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Other congenital malformations of face and neck

EFO MESH Endpoint Browser PheWeb

Q17_OTHER_CONGEN_MALFO_FACE_NECK

Endpoint definition

↥

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — Q18
  • Cause of death: ICD-10 — Q18

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

1134

4. Check minimum number of events

None

1134

5. Include endpoints

None

1134

6. Filter based on genotype QC (FinnGen only)

1134

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
Aliae malformationes congenitae faciei et colli

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 11896 6011 5855
Only index persons 10422 5315 5107
Unadjusted period prevalence (%)
Whole population 0.17 0.17 0.16
Only index persons 0.20 0.20 0.19
Median age at first event (years)
Whole population 23.91 23.25 24.56
Only index persons 27.09 26.22 28.00

-FinnGen-

Key figures

All Female Male
Number of individuals 1134 693 441
Unadjusted period prevalence (%) 0.22 0.24 0.19
Median age at first event (years) 37.58 33.77 43.56

-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

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
1028
Matched controls
10281
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
ENB40
NOMESCO Finland
Excision of branchial cyst or fistula
+∞
323.0
368
*
Q18.0
ICD-10 Finland
Sinus, fistula and cyst of branchial cleft
13495.2
323.0
608
*
Q18.8
ICD-10 Finland
Other specified congenital malformations of face and neck
3887.2
323.0
296
*
Q18.1
ICD-10 Finland
Preauricular sinus and cyst
+∞
172.9
161
*
R22.1
ICD-10 Finland
Localized swelling, mass and lump, neck
20.6
154.3
238
148
ENB50
NOMESCO Finland
Excision of cyst or fistula of thyroglossic duct
558.4
149.6
145
*
EP1AE
NOMESCO Finland
Neck ultrasound examination
8.7
78.5
181
247
DAB20
NOMESCO Finland
Closure of preauricular fistula
+∞
53.6
51
*
EP1DG
NOMESCO Finland
Very extensive examination of soft tissue of neck with high intesity magnet
25.0
35.6
50
21
L02.1
ICD-10 Finland
Cutaneous abscess, furuncle and carbuncle of neck
31.3
34.1
45
15
EP1CG
NOMESCO Finland
Extensive MRI examination of soft tissue of neck with high intesity magnet
14.6
29.1
49
35
WX408
NOMESCO Finland
General anesthesy, balanced
2.3
28.3
324
1697
L04.0
ICD-10 Finland
Acute lymphadenitis of face, head and neck
12.3
25.9
47
40
Q18.9
ICD-10 Finland
Congenital malformation of face and neck, unspecified
+∞
25.1
24
*
Q18.2
ICD-10 Finland
Other branchial cleft malformations
+∞
25.1
24
*
PJD41
NOMESCO Finland
Excision of cervical lymph nodes
13.4
23.1
40
31
Q89.23
ICD-10 Finland
Cyst of the ductus thyreoglossus
81.9
21.8
24
*
QAE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in head or neck
3.7
20.9
97
285
EP2AT
NOMESCO Finland
Neck soft tissue cytology with ultrasound guidance
28.4
18.8
25
9
XW1AT
NOMESCO Finland
Biopsy from other organ close to skin with ultrasound quidance
17.1
16.1
25
15
C77.0
ICD-10 Finland
Secondary and unspecified malignant neoplasm: Lymph nodes of head, face and neck
21.4
16.0
23
11
TDW99
NOMESCO Finland
Other minor procedure in surgery of ear, nose and larynx
4.7
14.3
48
105
EP1CM
NOMESCO Finland
Extensive MRI examination of soft tissue of neck with 3 Tesla magnet
