No definition available.
Other congenital malformations of face and neck
EFO MESH Endpoint Browser PheWeb
Q17_OTHER_CONGEN_MALFO_FACE_NECK
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
1173 |
4. Check minimum number of eventsNone |
1173 |
5. Include endpointsNone |
1173 |
6. Filter based on genotype QC (FinnGen only) |
1133 |
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
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of face and neck
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
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
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 | 1133 | 685 | 448 |
| Unadjusted period prevalence (%) | 0.23 | 0.24 | 0.21 |
| Median age at first event (years) | 38.50 | 34.96 | 43.92 |
-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
↥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
- 1173
- Matched controls
- 11730
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q18.8
ICD-10 Finland
Other specified congenital malformations of face and neck
+∞
307.7
333
*
ENB40
NOMESCO Finland
Excision of branchial cyst or fistula
5920.2
307.7
409
*
Q18.0
ICD-10 Finland
Sinus, fistula and cyst of branchial cleft
+∞
307.7
697
*
R22.1
ICD-10 Finland
Localized swelling, mass and lump, neck
17.1
302.9
274
205
Q18.1
ICD-10 Finland
Preauricular sinus and cyst
+∞
201.0
187
*
ENB50
NOMESCO Finland
Excision of cyst or fistula of thyroglossic duct
1987.8
174.4
165
*
EP1AE
NOMESCO Finland
Neck ultrasound examination
8.8
149.5
206
276
EP1DG
NOMESCO Finland
Very extensive examination of soft tissue of neck with high intesity magnet
21.3
67.4
51
25
DAB20
NOMESCO Finland
Closure of preauricular fistula
+∞
64.2
61
*
L02.1
ICD-10 Finland
Cutaneous abscess, furuncle and carbuncle of neck
16.6
63.6
54
34
EP1CG
NOMESCO Finland
Extensive MRI examination of soft tissue of neck with high intesity magnet
12.8
62.0
61
50
L04.0
ICD-10 Finland
Acute lymphadenitis of face, head and neck
12.4
57.8
58
49
WX408
NOMESCO Finland
General anesthesy, balanced
2.3
35.8
358
1862
PJD41
NOMESCO Finland
Excision of cervical lymph nodes
7.8
30.7
43
57
Q18.2
ICD-10 Finland
Other branchial cleft malformations
+∞
30.3
29
*
Q18.9
ICD-10 Finland
Congenital malformation of face and neck, unspecified
+∞
30.3
29
*
QAE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in head or neck
3.4
30.1
114
357
Q89.23
ICD-10 Finland
Cyst of the ductus thyreoglossus
99.1
26.8
29
*
D11.0
ICD-10 Finland
Benign neoplasm: Parotid gland
7.8
26.4
37
49
C73.91
ICD-10 Finland
Papillary carcinoma of the thyroid gland (thyroid gland)
8.1
24.4
33
42
