290
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q89.23
ICD-10 Finland
Cyst of the ductus thyreoglossus
+∞
121.6
109
*
Q89.7
ICD-10 Finland
Multiple congenital malformations, not elsewhere classified
+∞
72.6
67
*
ENB50
NOMESCO Finland
Excision of cyst or fistula of thyroglossic duct
414.9
68.2
66
*
Q89.9
ICD-10 Finland
Congenital malformation, unspecified
+∞
38.3
36
*
Z31.5
ICD-10 Finland
Genetic counselling
6.2
35.3
69
135
Q89.34
ICD-10 Finland
Cartagena syndrome (immotile cilia)
+∞
32.9
31
*
ZXD10
NOMESCO Finland
Scheduled procedure
3.8
31.3
177
777
WX408
NOMESCO Finland
General anesthesy, balanced
3.7
29.0
140
549
ZXE10
NOMESCO Finland
More than one and less than three hours
3.5
27.9
162
711
EP1AE
NOMESCO Finland
Neck ultrasound examination
6.7
27.8
48
82
R22.1
ICD-10 Finland
Localized swelling, mass and lump, neck
8.0
26.4
38
53
Q89.30
ICD-10 Finland
Situs inversus with dextrocardia
+∞
25.3
24
*
Q89.88
ICD-10 Finland
Other specified congenital malformations
+∞
22.1
21
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.8
20.8
51
120
Z2446
NOMESCO Finland
Social worker
4.0
20.0
67
200
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.1
19.8
62
176
Q89.22
ICD-10 Finland
Permanent ductus thyreoglossus
+∞
18.9
18
*
J47
ICD-10 Finland
Bronchiectasis
28.6
18.1
24
9
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
17.9
17
*
Z3226
NOMESCO Finland
Physiotherapist
3.1
17.5
96
390
Q18.0
ICD-10 Finland
Sinus, fistula and cyst of branchial cleft
33.5
17.3
22
7
WX402
NOMESCO Finland
General anaesthesia
2.8
17.1
116
528
ZXE00
NOMESCO Finland
One hour or less
2.6
16.5
163
895
R4110
NOMESCO Finland
Physiotherapy
2.7
16.1
119
564
Z2221
NOMESCO Finland
Medical doctor
2.7
15.6
122
593
R62.0
ICD-10 Finland
Delayed milestone
5.9
15.5
29
53
Q18.8
ICD-10 Finland
Other specified congenital malformations of face and neck
47.4
15.2
18
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.1
14.9
72
270
TPH07
NOMESCO Finland
Cathetrisation of artery
3.6
14.5
52
161
UDC00
NOMESCO Finland
Ear microscopy
3.9
14.0
45
129
XA800
NOMESCO Finland
Neuropsychological investigation
4.0
14.0
42
115
R1100
NOMESCO Finland
General evaluation of the need for rehabilitation
6.2
13.7
24
41
Z3229
NOMESCO Finland
Other healthcare associate professional
3.6
13.5
49
153
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
5.6
13.2
26
50
Z2445
NOMESCO Finland
Psychologist
3.5
13.1
50
161
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.1
12.7
60
221
Q24.0
ICD-10 Finland
Dextrocardia
134.9
12.5
13
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.5
12.3
99
481
J45.1
ICD-10 Finland
Nonallergic asthma
3.5