27.6
14.3
19
7
D11.0
ICD-10 Finland
Benign neoplasm: Parotid gland
7.5
14.3
33
45
R59.1
ICD-10 Finland
Generalized enlarged lymph nodes
10.6
13.3
25
24
ZXB10
NOMESCO Finland
Medial
9.5
13.0
26
28
ZXA00
NOMESCO Finland
Right side
1.9
12.9
230
1377
R59.0
ICD-10 Finland
Localized enlarged lymph nodes
4.0
12.8
51
133
C73.91
ICD-10 Finland
Papillary carcinoma of the thyroid gland (thyroid gland)
7.6
12.7
29
39
WX110
NOMESCO Finland
Local anesthesy
1.6
11.2
711
5986
8260/3-C73.9
ICD-O-3
Papillary adenocarcinoma, NOS, of thyroid gland
6.8
10.7
26
39
D18.1
ICD-10 Finland
Lymphangioma, any site
21.7
10.7
15
7
JDB10
NOMESCO Finland
Percutaneous gastrostomy
10.2
10.5
20
20
UJC01
NOMESCO Finland
Scopy of lower throat
8.9
10.3
21
24
D21.0
ICD-10 Finland
Benign neoplasm: Connective and other soft tissue of head, face and neck
19.0
10.3
15
8
WX402
NOMESCO Finland
General anaesthesia
1.8
9.4
172
1029
J01DA01
ATC
[U] cefalexin; systemic
1.5
9.3
591
4865
S04
ICPC
Lump/swelling localized
2.1
9.0
101
503
R22.0
ICD-10 Finland
Localized swelling, mass and lump, head
3.8
9.0
37
101
J01DB01
ATC
cefalexin; oral
1.6
8.7
800
7094
BAA60
NOMESCO Finland
Total thyroidectomy
3.9
8.6
34
90
D34
ICD-10 Finland
Benign neoplasm of thyroid gland
9.1
8.5
17
19
504
Kela drug reimbursment
Conditions requiring daily forced enteral nutrition
6.5
8.5
21
33
ZXA05
NOMESCO Finland
Left side
1.7
8.4
205
1336
R22.9
ICD-10 Finland
Localized swelling, mass and lump, unspecified
2.3
8.4
78
357
H03AA01
ATC
levothyroxine sodium; systemic
1.7
8.0
188
1209
4CJ01
NOMESCO Finland
NA
22.2
8.0
11
5
C09.0
ICD-10 Finland
Malignant neoplasm: Tonsillar fossa
22.2
8.0
11
5
M01AE03
ATC
ketoprofen; systemic, rectal
1.5
7.8
305
2231
ENA32
NOMESCO Finland
Incision of deep pharyngeal infection
15.2
7.7
12
8
EP1AT
NOMESCO Finland
Punction of soft tissue of neck with ultrasound guidance
45.3
7.7
9
*
8070/3-C09.9
ICD-O-3
Squamous cell carcinoma, NOS, of tonsil, NOS
25.2
7.6
10
*
EN1BD
NOMESCO Finland
Very extensive CT examination of mouth and soft tissues of neck
5.1
7.4
22
44
ELB40
NOMESCO Finland
Partial parotidectomy
6.3
7.3
18
29
JN5PN
NOMESCO Finland
Isotope imaging of secondary neoplasms of thyroid origin
8.0
7.1
15
19
UDH02
NOMESCO Finland
Rhinopharyngoscopy
2.2
7.0
71
339
PJD81
NOMESCO Finland
Excision of lymph nodes from upper part of neck
9.4
6.8
13
14
PJD71
NOMESCO Finland
Extended sparing excision of cervical lymph nodes
8.8
6.6
13
15
QX4AT
NOMESCO Finland
Ultrsound guided needle biopsy of skin
10.1
6.5
12
12
JN4KR
NOMESCO Finland
Whole body very extensive metabolic PET with CT
11.1
6.3
11
10
EP1BG
NOMESCO Finland
MRI examination of soft tissue of neck with high intesity magnet
18.1
6.3
9
5
BA3AT
NOMESCO Finland
Cytology of thyroid with ultrasound quidance
4.4
6.3
21
49
EMB10
NOMESCO Finland
Tonsillectomy
1.9
6.3
83
446
BA1NN
NOMESCO Finland
I-131 dose capsel measurement
26.8
6.2
8
*
104
Kela drug reimbursment
Thyroid insufficiency
2.3
6.2
56
256
E89.01
ICD-10 Finland
Postsurgical hypothyroidism
4.3
6.1
21
50
QAA10
NOMESCO Finland
Incision of skin of head or neck
12.6
6.1
10
8
QAE99
NOMESCO Finland
Other excision or repair surgery of skin and subcutaneous tissue in head and neck
4.2
6.0
21
51