8260/3-C73.9
ICD-O-3
Papillary adenocarcinoma, NOS, of thyroid gland
8.0
21.3
29
37
EP2AT
NOMESCO Finland
Neck soft tissue cytology with ultrasound guidance
24.1
18.7
26
11
ZXE10
NOMESCO Finland
More than one and less than three hours
1.8
18.5
393
2570
TDW99
NOMESCO Finland
Other minor procedure in surgery of ear, nose and larynx
3.8
17.7
54
146
ZXB10
NOMESCO Finland
Medial
17.2
17.4
27
16
C77.0
ICD-10 Finland
Secondary and unspecified malignant neoplasm: Lymph nodes of head, face and neck
21.3
17.3
25
12
XW1AT
NOMESCO Finland
Biopsy from other organ close to skin with ultrasound quidance
14.1
17.3
29
21
R22.0
ICD-10 Finland
Localized swelling, mass and lump, head
4.0
16.7
47
120
ZXD10
NOMESCO Finland
Scheduled procedure
1.7
16.4
413
2815
EP1CM
NOMESCO Finland
Extensive MRI examination of soft tissue of neck with 3 Tesla magnet
40.7
16.4
20
5
D18.1
ICD-10 Finland
Lymphangioma, any site
48.2
16.1
19
*
R59.1
ICD-10 Finland
Generalized enlarged lymph nodes
5.8
15.9
29
51
UJC01
NOMESCO Finland
Scopy of lower throat
7.3
15.7
23
32
R59.0
ICD-10 Finland
Localized enlarged lymph nodes
3.3
15.2
58
182
EP1AE, ,
SPAT
3.9
13.4
39
102
BAA60
NOMESCO Finland
Total thyroidectomy
3.7
12.0
38
106
R22.9
ICD-10 Finland
Localized swelling, mass and lump, unspecified
2.1
11.9
116
579
ZXA05
NOMESCO Finland
Left side
1.7
11.7
228
1428
504
Kela drug reimbursment
Conditions requiring daily forced enteral nutrition
5.0
11.7
25
51
WX402
NOMESCO Finland
General anaesthesia
1.7
11.5
244
1565
UDQ12
NOMESCO Finland
Flexible laryngoscopy
2.5
11.5
74
310
J01DA01
ATC
[U] cefalexin
1.5
10.9
670
5477
WX110
NOMESCO Finland
Infiltration anesthesia
1.6
10.7
848
7312
ZXA00
NOMESCO Finland
Right side
1.7
10.7
243
1585
E89.01
ICD-10 Finland
Postsurgical hypothyroidism
4.3
10.6
27
64
EN1BD
NOMESCO Finland
Very extensive CT examination of mouth and soft tissues of neck
4.9
10.5
23
48
EMB10
NOMESCO Finland
Tonsillectomy
2.1
10.2
98
487
UDH02
NOMESCO Finland
Rhinopharyngoscopy
2.2
10.0
83
389
8070/3-C09.9
ICD-O-3
Squamous cell carcinoma, NOS, of tonsil, NOS
40.4
10.0
12
*
ENA32
NOMESCO Finland
Incision of deep pharyngeal infection
20.2
9.8
14
7
J01DB01
ATC
cefalexin; oral
1.6
9.7
947
8448
JDB10
NOMESCO Finland
Percutaneous gastrostomy
7.0
9.3
22
32
M01AE03
ATC
ketoprofen; systemic, rectal
1.5
9.3
336
2438
K11.2
ICD-10 Finland
Sialoadenitis
2.8
9.0
43
155
UDC00
NOMESCO Finland
Ear microscopy
2.1
8.9
87
435
D21.0
ICD-10 Finland
Benign neoplasm: Connective and other soft tissue of head, face and neck
10.8
8.8
16
15
BA3AT
NOMESCO Finland
Cytology of thyroid with ultrasound quidance
4.0
8.6
24
61