12.2
46
147
XF404
NOMESCO Finland
Ambulatory ECG
4.0
12.2
37
102
AA5HE
NOMESCO Finland
Brain ultrasound examination in a child
5.8
11.8
22
40
ZXE05
NOMESCO Finland
Procedure duration 40 to 49 minutes
3.7
11.2
37
108
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.3
11.0
44
146
ZXE20
NOMESCO Finland
More than three and less than five hours
2.9
10.8
56
216
ZXA00
NOMESCO Finland
Right side
2.5
10.8
78
358
ZXD30
NOMESCO Finland
Difficulties in perfomrming procedure
4.1
10.8
31
82
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.6
10.7
72
318
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
2.7
10.5
63
263
UDQ12
NOMESCO Finland
Flexible laryngoscopy
4.3
10.5
28
70
Z3231
NOMESCO Finland
Registered nurse
2.2
10.4
119
666
ZXA05
NOMESCO Finland
Left side
2.6
10.4
74
336
J01MA14
ATC
moxifloxacin; systemic
3.5
10.3
37
114
UKC02
NOMESCO Finland
Cystoscopy
3.2
10.2
44
153
H65.3
ICD-10 Finland
Chronic mucoid otitis media
3.5
9.9
36
112
R03BB04
ATC
tiotropium bromide; inhalant
3.7
9.9
32
92
ZXD20
NOMESCO Finland
Day surgery
2.8
9.8
53
209
R4120
NOMESCO Finland
Occupational therapy
3.5
9.8
35
108
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
4.1
9.4
27
71
TPH04
NOMESCO Finland
Cathetrisation of vein
2.4
9.4
76
365
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.1
9.2
140
868
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
9.5
9.1
18
20
R4130
NOMESCO Finland
Speech therapy
4.4
9.1
23
55
FM2CE, ,
NOMESCO Finland
4.6
9.0
22
51
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
4.7
9.0
21
47
RL140, ,
NOMESCO Finland
13.0
9.0
15
12
ZXE04
NOMESCO Finland
Procedure duration 30 to 39 minutes
3.2
8.9
36
120
J45.9
ICD-10 Finland
Asthma, unspecified
2.3
8.9
77
381
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.5
8.9
66
305
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.8
8.8
49
196
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.5
8.8
64
293
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
3.6
8.7
30
90
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
9.4
8.6
17
19
Q53.1
ICD-10 Finland
Undescended testicle, unilateral
20.7
8.5
12
6
Q89.00
ICD-10 Finland
Asplenia (congenital)
+∞
8.4
8
*
7593A
ICD-9 Finland
Other and unspecified congenital anomalies, Situs inversus
+∞
8.4
8
*
Q89.32
ICD-10 Finland
Abdominal situs inversus
+∞
8.4
8
*
Q89.21
ICD-10 Finland
Congenital malformation of the thyroid gland
+∞
8.4
8
*
F83
ICD-10 Finland
Mixed specific developmental disorders
4.4
8.3
21
50
F82
ICD-10 Finland
Specific developmental disorder of motor function
6.8
8.3
20
31
WX892
NOMESCO Finland
Monitored bed care
3.1
8.2
36
126
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