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
117
200
6.41
66.72
1.3
1.2
—
—
—
0
0
31
46
6.90
20.04
10.5
7.8
—
—
—
0
0
188
1070
1.91
13.41
1.2
1.2
—
—
—
0
0
38
99
3.94
13.14
8.7
4.2
32.1
105.4
u/ml
1.07
13
31
447
3493
1.46
8.49
2.0
2.0
—
—
—
0
0
810
7223
1.42
6.59
4.4
3.9
14.9
14.5
pmol/l
4.07
735
6660
424
3435
1.37
6.01
6.0
6.0
1.2
1.2
mmol/l
0.85
381
3138
614
5292
1.35
5.75
7.9
8.7
4.1
4.0
e9/l
0.13
538
4657
406
3286
1.37
5.73
4.9
5.0
36.6
36.6
g/l
0.06
372
3089
462
3823
1.35
5.63
6.9
6.7
1.2
1.2
mmol/l
0.46
391
3245
99
605
1.70
5.49
4.7
3.2
4.7
4.7
pmol/l
0.28
85
538
979
9148
1.51
5.40
13.1
12.5
139.6
139.6
mmol/l
0.02
957
8909
981
9185
1.50
5.20
13.5
12.5
3.9
3.9
mmol/l
0.35
957
8930
731
6522
1.34
5.15
3.8
3.8
10.0
10.1
mm/h
0.07
679
6093
996
9381
1.51
4.85
12.8
11.6
21.8
21.6
mg/l
0.05
791
7204
564
4898
1.30
4.58
4.6
4.5
6.6
6.5
mmol/l
0.24
518
4495
1038
9910
1.56
4.22
12.1
10.6
—
—
—
0
0
547
4771
1.28
4.14
5.9
5.9
2.0
2.0
e9/l
0.44
490
4283
492
4247
1.28
4.01
4.3
4.0
—
—
—
0
0
1096
10632
1.92
3.93
18.4
16.9
262.0
256.2
e9/l
2.33
1074
10389
909
8500
1.35
3.92
5.4
4.5
2.0
2.0
mu/l
0.09
848
7946
1097
10650
1.92
3.84
18.6
17.0
136.9
136.8
g/l
0.17
1087
10526
1096
10640
1.90
3.79
18.4
16.8
90.1
90.1
fl
0.17
1087
10522
1096
10641
1.89
3.78
18.4
16.8
30.1
30.1
pg
0.09
1087
10522
1096
10642
1.89
3.76
18.4
16.9
4.6
4.6
e12/l
0.08
1076
10388
1096
10646
1.88
3.69
18.5
16.9
6.9
6.7
e9/l
1.61
1077
10387
524
4592
1.26
3.66
6.0
5.9
0.6
0.6
e9/l
0.48
463
4041
542
4772
1.26
3.63
6.2
6.3
0.2
0.2
e9/l
0.32
481
4269
156
1159
1.40
3.58
1.8
2.0
—
—
—
0
0
688
6236
1.26
3.56
4.0
3.9
—
—
—
0
0
355
2978
1.28
3.54
6.4
6.0
—
—
—
0
0
33
166
2.02
3.47
1.3
1.1
—
—
—
0
0
473
4116
1.26
3.45
9.1
8.4
0.0
0.0
e9/l
0.08
392
3371
482
4204
1.25
3.45
6.2
6.0
0.7
0.7
%
0.89
445
3966
523
4610
1.25
3.39
6.0
6.0
0.0
0.0
e9/l
0.79
462
4057
510
4493
1.25
3.29
6.0
5.8
55.6
56.3
%
0.72
472
4265
515
4553
1.24
3.19
6.2
5.9
30.3
29.2
%
1.60
478
4309
492
4350
1.23
2.98
6.2
6.0
2.8
2.8
%
0.03
456
4097
252
2070
1.28
2.91
2.4
2.5
4131.6
4647.8
umol/l
0.07
225
1838
493
4379
1.22
2.81
6.4
6.2
8.3
8.3
%
0.02
455
4157
127
952
1.38
2.78
1.2
1.3
—
—
—
0
0
642
5871
1.22
2.69
4.2
3.9
2916.3
512.3
e6/l
—
8
76
479
4261
1.21
2.65
6.3
6.0
11.9
11.1
umol/l
0.55
449
4024
707
6539
1.22
2.59
7.2
7.0
75.4
77.1
u/l
0.46
660
6163
56
365
1.56
2.53
1.8
1.7
—
—
—
0
0
266
2238
1.25
2.49
4.7
3.8
7.4
7.4
ph
1.18
51
419
237
1968
1.26
2.49
3.7
4.0
—
—
—
0
0
96
707
1.39
2.37
2.1
2.2
11.8
12.9
nmol/l
0.71
84
638
303
2602
1.22
2.33
2.6
2.5
63.1
55.7
u/l
0.63
281
2420
337
2929
1.21
2.30
6.3
7.0
1.1
1.2
inr
0.73
107
924
195
1600
1.26
2.26
1.2
1.3
15.7
26.4
iu/ml
1.97
51
490
92
680
1.38
2.23
2.1
2.2
3306.3
4301.3
u/l
0.24
40
273
320
2775
1.21
2.22
2.4
2.2
—
—
—
0
0
250
2115
1.23
2.21
2.5
2.2
—
—
—
0
0
96
717
1.37
2.19
4.3
4.0
—
—
—
0
0
50
330
1.54
2.17
1.1
1.2
—
—
—
0
0
89
658
1.38
2.16
1.3
1.4
—
—
—
0
0
858
8150
1.22
2.14
14.7
14.1
13.4
13.5
%
1.46
839
7994