C09.0
ICD-10 Finland
Malignant neoplasm: Tonsillar fossa
16.4
8.6
13
8
EP1AT
NOMESCO Finland
Punction of soft tissue of neck with ultrasound guidance
27.7
8.5
11
*
D34
ICD-10 Finland
Benign neoplasm of thyroid gland
6.8
8.4
20
30
S04
ICPC
Lump/swelling localized
1.8
8.3
124
715
ZXE00
NOMESCO Finland
One hour or less
1.5
8.2
413
3191
QAA05
NOMESCO Finland
Incision for biopsy of skin of head or neck
4.1
8.1
22
55
H03AA01
ATC
levothyroxine sodium; systemic
1.6
7.9
222
1515
C01
ICD-10 Finland
Malignant neoplasm of base of tongue
45.3
7.7
9
*
JN5PN
NOMESCO Finland
Isotope imaging of secondary neoplasms of thyroid origin
8.9
7.6
15
17
104
Kela drug reimbursment
Thyroid insufficiency
2.2
7.5
64
303
PJD81
NOMESCO Finland
Excision of lymph nodes from upper part of neck
10.1
7.5
14
14
ENB99
NOMESCO Finland
Other excision of pharynx and adjacent structures
80.6
7.4
8
*
QAE99
NOMESCO Finland
Other excision or repair surgery of skin and subcutaneous tissue in head and neck
3.5
7.4
25
73
Q17.2
ICD-10 Finland
Microtia
+∞
7.3
7
*
4CJ01, ,
NOMESCO Finland
15.9
7.2
11
7
ELB40
NOMESCO Finland
Partial parotidectomy
5.5
6.9
19
35
J01FF01
ATC
clindamycin; systemic
1.5
6.8
265
1934
QAA10
NOMESCO Finland
Incision of skin of head or neck
12.3
6.6
11
9
N02BE01
ATC
paracetamol; systemic, rectal
1.5
6.5
959
8798
E04.2
ICD-10 Finland
Nontoxic multinodular goitre
2.7
6.4
33
124
8070/3-C01.9
ICD-O-3
Squamous cell carcinoma, NOS, of base of tongue, NOS
70.2
6.4
7
*
Z01.8
ICD-10 Finland
Other specified special examinations
1.5
6.4
219
1557
PJD71
NOMESCO Finland
Extended sparing excision of cervical lymph nodes
8.2
6.3
13
16
QX4AT
NOMESCO Finland
Ultrsound guided needle biopsy of skin
9.3
6.3
12
13
ELB30
NOMESCO Finland
Excision of submandibular gland
7.1
6.2
14
20
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
121
205
6.47
69.62
1.3
1.2
—
—
—
0
0
39
101
3.96
13.59
8.7
4.3
32.05
105.44
u/ml
1.07
13
31
841
7487
1.44
7.03
4.4
3.9
14.87
14.50
pmol/l
4.14
761
6903
438
3562
1.37
6.00
6.0
6.1
1.21
1.22
mmol/l
1.03
397
3274
1015
9458
1.54
5.99
13.1
12.5
139.60
139.60
mmol/l
0.03
992
9217
634
5465
1.35
5.91
8.0
8.7
4.03
4.03
e9/l
0.02
555
4812
1017
9498
1.53
5.75
13.4
12.6
3.93
3.94
mmol/l
0.49
992
9240
419
3412
1.35
5.60
4.9
4.9
36.68
36.55
g/l
0.16
385
3210
477
3964
1.34
5.56
6.9
6.6
1.21
1.21
mmol/l
0.46
406
3390
101
623
1.68
5.41
4.6
3.2
4.68
4.65
pmol/l
0.11
87
553
757
6764
1.34
5.21
3.8
3.8
9.89
10.07
mm/h
0.15
704
6316
1030
9708
1.50
4.90
12.8
11.6
21.77
21.55
mg/l
0.07
818
7462
584
5060
1.31
4.86
4.5
4.6
6.62
6.49
mmol/l
0.46
538
4655
512
4380
1.30
4.60
2.7
2.5
—
—
—
0
0