17.7
8.1
12
7
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
4.1
8.0
22
56
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
2.3
8.0
74
375
KFH00
NOMESCO Finland
Operation for undescended or ectopic testis
13.5
7.9
13
10
XF600
NOMESCO Finland
Bloodpressure measurement
3.0
7.8
37
135
UGC12
NOMESCO Finland
Flexible bronchoscopy
3.9
7.8
23
62
R03BA01
ATC
beclometasone; inhalant
2.6
7.8
47
196
J01MA12
ATC
levofloxacin; systemic
2.5
7.8
54
241
ZXE11
NOMESCO Finland
Procedure duration 60 to 89 minutes
2.6
7.7
47
197
ZXE30
NOMESCO Finland
More than five and less than seven hours
3.6
7.6
25
73
H52.2
ICD-10 Finland
Astigmatism
4.1
7.6
21
54
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
2.8
7.4
39
151
Q21.10
ICD-10 Finland
Persistent ostium secundum
7.1
7.4
17
25
Q89.20
ICD-10 Finland
Congenital malformation of pituitary gland
+∞
7.3
7
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
3.1
7.3
32
112
ZXE06
NOMESCO Finland
Procedure duration 50 to 59 minutes
2.9
7.3
36
135
T86
ICPC
Hypothyroidism/myxoedema
3.9
7.2
21
56
4730A
ICD-9 Finland
Chronic sinusitis, Maxillary
8.2
7.2
15
19
LC2AE
NOMESCO Finland
Ultrasound examination of uterus and parametria
2.6
7.2
45
191
XX9AW
NOMESCO Finland
Production of copy from X-ray picture
4.0
6.9
20
53
RL130, ,
NOMESCO Finland
8.5
6.9
14
17
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.1
6.8
70
368
Z01.8
ICD-10 Finland
Other specified special examinations
2.1
6.7
78
430
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
2.5
6.7
45
197
M41.4
ICD-10 Finland
Neuromuscular scoliosis
23.1
6.7
9
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.0
6.7
80
447
R31
ICD-10 Finland
Unspecified haematuria
3.0
6.6
30
107
NE1AA
NOMESCO Finland
Pelvis X-ray examination
3.3
6.6
25
80
EBA15
NOMESCO Finland
Extraction of multiple teeth
3.8
6.6
20
55
H60.9
ICD-10 Finland
Otitis externa, unspecified
2.6
6.5
40
168
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.0
6.5
78
436
M41.5
ICD-10 Finland
Other secondary scoliosis
71.2
6.4
7
*
TJD20
NOMESCO Finland
Change of gastrostomy tube
14.7
6.4
10
7
EP1CG
NOMESCO Finland
Extensive MRI examination of soft tissue of neck with high intesity magnet
14.7
6.4
10
7
R03BA02
ATC
budesonide; inhalant
2.1
6.4
70
377
UGC02
NOMESCO Finland
Rigid bronchoscopy
11.3
6.3
11
10
Q89.38
ICD-10 Finland
Another site inversus
+∞
6.3
6
*
Q25.41
ICD-10 Finland
Persistent right-sided aortic arch
+∞
6.3
6
*
H61.2
ICD-10 Finland
Impacted cerumen
2.9
6.2
29
105
4122
FHL
Tympanostomy (tympanic tube)
5.9
6.2
16
28
R03AK06
ATC
salmeterol and fluticasone; inhalant
2.3
6.2
50
238