86
635
1.38
2.11
3.8
4.2
0.5
0.5
%
0.12
15
145
1017
9855
1.31
2.05
9.3
9.1
27.4
27.2
u/l
0.09
983
9559
5
11
4.56
1.94
1.2
1.0
—
—
—
0
0
265
2286
1.21
1.93
5.3
6.4
—
—
—
0
0
18
92
1.97
1.90
1.2
1.3
—
—
nmol/l
—
0
0
244
2092
1.21
1.89
3.3
3.3
—
—
—
0
0
87
658
1.35
1.87
4.0
4.5
0.0
0.1
%
5.07
17
186
39
253
1.56
1.86
1.9
1.9
5.1
5.3
iu/l
0.06
13
90
74
546
1.38
1.85
1.3
1.2
—
—
—
0
0
923
8876
1.21
1.79
3.9
3.8
4.7
4.7
mmol/l
0.51
876
8385
82
624
1.34
1.71
4.2
4.6
0.0
0.1
%
1.27
15
156
931
8979
1.21
1.65
4.2
4.1
2.8
2.8
mmol/l
0.17
875
8429
33
214
1.56
1.61
6.3
8.4
1.1
1.2
mmol/l
0.42
27
185
277
2438
1.18
1.60
3.3
3.3
8.3
8.2
mmol/l
0.01
234
2091
265
2325
1.18
1.59
3.6
3.5
0.0
0.0
estimate
1.08
98
850
48
339
1.43
1.57
2.4
2.2
—
—
—
0
0
88
686
1.31
1.57
1.3
1.3
126.8
245.6
u/ml
1.93
81
640
884
8498
1.18
1.56
3.5
3.5
1.3
1.3
mmol/l
0.46
829
7992
135
1113
1.24
1.54
1.1
1.2
—
—
—
0
0
35
233
1.52
1.53
3.1
2.4
—
—
—
0
0
0
42
0.00
1.52
0.0
1.0
—
—
—
0
0
916
8840
1.19
1.51
3.9
3.8
1.4
1.5
mmol/l
1.09
862
8321
65
488
1.35
1.50
2.8
3.0
172.6
162.1
ng/l
0.08
56
431
88
691
1.30
1.50
4.0
4.4
0.2
0.9
%
4.22
17
203
228
1989
1.18
1.46
3.8
3.4
401.1
227.3
mg/l
0.22
153
1331
7
28
2.51
1.45
1.7
1.7
—
—
—
0
0
257
2268
1.17
1.44
1.9
2.1
245.8
248.5
u/l
0.01
240
2147
54
397
1.38
1.43
6.2
8.4
25.2
24.5
mmol/l
0.56
48
374
238
2089
1.18
1.42
4.7
4.1
14.7
10.7
mg/mmol
0.30
156
1368
27
173
1.57
1.41
2.3
2.5
114.9
110.6
ug/min
0.02
16
105
52
384
1.37
1.35
1.3
1.3
—
—
—
0
0
182
1568
1.19
1.35
1.5
1.6
118125429.2
28171515.5
pmol/l
0.54
160
1356
615
5791
1.14
1.34
3.1
3.2
—
—
—
0
0
14
75
1.88
1.34
1.5
1.5
69.0
61.3
pmol/l
—
6
22
237
2091
1.17
1.33
4.5
4.2
2.3
2.0
ug/l
0.45
212
1896
151
1284
1.20
1.30
2.3
2.8
2.9
2.6
e6/l
0.16
87
687
18
106
1.71
1.30
1.2
1.3
—
0.5
nmol/l
—
0
6
886
8566
1.16
1.25
4.0
3.8
5.9
5.8
mmol/l
0.81
825
7954
13
70
1.87
1.24
1.2
2.5
11.4
13.7
%
—
7
40
25
163
1.55
1.23
8.6
2.8
—
—
—
0
0
87
702
1.26
1.23
5.0
4.0
1.7
1.8
mmol/l
0.06
67
556
480
4473
1.13
1.20
4.6
4.4
0.0
0.0
estimate
0.50
100
866
83
671
1.26
1.17
8.1
9.5
96.0
96.1
%
0.06
78
649
477
4457
1.12
1.13
3.3
3.2
0.0
0.0
estimate
0.00
99
849
7
30
2.34
1.12
1.3
1.1
—
—
—
0
0
248
2225
1.15
1.12
4.6
4.5
—
—
—
0
0
7
31
2.27
1.10
1.3
1.3
—
—
—
0
0
482
4511
1.12
1.10
3.4
3.2
0.0
0.0
estimate
0.50
99
833
304
2768
1.13
1.10
2.1
2.0
—
—
—
0
0
12
66
1.83
1.09
1.3
1.2
—
—
—
0
0
87
715
1.23
1.07
2.0
2.7
10.3
10.5
g/l
0.29
82
654
35
253
1.40
1.07
6.2
7.2
0.9
0.9
%
0.01
30
238
223
1993
1.15
1.06
3.1
3.2
—
—
—
0
0
174
1527
1.16
1.06
1.3
1.3
8.9
10.4
u/ml
0.10
61
621
933
9087
1.15
1.04
13.0
12.3
40.7
40.5
%
0.38
743
7292
67
537
1.26
1.03
5.4
3.1
85.3
72.9
e9/l
0.86
52
404
169
1487
1.16
1.00
1.5
1.5
—
—
—
0
0
9
48
1.88
1.00
1.0
1.1
1452.2
1546.7
miu/ml
—
9
48
16
99
1.62
1.00
1.1
1.3
—
—
—
0
0
812
7848
1.12
0.99
5.1
4.8
38.8
38.6
mmol/mol
0.29
756
7406
9
49
1.84
0.98
1.0
1.1
—
—
—
0
0
66
533
1.25
0.97
3.7
4.4
82.7
79.6
ng/l
0.09
61
483
156
1370
1.16
0.96
2.6
2.5
154.1