943
8812
1.36
4.14
5.4
4.5
2.00
1.95
mu/l
0.09
877
8242
323
2643
1.31
3.92
1.7
1.7
—
—
—
0
0
1133
11004
1.87
3.80
18.4
16.9
261.15
256.24
e9/l
1.83
1111
10753
1134
11022
1.87
3.71
18.6
17.0
136.88
136.75
g/l
0.12
1124
10893
1132
10997
1.84
3.70
18.5
17.0
40.81
41.01
%
0.17
1083
10435
1133
11014
1.84
3.63
18.4
16.8
4.56
4.56
e12/l
0.01
1113
10752
530
4653
1.25
3.57
6.1
5.7
55.38
56.36
%
1.11
495
4422
535
4711
1.25
3.48
6.3
5.9
30.46
29.14
%
2.13
501
4482
37
194
1.94
3.46
1.4
1.4
—
—
—
0
0
1132
11017
1.79
3.38
18.4
16.9
6.85
6.70
e9/l
1.46
1113
10750
404
3471
1.25
3.21
9.1
10.4
1.12
1.17
inr
0.90
126
1093
735
6759
1.23
3.02
7.2
7.0
75.61
76.99
u/l
0.36
688
6377
918
8661
1.28
2.97
14.4
13.9
14.46
14.36
%
0.22
901
8525
497
4399
1.23
2.93
6.2
6.0
11.89
11.04
umol/l
0.60
468
4165
262
2174
1.26
2.76
2.4
2.1
—
—
—
0
0
316
2688
1.24
2.67
2.5
2.5
62.85
58.28
u/l
0.34
295
2502
255
2131
1.25
2.52
2.4
2.5
4001.84
4664.99
umol/l
0.09
233
1908
13
52
2.52
2.36
1.2
1.6
—
76.50
%
—
0
8
78
557
1.43
2.29
1.6
1.6
—
—
—
0
0
658
6075
1.19
2.27
4.2
3.9
2916.25
499.17
e6/l
—
8
78
98
732
1.37
2.23
2.0
2.2
11.65
12.82
nmol/l
0.77
88
668
1053
10197
1.32
2.20
9.3
9.0
27.61
27.13
u/l
0.22
1018
9887
925
8839
1.22
2.07
11.7
10.1
90.16
90.16
ml/min/173m2
0.00
763
7145
93
704
1.35
1.97
2.1
2.2
3306.29
4289.15
u/l
0.23
40
281
47
319
1.49
1.83
1.2
1.3
—
—
—
0
0
69
504
1.39
1.83
2.8
2.9
167.60
158.61
ng/l
0.07
60
447
196
1653
1.22
1.78
1.2
1.3
15.33
27.38
iu/ml
2.51
54
518
14
69
2.04
1.65
1.2
2.6
—
—
—
0
0
91
709
1.31
1.62
1.3
1.3
123.89
243.83
u/ml
2.06
84
661
951
9184
1.19
1.53
3.9
3.8
4.66
4.70
mmol/l
0.51
901
8685
266
2342
1.18
1.52
1.9
2.1
524.01
248.49
u/l
0.46
248
2215
39
267
1.48
1.50
1.9
2.0
5.10
5.07
iu/l
0.01
13
98
120
979
1.25
1.50
4.3
3.8
31.89
31.53
%
0.13
87
709
912
8784
1.17
1.48
3.5
3.5
1.30
1.27
mmol/l
0.40
854
8252
51
370
1.40
1.46
1.8
1.7
—
—
—
0
0
960
9292
1.18
1.43
4.2
4.1
2.81
2.82
mmol/l
0.21
901
8732
91
723
1.28
1.42
4.9
4.1
2.06
1.73
mmol/l
0.32
74
588
225
1966
1.18
1.41
2.3
2.1
—
—
—
0
0
286
2548
1.16
1.41
3.3
3.3
8.14
8.23
mmol/l
0.11
242
2207
353
3194
1.15
1.41
3.0
3.3
31.18
31.75
u/l
0.13
339
3052
56
416
1.36
1.40
6.1
8.4
25.12
24.53
mmol/l
0.51
51
397
164
1396
1.20
1.38
2.3
2.6
0.83
0.92
e6/l
0.13
101
776
245
2160
1.17
1.38
2.4
2.3
—
—
—
0
0
236
2076
1.17
1.36
3.8
3.3
388.60
246.87
mg/l
0.18
158
1404
247
2185
1.17
1.33
4.5
3.9
14.30
10.50
mg/mmol
0.28
161
1435
189
1638
1.18
1.31
1.5
1.6
113174076.32
26958790.05
pmol/l
0.54
167
1417
272
2428
1.16
1.30
3.6
3.5
0.00
0.01
estimate
1.08
100
882
14
76
1.85
1.30
1.5
1.5
154.70
183.28
pmol/l
0.35
14
76
102
833