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
2.1
6.1
70
383
A97
ICPC
No disease
1.9
6.1
84
492
ZXA10
NOMESCO Finland
Bilateral
2.1
6.0
65
348

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
27
10.36
13.48
9.1
2.1
—
—
—
0
0
77
330
2.74
12.31
2.5
2.2
—
—
—
0
0
109
593
2.25
10.19
5.5
4.3
—
—
—
0
0
87
432
2.38
10.06
4.9
3.5
621.47
378.05
ng/l
0.41
52
273
73
343
2.45
9.49
2.7
1.7
—
—
—
0
0
54
224
2.69
9.05
8.9
13.4
0.63
0.42
mmol/l
0.15
47
194
73
353
2.37
8.87
14.1
11.4
—
—
—
0
0
53
227
2.59
8.32
9.3
13.3
7.43
7.42
ph
0.44
23
113
78
400
2.25
8.22
3.7
2.9
13.22
13.91
umol/l
0.40
73
377
87
468
2.17
8.14
5.4
3.5
2.98
2.77
e6/l
0.05
42
229
210
1554
1.97
7.88
9.7
7.7
0.62
0.55
e9/l
2.11
188
1334
19
44
4.52
7.79
1.8
5.1
162.43
170.39
e6/l
0.08
14
31
210
1558
1.96
7.77
9.8
7.7
0.04
0.04
e9/l
0.47
187
1333
20
49
4.28
7.65
2.3
5.0
1614.27
1228.28
e6/l
0.60
15
36
62
297
2.34
7.63
9.3
11.2
104.89
104.82
mmol/l
0.03
62
297
198
1451
1.92
7.48
9.9
7.9
8.71
8.51
%
0.46
193
1396
72
373
2.19
7.34
3.7
2.9
2.54
2.42
g/l
0.87
66
347
197
1447
1.90
7.33
9.9
7.8
2.72
2.95
%
0.69
192
1389
213
1610
1.92
7.20
10.5
8.2
0.19
0.19
e9/l
0.08
190
1411
196
1443
1.89
7.18
10.0
7.9
0.68
0.68
%
0.02
189
1380
223
1716
1.93
7.08
11.9
10.7
4.12
3.86
e9/l
0.93
197
1469
155
1063
1.87
7.07
10.5
7.9
—
—
—
0
0
114
712
1.92
6.92
5.9
4.1
7.39
7.39
ph
0.40
78
498
128
831
1.88
6.89
3.1
2.6
—
—
—
0
0
140
937
1.86
6.84
8.5
7.0
—
—
—
0
0
122
783
1.89
6.79
5.9
3.5
0.22
0.32
e6/l
0.51
89
556
211
1609
1.87
6.72
9.8
7.7
2.10
2.16
e9/l
0.27
190
1426
70
372
2.12
6.65
10.1
9.1
1.74
1.32
mmol/l
0.59
64
307
18
46
4.08
6.53
1.9
4.9
656.31
560.73
e6/l
0.23
13
30
61
311
2.18
6.42
1.3
1.2
—
—
—
0
0
18
35
5.38
6.42
1.5
1.2
—
—
—
0
0
199
1507
1.81
6.31
10.0
7.7
30.65
31.38
%
0.41
194
1467
62
321
2.15
6.28
2.8
1.5
—
—
—
0
0
22
67
3.45
6.26
1.7
1.5
0.92
0.61
g/l
0.40
16
58
110
700
1.86
6.19
2.8
2.6
2.62
2.64
mg/l
0.02
99
608
70
386
2.03
5.99
10.1
8.9
7.37
7.37
ph
0.02
53
240
268
2250
2.03
5.91
5.2
4.2
14.46
14.47
pmol/l
0.03
261
2080
237
1915
1.85
5.83
9.9
7.4
93.24
88.96
u/l
0.51
230
1817
145
1020
1.75
5.75
7.7
5.9
36.83
37.38
g/l
0.52
140
981
151
1078
1.74
5.66
7.7
4.5
27.58
41.44
e6/l
0.39
100
713
163
1189
1.74
5.65
17.3
9.7
1.22
1.22
mmol/l
0.40
156
1112
109
709
1.80
5.63
4.7
3.5
—
0.33
—
0
6
17
47
3.76
5.56
3.1
5.0
36.82
38.59
%
0.17
17
47
128
877
1.75
5.51
4.5
2.9
—
0.00
—
0
10
131
904
1.75
5.50
5.9
3.6
15.85
109.81
e6/l
0.69
98
668
134
936
1.73
5.35
15.8
8.8
1.29
1.13
inr
2.67
111
773
138
975
1.72
5.27
2.2
1.9
—
—
—
0
0
16
35
4.75
5.25
2.3
6.1
0.18
0.24
e9/l
0.51
11
19
34
147
2.46
5.21
12.1
14.0
0.62
0.66
%
0.21
34
147
160
1194
1.66
4.87
3.7
3.0
—
—