119.2
ug/g
0.46
138
1092
117
1004
1.18
0.95
1.4
1.4
—
—
—
0
0
21
141
1.50
0.95
8.5
10.5
9.8
11.3
mmol/l
1.09
16
128
270
2464
1.13
0.94
1.3
1.3
1.5
1.7
u/ml
0.08
76
667
7
37
1.90
0.94
1.1
1.1
—
10.4
—
0
9
21
142
1.49
0.92
8.5
10.5
105.2
105.6
mmol/l
0.14
16
129
148
1299
1.16
0.92
1.4
1.4
434.3
516.0
titre
0.14
21
261
13
78
1.67
0.91
1.5
2.1
32.8
32.8
pg
0.01
13
78
17
110
1.55
0.91
1.4
1.6
—
—
—
0
0
222
2009
1.13
0.89
1.6
1.9
1.3
1.0
mg/l
0.44
167
1497
95
806
1.19
0.89
1.2
1.2
109.3
152.5
iu/ml
0.89
40
320
282
2593
1.12
0.87
3.2
3.2
2.3
2.4
mmol/l
0.87
243
2336
141
1240
1.16
0.86
2.5
2.7
0.6
0.7
ug/l
0.57
79
731
35
265
1.33
0.85
4.3
4.7
—
—
—
0
0
51
407
1.26
0.85
1.4
1.4
10.9
8.9
u/l
0.33
42
333
27
196
1.39
0.84
1.3
1.4
22.3
20.5
u/l
0.11
22
164
6
31
1.94
0.84
1.3
1.1
—
—
—
0
0
8
46
1.74
0.82
1.0
1.1
397.9
178.8
iu/ml
—
8
46
257
2358
1.12
0.82
2.7
2.6
—
—
—
0
0
6
32
1.88
0.82
1.0
1.0
—
—
—
0
0
120
1049
1.16
0.80
1.6
1.6
—
—
—
0
0
34
259
1.32
0.80
6.4
7.2
1.8
1.6
%
0.27
29
241
234
2139
1.12
0.80
1.4
1.4
2.3
2.3
g/l
0.06
148
1353
192
1736
1.13
0.79
3.1
3.1
1763.7
999.4
ng/l
0.48
157
1440
0
24
0.00
0.79
0.0
1.1
—
37.1
—
0
16
0
24
0.00
0.79
0.0
1.0
—
—
—
0
0
0
24
0.00
0.79
0.0
1.0
—
—
—
0
0
0
24
0.00
0.79
0.0
1.0
—
—
—
0
0
34
260
1.32
0.78
1.6
2.0
1.9
2.3
ug/l
0.10
25
236
144
1280
1.14
0.77
2.7
2.8
2.4
2.4
mmol/l
0.81
121
1136
6
34
1.77
0.76
1.0
1.2
—
—
—
0
0
16
107
1.50
0.76
1.3
1.8
—
—
—
0
0
10
59
1.70
0.76
1.0
1.0
—
—
—
0
0
14
91
1.55
0.75
1.4
3.9
—
—
—
0
0
20
141
1.43
0.75
1.4
1.3
—
—
—
0
0
13
196
0.66
0.74
1.0
1.1
—
—
—
0
0
45
361
1.26
0.74
3.4
5.0
24.3
24.6
mmol/l
0.27
40
346
23
167
1.39
0.74
2.3
2.2
121.5
132.0
g/l
1.07
16
127
23
167
1.39
0.74
1.0
1.2
—
—
—
0
0
7
38
1.85
0.73
1.1
1.3
116.9
153.8
nmol/l
—
7
38
74
627
1.19
0.73
7.1
9.8
125.6
122.2
g/l
0.71
69
607
37
290
1.29
0.73
6.2
8.7
—
—
—
0
0
88
759
1.17
0.71
8.1
8.8
5.0
5.1
kpa
0.38
81
731
88
759
1.17
0.71
8.1
8.8
11.7
12.8
kpa
1.60
82
734
267
2476
1.10
0.70
3.5
3.0
75.5
89.5
e6/l
0.13
209
1881
5
26
1.93
0.70
4.4
4.3
—
—
—
0
0
69
585
1.19
0.69
1.2
1.2
—
—
—
0
0
24
179
1.35
0.67
1.3
1.6
—
—
—
0
0
63
532
1.20
0.66
3.4
4.4
7.4
7.4
ph
—
8
53
35
277
1.27
0.66
1.1
1.1
0.2
1.8
u/ml
1.93
14
119
77
663
1.17
0.65
1.5
1.6
—
—
—
0
0
10
62
1.62
0.65
2.9
2.8
—
—
—
0
0
114
1012
1.14
0.65
3.0
3.0
7.3
7.8
umol/l
0.10
96
870
111
984
1.14
0.64
1.4
1.3
—
—
—
0
0
158
1433
1.12
0.64
4.2
3.3
184.2
461.2
ng/l
1.26
104
940
5
29
1.73
0.64
1.6
2.2
—
—
—
0
0
303
2843
1.09
0.63
3.0
3.1
43.3
45.1
ng/l
0.04
166
1652
68
582
1.18
0.62
4.9
3.3
1.2
1.2
mmol/l
0.88
60
505
6
104
0.57
0.62
1.0
1.1
—
—
—
0
0
5
30
1.67
0.61
1.0
2.3
—
—
—
0
0
323
3042
1.09
0.61
3.8
3.5
74.1
87.0
e6/l
0.19
227
2041
91
799
1.15
0.61
16.5
17.5
1.3
1.2
inr
0.27
20
121
0
20
0.00
0.60
0.0
1.4
—
—
—
0
0
68
585
1.17
0.59
1.4
1.4
—
—
—
0
0
132
1191
1.12
0.59
2.2
2.4
28.6
29.4
s
1.64
127
1155
86
754
1.15
0.59
8.3
8.9
1.2
0.9
mmol/l
0.25
62
600
63
539
1.18
0.59
3.4
4.4
5.1
5.1
kpa
0.07
58
502
38