1.25
1.29
1.2
1.2
118.17
151.52
iu/ml
0.60
42
334
944
9146
1.16
1.29
3.9
3.8
1.43
1.45
mmol/l
1.08
887
8617
13
69
1.89
1.29
1.2
1.1
—
—
—
0
0
29
194
1.51
1.27
1.1
1.3
—
—
—
0
0
244
2164
1.16
1.27
4.5
4.2
2.32
2.02
ug/l
0.44
217
1963
27
178
1.53
1.27
2.3
2.3
114.93
107.68
ug/min
0.03
16
108
917
8874
1.15
1.23
4.0
3.8
5.86
5.78
mmol/l
0.81
852
8240
14
78
1.80
1.21
1.1
1.6
—
—
—
0
0
707
6746
1.12
1.14
3.0
3.0
43.56
42.94
u/l
0.06
667
6411
154
1329
1.18
1.14
2.4
2.8
2.99
2.77
e6/l
0.11
89
714
70
557
1.27
1.12
3.6
4.3
83.19
78.59
ng/l
0.14
65
505
18
111
1.63
1.12
1.2
1.3
—
0.44
nmol/l
—
0
7
246
2205
1.15
1.12
1.4
1.4
2.29
2.25
g/l
0.12
155
1396
19
120
1.59
1.09
1.4
1.4
—
—
—
0
0
19
120
1.59
1.09
1.4
1.4
—
—
—
0
0
13
74
1.77
1.07
1.2
1.4
116.62
73.57
umol/l
0.47
13
74
841
8121
1.13
1.06
5.0
4.8
38.87
38.57
mmol/mol
0.37
782
7664
99
828
1.21
1.04
6.2
4.4
223.19
233.53
u/l
0.59
93
795
280
2547
1.13
1.02
1.4
1.3
1.80
1.62
u/ml
0.10
78
689
79
648
1.23
1.00
2.1
2.3
74.52
74.39
ml/min/173m2
0.01
25
257
161
1412
1.16
0.99
2.6
2.5
153.64
119.15
ug/g
0.47
142
1127
9
49
1.84
0.98
1.0
1.1
1452.22
1557.45
miu/ml
—
9
49
0
29
0.00
0.97
0.0
1.1
—
—
—
0
0
0
29
0.00
0.97
0.0
1.1
—
—
—
0
0
230
2074
1.14
0.96
1.6
1.9
1.31
1.01
mg/l
0.41
174
1543
492
4633
1.11
0.96
4.6
4.4
0.00
0.00
estimate
0.50
101
900
22
149
1.49
0.96
8.2
10.5
105.24
105.73
mmol/l
0.18
17
135
6
27
2.23
0.93
1.8
1.4
—
—
—
0
0
36
270
1.34
0.91
6.1
7.2
1.75
1.63
%
0.34
31
251
18
118
1.53
0.91
1.4
1.4
—
—
—
0
0
16
102
1.58
0.90
1.1
1.5
—
—
—
0
0
53
421
1.27
0.90
1.4
1.4
10.61
8.96
u/l
0.27
44
345
495
4676
1.10
0.90
3.4
3.2
0.00
0.00
estimate
0.50
101
868
48
377
1.28
0.89
3.3
5.0
24.43
24.65
mmol/l
0.17
43
360
8
43
1.87
0.87
1.1
1.3
—
—
—
0
0
8
43
1.87
0.87
1.1
1.3
—
—
—
0
0
65
532
1.23
0.87
3.2
4.5
1.08
1.55
mmol/l
0.52
46
386
78
651
1.21
0.87
6.9
9.8
125.32
122.53
g/l
0.57
73
636
489
4631
1.10
0.83
3.4
3.2
0.00
0.00
estimate
0.50
106
933
6
115
0.52
0.82
1.3
1.8
—
—
—
0
0
27
197
1.38
0.82
1.3
1.4
22.34
20.57
u/l
0.10
22
164
8
46
1.74
0.82
1.0
1.1
397.88
178.82
iu/ml
—
8
46
11
65
1.70
0.82
1.0
1.0
—
—
—
0
0
30
223
1.35
0.82
2.5
2.7
—
—
—
0
0
166
1484
1.14
0.81
4.1
3.3
176.22
527.06
ng/l
1.78
109
978
21
147
1.44
0.80
1.5
1.4
—
—
—
0
0
40
312
1.29
0.80
1.2
1.1
—
—
—
0
0
77
648
1.20
0.80
1.1
1.1
—
—
—
0
0
92
788
1.18
0.79
8.0
9.1
11.91
12.73
kpa
0.99
86
763
92
788
1.18
0.79
8.0
9.1
5.04
5.12
kpa
0.40
85
760
162
1449
1.14
0.79
1.6
1.8
1.42
1.43
%
0.05
143
1318
38
483
0.78
0.77
1.5
1.8
4.42
3.56
mg/l
0.25
25
341
139
1232
1.15
0.77
1.8
1.8
—
—
—
0
0
291
2697
1.11
0.77
3.2
3.2
2.34
2.35
mmol/l
0.86
255
2436
190