estimate
—
0
0
105
702
1.73
4.82
3.5
2.6
—
—
—
0
0
171
1305
1.65
4.72
17.3
9.6
1.21
1.22
mmol/l
0.24
163
1155
71
425
1.86
4.71
9.9
6.4
0.82
0.82
mmol/l
0.10
71
410
16
48
3.45
4.67
2.4
1.8
—
—
—
0
0
16
48
3.45
4.67
2.4
1.8
—
—
—
0
0
16
48
3.45
4.67
2.4
1.8
—
—
—
0
0
16
48
3.45
4.67
2.4
1.8
—
—
—
0
0
62
357
1.91
4.63
22.4
13.2
24.79
24.82
mmol/l
0.03
62
357
290
2568
2.09
4.60
6.0
5.0
1.80
1.85
mu/l
0.31
284
2421
55
307
1.95
4.50
10.8
9.7
24.01
23.72
mmol/l
0.48
55
307
47
249
2.04
4.45
10.7
13.4
1.12
1.28
mmol/l
0.85
47
244
90
592
1.72
4.32
3.7
2.9
5.71
8.39
e6/l
0.91
85
530
47
254
1.99
4.21
18.5
11.2
7.36
7.15
mmol/l
0.09
47
245
90
596
1.70
4.20
3.0
2.5
1.58
1.10
mg/l
0.33
75
449
299
2704
2.16
4.06
25.9
14.6
3.93
3.93
mmol/l
0.05
294
2640
46
253
1.95
3.92
19.3
7.2
—
—
—
0
0
23
95
2.53
3.90
2.7
9.3
—
—
—
0
0
128
945
1.58
3.83
2.1
1.9
101.96
96.93
pmol/l
0.59
74
494
42
227
1.97
3.77
4.2
3.7
68.58
68.07
e9/l
0.04
23
149
31
150
2.18
3.71
12.8
13.6
1.44
1.23
%
0.46
31
150
80
530
1.67
3.69
4.4
2.9
571.13
543.96
mosm/kgh2o
0.44
74
459
25
112
2.33
3.58
4.8
6.3
411.75
447.91
mg/l
0.06
20
64
7
9
7.92
3.57
2.0
2.9
137.57
153.67
ug/g
—
7
9
19
78
2.52
3.28
3.9
2.7
0.67
4.29
index
1.17
12
42
9
19
4.84
3.26
1.8
3.2
150.36
153.89
ug/l
—
9
19
182
1489
1.50
3.22
4.9
3.6
0.00
0.00
estimate
-0.00
18
270
8
15
5.44
3.21
5.5
2.5
—
—
—
0
0
80
553
1.59
3.08
3.5
3.4
332.95
323.64
umol/l
0.31
73
506
27
135
2.09
3.00
3.4
9.6
0.69
0.59
%
0.68
27
135
31
164
1.98
2.97
2.5
2.1
11.08
6.57
u/l
0.60
17
117
178
1475
1.45
2.80
4.7
3.6
0.00
0.00
estimate
-0.00
18
279
26
132
2.05
2.79
1.8
1.2
—
—
—
0
0
177
1467
1.45
2.77
4.7
3.5
0.00
0.00
estimate
-0.00
18
285
149
1196
1.45
2.77
4.5
3.3
6.39
6.26
ph
0.50
66
635
53
341
1.66
2.71
8.4
4.1
11.32
7.40
umol/l
0.46
47
294
49
309
1.69
2.70
19.8
6.9
7.42
7.41
ph
0.78
43
255
31
170
1.91
2.69
2.1
1.9
—
—
—
0
0
41
246
1.76
2.69
2.1
1.9
15.97
19.13
iu/l
0.23
26
190
47
296
1.69
2.60
2.2
1.4
—
—
—
0
0
85
618
1.51
2.58
1.7
1.5
19.10
20.98
nmol/l
0.62
77
534
7
16
4.45
2.48
1.9
3.6
820.57
624.88
u/ml
—
7
16
301
2812
1.83
2.45
23.0
13.0
23.16
21.64
mg/l
0.42
262
2176
307
2886
1.95
2.44
16.6
10.7
—
—
—
0
0
322
3110
2.66
2.23
32.8
20.6
40.13
40.52
%
0.85
322
3080
322
3107
2.71
2.22
31.5
19.9
263.45
260.79
e9/l
0.29
317
3039
37
229
1.69
2.20
3.5
2.1
10.71
12.85
nmol/l
0.83
32
219
11
43
2.61
2.10
1.1
1.3
—
—
—
0
0
322
3111
2.65
2.09
31.7
20.0
134.14
135.94
g/l
1.53
322
3084
16
78
2.11
1.94
2.6
13.8
68.72
66.19
%
0.17
16
78
104
827
1.38
1.90
3.8
3.7
8.20
8.32
mmol/l
0.08
98
730
7
22
3.23
1.89
3.6
2.7
—
—
—
0
0
8
29
2.80
1.80
1.6
2.0
—
—
—
0
0
111
899
1.35
1.80
1.7
1.6
—
—
—
0
0
14
67
2.14
1.78
2.0