309
1.24
0.59
2.4
4.5
0.3
0.3
g/l
0.11
19
149
10
64
1.57
0.58
1.0
1.0
—
—
—
0
0
45
374
1.21
0.57
1.5
1.6
—
—
—
0
0
22
167
1.32
0.57
1.1
1.1
10.5
150.5
iu/ml
—
7
49
16
115
1.40
0.56
1.4
1.2
—
—
—
0
0
16
115
1.40
0.56
1.5
1.8
—
—
—
0
0
14
195
0.71
0.56
1.4
1.2
—
—
—
0
0
11
73
1.51
0.56
1.0
1.1
—
—
—
0
0
73
637
1.16
0.55
8.9
9.1
—
—
—
0
0
61
706
0.86
0.54
1.4
1.9
—
—
—
0
0
31
249
1.25
0.54
1.1
1.1
2.8
6.6
u/ml
1.47
16
148
6
39
1.54
0.53
3.3
2.6
—
—
—
0
0
21
271
0.77
0.52
1.1
1.3
—
976.0
—
0
5
6
97
0.62
0.52
1.3
2.2
—
—
—
0
0
14
100
1.41
0.52
1.2
1.2
—
—
—
0
0
9
64
1.41
0.51
6.1
2.4
12.1
11.7
%
—
9
64
9
65
1.39
0.50
2.0
2.0
—
—
—
0
0
48
408
1.18
0.50
6.2
6.0
—
—
—
0
0
47
399
1.19
0.50
3.9
2.6
0.1
0.2
e6/l
0.39
47
383
43
362
1.20
0.50
11.4
12.1
—
—
—
0
0
126
1153
1.10
0.46
3.0
2.3
2.3
2.4
g/l
0.48
119
1072
29
237
1.23
0.45
2.7
4.1
1.3
1.3
mmol/l
0.19
29
232
63
715
0.87
0.45
1.4
2.0
—
—
—
0
0
236
2225
1.08
0.45
3.2
2.9
—
—
—
0
0
18
231
0.78
0.45
1.2
1.3
3.8
3.1
ug/l
0.36
18
215
238
2245
1.08
0.45
3.2
3.0
0.4
0.3
e6/l
0.24
181
1662
48
555
0.86
0.45
1.3
2.0
—
—
—
0
0
14
186
0.75
0.44
1.0
1.1
—
—
—
0
0
85
943
0.89
0.43
1.6
1.5
—
—
—
0
0
63
712
0.88
0.43
1.4
2.0
—
—
—
0
0
11
78
1.41
0.43
1.2
1.6
—
—
—
0
0
29
239
1.22
0.43
1.1
1.1
0.6
1.6
u/ml
0.75
15
108
5
32
1.56
0.42
1.6
4.3
—
—
—
0
0
17
131
1.30
0.42
2.1
1.4
—
—
—
0
0
10
70
1.43
0.41
1.2
1.0
—
—
—
0
0
0
15
0.00
0.41
0.0
11.3
—
0.4
—
0
15
0
15
0.00
0.41
0.0
2.9
—
4098.8
—
0
15
14
105
1.34
0.41
1.2
1.5
—
—
—
0
0
14
105
1.34
0.41
1.2
1.5
—
—
—
0
0
14
105
1.34
0.41
1.2
1.5
—
—
—
0
0
14
105
1.34
0.41
1.2
1.5
—
—
—
0
0
0
16
0.00
0.41
0.0
4.9
—
46.5
—
0
11
0
16
0.00
0.41
0.0
1.6
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
2.7
—
0
16
114
1048
1.10
0.40
3.1
2.3
22.6
24.1
%
0.50
100
918
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
63
705
0.89
0.38
1.4
2.0
—
—
—
0
0
110
1014
1.09
0.37
7.7
6.2
1.1
1.1
mmol/l
0.08
101
953
182
1714
1.07
0.37
1.9
1.7
—
—
—
0
0
378
3645
1.06
0.36
2.2
2.4
—
—
—
0
0
46
403
1.15
0.36
3.4
4.7
—
—
—
0
0
70
631
1.12
0.36
2.6
4.4
5.3
27.3
ug/l
0.99
53
503
6
42
1.43
0.35
1.7
1.5
—
—
—
0
0
6
42
1.43
0.35
3.3
2.5
—
—
—
0
0
860
8480
1.06
0.34
14.9
14.5
333.4
333.5
g/l
0.10
853
8420
133
1242
1.08
0.34
3.1
2.3
13.0
14.2
umol/l
0.99
127
1160
233
2220
1.06
0.34
1.5
1.6
1.5
1.4
mmol/l
0.62
207
1918
25
209
1.20
0.34
1.2
1.8
3.4
6.7
e6/l
0.61
18
164
25
209
1.20
0.34
1.2
1.8
251.4
664.8
e6/l
0.34
20
170
219
2086
1.06
0.33
2.2
2.1
3.0
2.9
mg/l
0.19
191
1807
23
192
1.20
0.32
1.2
1.8
—
—
—
0
0
11
83
1.33
0.32
2.5
2.3
—
44.9
—
0
9
26
305
0.85
0.31
1.5
2.5
—
—
—
0
0
464
4516
1.05
0.31
3.1
2.8
87.7
96.3
ug/l
0.65
435
4239
10
75
1.34
0.30
1.5
1.3
—
—
—
0
0
60
544
1.11
0.30
3.1
2.3
—
—
—
0
0
36
409
0.88
0.30
1.4
1.4
—
—
—
0
0
60
660
0.90
0.29
1.4
2.1
—
—
—
0
0
84
776
1.09
0.29
5.4
3.3
2.1
1.7
%
1.05
75
705
313
3024
1.05
0.28
1.9
1.8
93.5
96.9
pmol/l
0.73
167
1649
10
129
0.77
0.28
2.3
1.6
—
—
—
0
0
8
63
1.27
0.27
1.4
1.6
—
2065.2
—
0
11