1722
1.12
0.75
3.7
3.8
19.30
20.90
%
0.85
84
717
24
175
1.38
0.75
2.2
2.2
121.50
131.87
g/l
1.06
16
134
5
24
2.09
0.74
1.0
2.5
—
—
—
0
0
118
1038
1.15
0.74
3.0
2.9
7.22
7.72
umol/l
0.12
100
889
18
125
1.45
0.73
1.8
1.3
—
—
—
0
0
17
117
1.46
0.72
1.4
1.4
—
—
—
0
0
174
1576
1.12
0.70
1.3
1.2
8.79
10.28
u/ml
0.10
62
639
17
118
1.45
0.69
1.4
1.4
—
—
—
0
0
17
118
1.45
0.69
1.4
1.4
—
—
—
0
0
138
1235
1.13
0.68
2.1
2.5
28.61
29.49
s
1.79
132
1197
149
1340
1.13
0.68
2.7
2.8
2.42
2.43
mmol/l
1.00
126
1186
7
43
1.63
0.67
2.1
1.7
—
—
—
0
0
7
43
1.63
0.67
2.4
2.3
—
—
—
0
0
7
43
1.63
0.67
2.4
2.3
—
—
—
0
0
321
3013
1.09
0.65
3.4
3.1
—
—
—
0
0
66
561
1.19
0.65
3.3
4.4
5.12
5.11
kpa
0.05
61
540
142
1280
1.12
0.63
2.5
2.7
0.66
0.72
ug/l
0.46
79
752
13
87
1.50
0.63
1.5
2.1
32.77
32.69
pg
0.02
13
87
36
288
1.26
0.63
1.1
1.1
0.39
3.16
u/ml
3.88
20
160
29
226
1.29
0.62
1.9
1.5
—
—
—
0
0
274
2562
1.09
0.61
3.5
3.0
74.10
87.43
e6/l
0.12
214
1950
196
1805
1.10
0.60
3.0
3.1
1722.52
990.33
ng/l
0.47
161
1499
0
20
0.00
0.60
0.0
1.1
—
—
—
0
0
89
782
1.15
0.59
8.2
9.2
1.12
0.97
mmol/l
0.12
66
628
75
651
1.16
0.59
2.7
4.3
5.08
26.53
ug/l
1.01
56
522
34
273
1.25
0.58
1.6
2.0
1.88
2.25
ug/l
0.08
25
248
312
2941
1.08
0.58
3.0
3.1
42.46
44.01
ng/l
0.04
170
1719
121
1089
1.12
0.57
3.2
2.3
22.50
23.99
%
0.54
107
952
6
37
1.62
0.55
2.2
1.7
—
—
—
0
0
390
3714
1.08
0.55
2.3
2.3
74.07
73.93
nmol/l
0.03
351
3414
24
186
1.30
0.54
1.1
1.0
2.58
1.86
u/ml
—
9
84
70
609
1.16
0.54
4.8
3.3
1.22
1.23
mmol/l
0.80
62
528
103
921
1.13
0.54
5.2
7.2
104.36
104.37
mmol/l
0.00
103
921
378
3600
1.07
0.53
3.6
3.2
—
—
—
0
0
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
25
196
1.28
0.53
3.9
4.1
0.26
0.36
u/ml
0.96
14
95
131
1192
1.11
0.52
3.0
2.2
2.34
2.40
g/l
0.54
124
1107
485
4668
1.07
0.50
3.1
2.8
86.79
95.72
ug/l
0.73
455
4376
22
171
1.29
0.50
1.1
1.1
10.49
147.48
iu/ml
—
7
50
140
1284
1.10
0.49
3.1
2.3
13.02
14.13
umol/l
1.01
134
1207
103
930
1.12
0.48
4.8
5.8
—
—
—
0
0
34
408
0.83
0.47
1.3
1.4
—
—
—
0
0
10
68
1.47
0.47
1.1
1.2
—
—
—
0
0
50
431
1.17
0.46
1.8
1.7
—
—
—
0
0
5
85
0.59
0.45
1.0
1.2
—
—
—
0
0
27
219
1.24
0.45
1.2
1.8
228.73
964.48
e6/l
0.62
22
178
27
219
1.24
0.45
1.2
1.7
3.05
6.73
e6/l
0.80
20
172
791
7749
1.06
0.44
3.7
3.6
—
—
—
0
0
10
69
1.45
0.44
1.4
1.2
—
—
—
0
0
6
92
0.65
0.42
1.0
1.1
—
—
—
0
0
230
2172
1.07
0.42
2.2
2.1
2.93
2.87
mg/l
0.11
200
1877
16
123
1.30
0.40
1.7
1.5
—
—
—
0
0
5
34
1.47
0.40
2.2
2.3
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
8
61
1.31
0.39
2.8
2.8
43212.50
39637.79
ug/l
—
8
61
245
2326
1.07
0.39
3.2
2.9
0.44
0.35
e6/l
0.24
188
1741
0
19
0.00