1.6
22.71
22.36
ng/l
0.03
14
67
165
1422
1.32
1.73
14.7
10.9
0.00
0.00
e9/l
0.72
127
1126
34
221
1.60
1.70
2.8
2.0
6.10
6.21
ph
0.30
20
134
10
43
2.37
1.60
2.6
4.0
3.66
3.95
mmol/l
—
10
43
127
1068
1.31
1.55
2.1
2.0
1.34
1.35
mmol/l
0.04
119
948
35
236
1.54
1.52
26.9
7.5
9.66
9.61
kpa
0.05
35
230
14
72
1.99
1.51
1.1
3.8
—
—
—
0
0
16
88
1.86
1.44
1.6
1.9
6.78
5.83
iu/l
—
9
36
39
274
1.48
1.41
1.4
1.8
—
—
—
0
0
9
40
2.28
1.41
2.4
3.6
14.60
6.74
pmol/l
—
9
40
21
127
1.70
1.40
1.1
1.6
—
10.08
—
0
5
39
275
1.47
1.39
1.4
1.8
—
—
—
0
0
39
275
1.47
1.39
1.4
1.8
—
—
—
0
0
39
276
1.47
1.37
1.4
1.8
—
—
—
0
0
21
329
0.61
1.36
1.7
1.4
—
—
—
0
0
5
17
2.97
1.36
4.4
3.5
66.40
61.18
umol/l
—
5
17
40
285
1.46
1.36
2.0
1.6
—
—
—
0
0
0
37
0.00
1.35
0.0
11.9
—
6.39
—
0
29
10
47
2.16
1.35
1.1
5.0
—
—
—
0
0
19
113
1.72
1.35
1.1
1.2
—
—
—
0
0
0
40
0.00
1.33
0.0
3.0
—
36.11
—
0
40
52
391
1.39
1.32
1.2
1.3
—
—
—
0
0
29
194
1.54
1.32
1.4
2.4
—
—
—
0
0
53
400
1.39
1.32
2.5
2.3
2.45
2.43
mmol/l
0.68
46
360
9
43
2.12
1.31
1.2
1.2
—
—
—
0
0
28
188
1.53
1.26
1.9
1.5
—
—
—
0
0
9
45
2.03
1.24
2.6
21.2
10.81
11.90
%
—
9
45
21
132
1.63
1.23
1.2
2.1
—
—
—
0
0
75
604
1.31
1.23
3.9
4.3
4.40
8.88
mg/mmol
1.18
51
390
16
93
1.76
1.23
1.4
1.2
—
—
—
0
0
100
839
1.28
1.21
3.4
3.0
2.39
2.37
mmol/l
1.25
94
770
6
26
2.33
1.19
1.0
1.1
—
—
—
0
0
5
20
2.52
1.15
1.8
1.3
—
—
—
0
0
8
40
2.02
1.13
1.1
4.3
—
—
—
0
0
32
228
1.45
1.11
1.4
1.9
—
—
—
0
0
65
522
1.31
1.09
1.3
1.3
29.87
29.22
iu/ml
0.02
18
143
5
21
2.40
1.09
1.0
1.2
—
—
—
0
0
298
2865
1.43
1.08
13.9
10.4
27.35
26.28
u/l
0.26
291
2796
59
469
1.31
1.07
2.2
1.7
—
—
—
0
0
11
60
1.86
1.04
1.1
1.2
8.67
2.42
u/ml
—
6
31
5
22
2.29
1.03
1.2
1.0
—
—
—
0
0
35
259
1.39
1.00
1.4
1.8
—
—
—
0
0
14
84
1.70
0.99
6.1
5.5
36.98
36.94
°c
0.32
14
84
5
23
2.19
0.98
2.2
1.7
—
—
—
0
0
31
226
1.41
0.97
3.1
2.5
134.75
3979.57
u/l
1.42
13
88
98
841
1.24
0.96
2.3
2.3
—
—
—
0
0
38
289
1.36
0.93
1.8
1.5
916.82
1156.00
nmol/l
1.28
33
220
16
102
1.60
0.92
2.0
1.8
—
—
—
0
0
6
28
2.16
0.92
4.2
4.0
2.33
3.19
nmol/l
—
6
28
93
1068
0.82
0.87
2.6
2.7
—
—
—
0
0
23
162
1.45
0.87
1.1
1.1
4.35
5.26
u/ml
0.12
13
123
79
670
1.24
0.86
3.6
3.2
1.02
1.02
kg/l
0.00
52
431
251
2382
1.23
0.83
4.7
4.0
5.70
5.67
mmol/l
0.10
243
2212
8
46
1.76
0.83
2.1
2.1
—
—
—
0
0
14
212
0.65
0.83
4.8
3.5
—
—
—
0
0
16
106
1.54
0.80
1.6
1.8
—
—
—
0
0
53
433
1.27
0.80
1.4
1.4
413.33
438.60
titre
—
6
86
35
270
1.33
0.80
1.5
1.2
61.20
156.31
u/ml
—
5
96
51
415
1.27
0.80
4.0
4.6
2.01
1.70
ug/l
0.38
46
369
71
601
1.23
0.79
3.8
3.7
27.31
63.83
mg/l
1.62
55
401
8
48
1.68
0.79
1.4
1.1
—
—
—
0
0
9
54
1.69
0.75
4.8
3.1
12.66
5.51
u/ml
—
9
54
5
24
2.10
0.75