36
318
1.14
0.27
1.1
1.1
—
—
—
0
0
36
406
0.88
0.27
1.4
1.4
—
—
—
0
0
270
2603
1.05
0.27
3.1
2.8
—
—
—
0
0
19
225
0.84
0.26
1.8
2.4
3.3
5.6
umol/l
1.20
11
172
11
86
1.28
0.26
1.5
1.4
297.7
284.8
mosm/kgh2o
—
6
70
84
781
1.08
0.26
5.0
3.3
—
—
—
0
0
74
798
0.92
0.25
1.3
1.3
—
—
—
0
0
13
159
0.82
0.25
1.2
1.2
—
—
—
0
0
5
38
1.32
0.23
1.0
3.8
—
—
—
0
0
5
38
1.32
0.23
1.2
1.8
—
—
—
0
0
5
39
1.28
0.23
1.2
1.5
—
—
—
0
0
66
612
1.08
0.23
3.2
3.3
—
—
—
0
0
132
1257
1.06
0.22
4.1
3.7
0.8
0.8
mmol/l
1.24
121
1193
46
502
0.91
0.21
1.6
2.7
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
3.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
5
43
1.16
0.21
1.4
1.7
—
22.3
—
0
5
0
13
0.00
0.21
0.0
1.2
—
12.9
—
0
6
19
219
0.87
0.20
1.3
1.5
0.3
0.4
nmol/l
0.52
14
184
0
14
0.00
0.20
0.0
1.9
—
—
—
0
0
21
183
1.15
0.20
1.5
1.4
—
—
—
0
0
26
231
1.13
0.19
2.0
1.5
—
—
—
0
0
56
520
1.08
0.19
2.0
2.6
66.8
67.2
g/l
0.12
50
481
38
416
0.91
0.19
1.4
1.5
—
—
—
0
0
11
90
1.22
0.19
2.0
2.7
—
—
—
0
0
11
90
1.22
0.19
1.1
2.0
—
—
—
0
0
21
238
0.88
0.18
1.5
1.3
—
—
—
0
0
174
1679
1.04
0.18
3.4
2.4
6.5
6.8
e6/l
0.11
159
1468
7
58
1.21
0.18
1.3
1.3
—
—
—
0
0
10
121
0.82
0.18
1.2
1.0
—
—
—
0
0
7
61
1.15
0.17
1.1
1.1
—
—
—
0
0
5
66
0.76
0.17
1.4
1.2
—
—
—
0
0
5
67
0.75
0.17
1.0
1.1
—
—
—
0
0
8
68
1.18
0.16
1.0
1.1
—
—
—
0
0
141
1463
0.96
0.16
1.8
1.6
—
—
—
0
0
51
476
1.07
0.16
1.4
1.3
—
—
—
0
0
16
139
1.15
0.16
6.6
2.7
—
—
—
0
0
43
463
0.93
0.16
1.1
1.1
—
—
—
0
0
19
168
1.13
0.15
1.1
1.2
—
—
—
0
0
6
77
0.78
0.15
1.5
1.5
0.9
1.0
g/l
—
6
77
6
77
0.78
0.15
1.2
1.2
—
—
—
0
0
45
419
1.08
0.15
2.3
2.2
—
—
—
0
0
6
80
0.75
0.15
1.2
1.5
1.4
1.3
nmol/l
—
6
73
176
1707
1.04
0.15
1.6
1.4
20.1
20.2
nmol/l
0.04
149
1486
50
469
1.07
0.14
1.2
1.3
192.1
238.2
miu/ml
0.32
16
235
27
246
1.10
0.14
1.0
1.1
0.6
2.8
u/ml
—
7
67
10
118
0.85
0.14
2.2
2.3
—
—
—
0
0
115
1190
0.96
0.13
1.6
1.9
—
—
—
0
0
23
252
0.91
0.12
2.8
3.1
—
—
—
0
0
10
85
1.18
0.12
1.2
1.1
—
—
—
0
0
217
2218
0.97
0.12
1.7
1.7
—
—
—
0
0
13
114
1.14
0.12
1.7
1.5
—
—
—
0
0
10
86
1.16
0.11
2.7
2.1
—
—
—
0
0
15
134
1.12
0.11
3.5
3.0
3.0
34.7
u/ml
0.52
15
121
19
173
1.10
0.10
3.7
4.1
—
—
—
0
0
120
1233
0.97
0.10
1.8
1.7
1174.5
1168.6
nmol/l
0.02
98
949
39
369
1.06
0.09
2.7
3.1
—
—
—
0
0
6
55
1.09
0.09
1.0
2.6
26.4
164.5
ug/l
—
6
49
27
253
1.07
0.08
1.3
1.3
—
—
—
0
0
126
1290
0.97
0.08
1.3
1.3
—
—
—
0
0
5
62
0.81
0.08
1.2
1.1
—
—
—
0
0
5
65
0.77
0.08
1.8
2.2
—
—
—
0
0
7
67
1.05
0.08
1.3
1.3
—
—
—
0
0
7
68
1.03
0.08
1.0
1.3
—
—
—
0
0
12
133
0.90
0.07
1.9
4.2
—
—
—
0
0
6
73
0.82
0.07
1.0
1.2
—
—
—
0
0
17
184
0.92
0.07
1.1
1.1
1.2
6.2
u/ml
—
7
79
23
245
0.94
0.07
1.3
1.5
229.7
307.0
ug/g
—
10
145
7
81
0.86
0.07
3.1
3.2
0.6
0.8
nmol/l
—
7
60
304
3006
1.02
0.07
1.6
1.6
—
—
—
0
0
19
204
0.93
0.07
1.1
1.0
1.1
5.1
u/ml
—
7
81
9
88
1.02
0.07
1.8
3.0
—
—
—
0
0
199
1965
1.02
0.05
3.8
3.4
1.0
1.0
kg/l
0.63
29
263
19
201
0.94
0.04
1.1
1.1
—
—
—
0
0
15
140
1.07
0.04
3.5
2.2
15.4
16.6
%
—
10
71