0.39
0.0
1.1
—
—
—
0
0
93
848
1.11
0.38
1.7
1.8
—
—
—
0
0
5
36
1.39
0.38
1.0
2.4
—
—
—
0
0
42
364
1.16
0.38
1.5
1.5
—
—
—
0
0
10
136
0.73
0.37
1.2
1.5
—
—
—
0
0
31
262
1.19
0.37
1.1
1.1
2.83
6.86
u/ml
1.65
16
157
5
37
1.35
0.37
1.2
1.2
—
—
—
0
0
47
412
1.15
0.37
3.9
2.5
0.11
0.15
e6/l
0.37
47
396
25
207
1.21
0.36
1.5
1.6
—
—
—
0
0
55
488
1.13
0.36
1.5
1.4
—
—
—
0
0
91
833
1.10
0.36
1.6
1.7
—
—
—
0
0
327
3142
1.06
0.35
1.9
1.8
94.86
96.81
pmol/l
0.34
179
1708
14
108
1.30
0.35
1.2
1.5
—
—
—
0
0
14
108
1.30
0.35
1.2
1.5
—
—
—
0
0
9
126
0.71
0.35
1.0
1.3
—
—
—
0
0
113
1047
1.09
0.35
7.7
6.1
1.07
1.06
mmol/l
0.08
104
983
10
73
1.37
0.34
1.4
1.3
—
—
—
0
0
16
127
1.26
0.33
1.5
1.5
—
—
—
0
0
139
1302
1.08
0.33
4.0
3.8
0.80
0.82
mmol/l
1.24
128
1241
19
231
0.82
0.32
1.8
2.4
3.29
5.54
umol/l
1.16
11
176
28
238
1.18
0.32
2.8
1.9
—
—
—
0
0
15
119
1.26
0.32
1.7
1.5
—
—
—
0
0
21
174
1.21
0.31
1.0
1.1
—
—
—
0
0
37
325
1.14
0.30
2.1
1.9
—
—
—
0
0
181
1901
0.94
0.29
1.5
1.5
—
—
—
0
0
20
238
0.84
0.29
1.2
1.3
3.76
3.12
ug/l
0.38
20
222
29
251
1.16
0.28
1.1
1.1
0.60
1.52
u/ml
0.72
15
114
88
816
1.08
0.28
2.8
2.8
—
—
—
0
0
8
63
1.27
0.27
1.1
1.6
—
—
—
0
0
29
252
1.15
0.27
2.7
4.0
1.26
1.32
mmol/l
0.17
29
247
28
243
1.16
0.27
1.8
1.6
—
—
—
0
0
18
150
1.20
0.26
1.2
1.5
—
—
—
0
0
18
150
1.20
0.26
1.2
1.5
—
—
—
0
0
91
849
1.08
0.26
2.3
2.6
33.58
94.77
u/l
0.56
85
726
17
142
1.20
0.24
1.6
1.5
—
—
—
0
0
51
465
1.10
0.24
1.6
1.5
—
—
—
0
0
10
78
1.28
0.24
1.8
1.3
—
—
—
0
0
10
78
1.28
0.24
1.3
1.2
0.23
0.82
u/ml
—
5
37
42
379
1.11
0.24
1.5
1.5
—
—
—
0
0
6
83
0.72
0.24
1.2
1.5
1.42
1.33
nmol/l
—
6
76
239
2306
1.05
0.23
1.5
1.6
1.48
1.41
mmol/l
0.56
212
1991
5
38
1.32
0.23
1.2
1.4
—
—
—
0
0
5
38
1.32
0.23
2.4
1.7
—
—
—
0
0
5
38
1.32
0.23
1.2
1.4
—
—
—
0
0
5
39
1.28
0.23
1.0
1.2
—
—
—
0
0
11
88
1.25
0.22
1.2
1.1
—
—
—
0
0
15
125
1.20
0.22
1.4
1.3
—
—
—
0
0
10
79
1.27
0.22
1.4
2.7
60.00
56.45
%
—
10
73
48
524
0.91
0.22
1.3
1.4
—
—
—
0
0
5
41
1.22
0.22
1.6
1.5
—
—
—
0
0
186
1788
1.05
0.22
1.6
1.4
20.00
20.24
nmol/l
0.08
158
1553
48
523
0.91
0.21
1.3
1.4
—
—
—
0
0
45
411
1.10
0.21
1.3
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
8
102
0.78
0.21
1.1
1.6
—
—
—
0
0
48
522
0.92
0.21
1.3
1.4
—
—
—
0
0
19
164
1.16
0.20
1.2
1.3
—
—
—
0
0
19
164
1.16
0.20
1.2
1.3
—
—
—
0
0
48
521
0.92
0.20
1.3
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
27
240
1.13
0.20
5.0
5.0
8.68
8.83
kpa
0.21
27
233
20
229
0.87
0.20
1.3
1.5
0.30
0.38
nmol/l
0.51
14
191
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
6
52
1.15
0.19
1.0
1.2
—
—
—
0
0
103
980
1.06
0.18
1.5
1.5
—
—
—
0
0
14
164