5.8
2.0
0.80
0.71
index
—
5
24
5
24
2.10
0.75
9.0
1.3
31.20
32.75
pg
—
5
24
14
92
1.54
0.73
1.4
1.3
—
—
—
0
0
9
56
1.62
0.73
1.2
1.1
—
—
—
0
0
15
101
1.51
0.71
1.1
1.3
—
—
—
0
0
24
178
1.38
0.71
1.2
1.2
1.03
3.35
u/ml
1.48
17
122
5
26
1.94
0.71
2.0
1.6
—
—
—
0
0
9
58
1.57
0.70
1.9
1.9
—
—
—
0
0
5
27
1.86
0.68
1.2
1.4
—
—
—
0
0
5
27
1.86
0.68
1.4
1.3
2.54
1.48
nmol/l
—
5
22
101
900
1.18
0.66
1.9
1.6
2.03
2.02
g/l
0.02
62
519
14
95
1.49
0.65
1.6
1.3
—
—
—
0
0
0
20
0.00
0.60
0.0
1.1
—
—
—
0
0
0
20
0.00
0.60
0.0
9.6
—
8.53
—
0
20
0
21
0.00
0.60
0.0
1.1
—
162.32
—
0
21
17
123
1.40
0.59
1.4
2.5
3.22
5.10
iu/ml
—
5
25
76
668
1.18
0.58
4.3
4.8
—
—
—
0
0
21
159
1.34
0.57
1.1
1.2
0.27
0.74
u/ml
1.40
11
107
21
160
1.33
0.55
1.5
1.2
—
—
—
0
0
10
66
1.53
0.53
6.6
8.2
—
—
—
0
0
33
270
1.25
0.52
1.2
1.4
—
—
—
0
0
21
162
1.32
0.51
1.2
1.1
1.01
1.64
u/ml
0.37
16
114
11
156
0.69
0.51
9.1
3.8
1.24
1.23
mmol/l
0.16
11
132
75
669
1.16
0.49
2.2
1.8
—
—
—
0
0
7
46
1.53
0.48
1.6
3.1
5.34
4.30
e9/l
—
7
46
10
68
1.49
0.47
1.2
1.2
—
—
—
0
0
14
103
1.38
0.46
1.1
1.0
4.21
0.23
u/ml
—
6
47
10
69
1.46
0.44
1.7
1.1
—
46.40
—
0
16
7
51
1.38
0.44
1.1
1.1
—
—
—
0
0
9
129
0.69
0.44
1.1
1.1
0.85
0.90
g/l
—
9
129
5
31
1.62
0.43
1.4
1.1
—
—
—
0
0
5
31
1.62
0.43
5.0
5.8
1.65
1.85
ug/l
—
5
31
5
32
1.57
0.42
3.2
3.5
6.98
7.41
mmol/l
—
5
32
21
168
1.27
0.41
1.7
1.7
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
11
79
1.41
0.41
1.1
1.3
—
1.90
—
0
6
0
17
0.00
0.41
0.0
2.6
—
—
—
0
0
15
115
1.32
0.39
2.0
2.2
—
—
—
0
0
5
35
1.44
0.39
1.0
1.2
—
—
—
0
0
29
243
1.21
0.39
3.0
2.8
0.73
0.76
ug/l
0.08
18
133
23
279
0.81
0.39
1.6
1.7
3.79
3.39
mmol/l
0.70
17
189
36
309
1.19
0.38
1.3
1.3
—
—
—
0
0
5
37
1.36
0.37
1.0
1.2
—
—
—
0
0
6
41
1.47
0.36
3.3
3.3
1.75
1.32
mmol/l
—
6
41
13
99
1.33
0.36
1.1
1.2
—
—
—
0
0
9
126
0.71
0.35
1.1
1.1
1.62
1.56
g/l
—
9
126
69
756
0.89
0.35
4.2
3.5
0.00
0.01
estimate
0.74
17
274
13
100
1.31
0.34
1.1
1.2
—
—
—
0
0
25
210
1.21
0.34
1.8
1.6
—
—
—
0
0
7
53
1.33
0.31
1.1
1.1
—
—
—
0
0
54
489
1.12
0.30
1.3
1.3
10.81
6.40
u/ml
0.21
18
187
8
62
1.30
0.28
1.5
2.1
—
—
—
0
0
35
394
0.88
0.27
1.7
1.6
537.69
19308805.50
pmol/l
0.50
29
347
5
71
0.70
0.26
1.6
1.4
—
—
—
0
0
19
160
1.20
0.26
1.5
1.5
71.00
273.26
miu/ml
—
5
86
11
87
1.27
0.24
1.0
1.1
—
—
—
0
0
14
169
0.82
0.24
1.0
1.1
—
—
—
0
0
235
2300
1.08
0.21
4.3
3.7
1.22
1.23
mmol/l
0.05
229
2152
5
42
1.19
0.21
6.0
3.5
—
—
—
0
0
0
11
0.00
0.21
0.0
12.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
2.80
—
0
12
0
12
0.00
0.21
0.0
22.8
—
0.46
—
0
12
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
3.1
—
31.42
—
0
12
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