11
101
1.09
0.04
1.4
1.3
—
—
—
0
0
18
170
1.06
0.04
1.4
1.7
—
—
—
0
0
89
875
1.02
0.04
1.2
1.2
—
—
—
0
0
56
547
1.03
0.04
2.1
2.3
5.2
7.7
ug/l
0.59
45
492
61
599
1.02
0.02
1.3
1.4
20.5
23.4
iu/l
0.33
51
502
18
172
1.05
0.02
1.8
1.7
4569.3
14575.9
e6/l
1.78
12
129
45
442
1.02
0.01
1.1
1.1
—
—
—
0
0
18
173
1.04
0.01
1.1
1.0
1.1
0.5
u/ml
—
5
45
20
193
1.04
0.01
1.5
1.9
—
—
—
0
0
29
283
1.03
0.01
1.0
1.2
—
—
—
0
0
13
126
1.03
0.00
3.2
2.6
—
—
—
0
0
24
242
0.99
0.00
1.0
1.1
—
—
—
0
0
157
1566
1.00
0.00
3.2
2.6
543.9
561.9
mosm/kgh2o
0.41
132
1344
13
129
1.01
0.00
1.1
1.1
1.5
1.4
g/l
0.05
13
117
17
171
0.99
0.00
1.3
1.2
3.6
5.4
u/ml
—
5
74
24
241
1.00
0.00
1.0
1.1
—
—
—
0
0
15
147
1.02
0.00
2.1
2.5
—
—
—
0
0
66
655
1.01
0.00
2.4
2.4
3.8
4.1
e9/l
0.49
54
555
88
885
0.99
0.00
2.8
2.1
356.3
368.8
nmol/l
0.26
78
825
18
175
1.03
0.00
3.7
3.8
35.2
84.3
mg/l
0.70
13
139
13
135
0.96
0.00
1.1
1.3
—
—
—
0
0
15
155
0.97
0.00
4.3
2.8
—
—
—
0
0
18
175
1.03
0.00
3.7
3.8
30.5
30.5
mg/l
0.00
13
139
0
9
0.00
0.00
0.0
4.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
4.3
—
—
—
0
0
0
5
0.00
0.00
0.0
2.4
—
4.4
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
187.3
—
0
6
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
7
79
0.89
0.00
10.7
12.2
0.7
0.6
mmol/l
—
7
74
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
5
49
1.02
0.00
54.4
34.3
8.3
7.3
ug/l
—
5
43
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
276.1
—
0
8
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
7
79
0.89
0.00
2.4
2.4
4.1
4.0
mmol/l
—
7
79
7
79
0.89
0.00
2.4
2.4
—
—
—
0
0
25
250
1.00
0.00
1.7
1.3
278.8
229.9
u/ml
0.43
18
151
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
5
53
0.94
0.00
1.2
1.6
—
—
—
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
1.0
—
—
—
0
0
8
86
0.93
0.00
1.1
1.0
295.3
287.9
mg/l
—
8
78
7
79
0.89
0.00
2.4
2.4
108.3
105.3
mmol/l
—
7
79
0
8
0.00
0.00
0.0
1.9
—
203.5
—
0
8
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
8.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_FACE_NECK and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_FACE_NECK 1.199 [1.01, 1.42] 0.036
Birth year 0.993 [0.98, 1.0] 0.118

During the follow-up period (1.1.1998 — 31.12.2019), 216 out of 5337 females with Q17_OTHER_CONGEN_MALFO_FACE_NECK died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_FACE_NECK 1.171 [1.02, 1.35] 0.028
Birth year 0.989 [0.98, 1.0] 0.032

During the follow-up period (1.1.1998 — 31.12.2019), 325 out of 5174 males with Q17_OTHER_CONGEN_MALFO_FACE_NECK died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_FACE_NECK.

N-year risk Females Males
1 0.091% 0.233%
5 0.666% 1.419%
10 1.657% 3.693%
15 3.203% 6.908%
20 5.583% 11.882%

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CONGEN_MALFO_FACE_NECK – Other congenital malformations of face and neck

GWS hits: 1

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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