6.2
—
8.83
—
0
12
0
12
0.00
0.21
0.0
1.2
—
27.75
—
0
12
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
51
1.18
0.19
3.5
1.3
420.83
305.49
mu/l
—
6
45
111
1065
1.06
0.18
3.9
3.2
0.00
0.02
estimate
0.68
17
238
15
174
0.86
0.18
1.1
1.1
—
—
—
0
0
8
73
1.10
0.16
1.3
1.1
—
—
—
0
0
12
105
1.15
0.11
2.0
1.6
5.46
5.63
u/ml
—
5
24
18
198
0.90
0.11
7.6
5.3
1.25
0.61
%
—
8
66
22
202
1.10
0.11
7.2
5.8
0.00
0.22
%
—
9
58
64
666
0.95
0.10
3.3
3.1
—
—
—
0
0
14
125
1.13
0.10
1.1
1.3
—
—
—
0
0
5
45
1.11
0.10
7.0
3.7
—
—
—
0
0
15
165
0.90
0.09
1.5
1.5
0.56
0.25
mg/l
—
8
72
247
2446
1.04
0.08
5.1
4.3
1.43
1.46
mmol/l
0.77
241
2307
6
75
0.80
0.07
5.7
3.2
21.83
2249.59
u/ml
—
6
67
8
75
1.07
0.07
1.3
1.3
50.88
122.85
pmol/l
—
8
69
25
236
1.06
0.06
1.6
2.0
0.00
0.00
estimate
—
5
61
20
213
0.94
0.06
7.7
5.4
0.87
0.79
%
—
8
74
80
782
1.03
0.06
3.7
3.1
17.88
20.06
ng/l
0.19
46
445
11
100
1.10
0.05
1.6
2.3
—
—
—
0
0
17
159
1.07
0.05
2.2
2.5
36.20
34.28
u/ml
0.06
17
152
249
2475
1.02
0.04
5.9
4.7
2.78
2.77
mmol/l
0.01
244
2336
12
111
1.08
0.04
2.0
1.5
—
—
—
0
0
64
652
0.98
0.03
1.6
1.8
—
—
—
0
0
81
798
1.02
0.03
3.4
2.9
0.00
0.01
estimate
0.80
16
229
21
201
1.05
0.03
7.4
5.6
0.13
0.13
%
—
8
61
54
530
1.02
0.02
2.4
2.8
56.57
89.51
ug/g
1.42
47
417
53
539
0.98
0.02
2.0
1.9
—
—
—
0
0
12
113
1.06
0.02
2.3
1.7
—
—
—
0
0
29
284
1.02
0.00
2.1
1.9
—
—
—
0
0
21
205
1.03
0.00
1.4
1.2
—
—
—
0
0
17
174
0.98
0.00
3.6
4.3
2.81
9.92
ug/l
—
9
137
98
975
1.01
0.00
1.4
1.7
4.61
2.31
u/ml
0.26
17
237
6
69
0.87
0.00
1.2
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
9
89
1.01
-0.00
1.7
2.6
61.56
55.37
%
—
9
89
0
5
0.00
-0.00
0.0
3.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
0.03
—
0
7
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
6
60
1.00
-0.00
6.5
3.0
7.39
7.41
ph
—
6
60
0
6
0.00
-0.00
0.0
2.2
—
4.33
—
0
6

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED 2.187 [1.37, 3.49] 0.001
Birth year 1.0 [0.99, 1.01] 0.963

During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 1318 females with Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED 2.337 [1.7, 3.21] < 0.001
Birth year 0.989 [0.98, 1.0] 0.018

During the follow-up period (1.1.1998 — 31.12.2019), 93 out of 1304 males with Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED.

N-year risk Females Males
1 0.212% 0.481%
5 1.422% 2.848%
10 3.576% 6.989%
15 6.823% 13.087%
20 12.109% 21.146%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED – Other congenital malformations, not elsewhere classified

GWS hits: -

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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