0.85
0.18
2.1
1.8
—
—
—
0
0
22
248
0.88
0.18
1.4
1.5
229.68
306.44
ug/g
—
10
146
121
1158
1.05
0.18
1.5
1.6
—
—
—
0
0
10
121
0.82
0.18
2.2
2.3
—
—
—
0
0
7
60
1.17
0.17
2.4
1.7
—
—
—
0
0
66
620
1.07
0.17
1.3
1.4
21.01
22.93
iu/l
0.21
56
520
23
205
1.12
0.17
1.6
1.6
—
—
—
0
0
5
69
0.72
0.17
2.6
2.5
—
—
—
0
0
37
341
1.09
0.16
2.6
3.0
93.76
92.11
%
0.18
37
328
6
79
0.76
0.15
1.5
1.5
0.85
0.99
g/l
—
6
79
46
491
0.93
0.14
1.7
1.9
—
—
—
0
0
89
929
0.95
0.14
2.8
2.1
357.03
370.65
nmol/l
0.29
79
867
54
572
0.94
0.14
1.4
1.5
—
—
—
0
0
101
1049
0.96
0.13
2.4
1.8
—
—
—
0
0
57
540
1.06
0.13
2.0
2.6
66.70
67.15
g/l
0.16
51
501
28
258
1.09
0.12
1.0
1.1
5.67
1.74
u/ml
0.33
16
141
12
104
1.16
0.12
1.7
1.5
—
—
—
0
0
12
104
1.16
0.12
1.0
1.0
—
—
—
0
0
35
327
1.07
0.11
1.6
1.6
0.32
0.24
iu/ml
—
9
58
14
157
0.89
0.11
1.1
1.1
127.36
114.47
%
0.92
14
143
178
1739
1.03
0.11
3.4
2.4
6.40
6.80
e6/l
0.15
164
1555
16
144
1.11
0.10
1.7
1.6
—
—
—
0
0
10
87
1.15
0.09
1.2
1.1
—
—
—
0
0
10
87
1.15
0.09
1.2
1.1
—
—
—
0
0
10
87
1.15
0.09
1.2
1.1
—
—
—
0
0
10
87
1.15
0.09
1.2
1.1
—
—
—
0
0
11
124
0.89
0.09
1.2
1.1
97.64
93.73
%
0.25
11
113
6
55
1.09
0.09
1.0
2.6
26.38
164.49
ug/l
—
6
49
31
292
1.06
0.08
2.1
1.8
—
—
—
0
0
5
64
0.78
0.08
1.0
1.1
—
43.20
—
0
5
14
154
0.91
0.08
1.0
1.1
—
—
—
0
0
7
64
1.09
0.08
1.6
1.7
—
—
—
0
0
10
88
1.14
0.08
1.2
1.1
—
—
—
0
0
8
77
1.04
0.07
1.3
1.5
—
—
—
0
0
8
77
1.04
0.07
1.3
1.5
—
—
—
0
0
8
77
1.04
0.07
1.3
1.5
—
—
—
0
0
7
80
0.87
0.07
2.4
2.4
108.29
105.38
mmol/l
—
7
80
7
82
0.85
0.07
10.7
12.2
0.66
0.62
mmol/l
—
7
77
9
85
1.06
0.07
1.2
1.2
—
—
—
0
0
9
86
1.05
0.07
1.2
1.2
—
—
—
0
0
9
88
1.02
0.07
1.1
1.0
288.00
291.87
mg/l
—
9
79
23
216
1.07
0.07
1.3
1.2
10.04
30.78
u/ml
—
8
19
10
89
1.12
0.07
1.1
1.1
—
—
—
0
0
16
173
0.92
0.06
1.1
1.1
—
—
—
0
0
51
493
1.04
0.06
1.2
1.3
181.66
240.95
miu/ml
0.46
17
249
58
564
1.03
0.05
2.1
2.3
5.09
7.61
ug/l
0.64
47
508
23
241
0.95
0.04
1.5
1.8
—
—
—
0
0
19
180
1.06
0.04
1.3
1.2
1.83
4.50
u/ml
—
6
60
55
537
1.03
0.04
2.2
1.8
—
—
—
0
0
127
1286
0.99
0.03
1.8
1.7
1157.15
1171.49
nmol/l
0.06
104
989
14
132
1.06
0.02
1.1
1.1
1.44
1.45
g/l
0.01
14
120
19
182
1.04
0.02
1.8
1.7
5924.00
13928.41
e6/l
1.28
13
138
22
228
0.96
0.02
1.4
1.3
—
—
—
0
0
45
459
0.98
0.02
1.2
1.1
—
0.98
—
0
5
26
252
1.03
0.02
1.3
1.2
3.75
13.88
u/ml
—
6
40
17
177
0.96
0.01
1.3
1.2
3.60
5.43
u/ml
—
5
75
27
277
0.97
0.01
1.7
1.3
—
—
—
0
0
41
403
1.02
0.01
2.3
2.1
36.81
39.27
u/l
0.36
36
367
63
637
0.99
0.01
1.4
1.4
—
—
—
0
0
10
94
1.06
0.01
2.0
1.6
—
—
—
0
0
12
114
1.05
0.00
1.0
1.1
—
—
—
0
0
15
144
1.04
0.00
3.5
2.2
15.41
16.73
%
—
10
74
19
184
1.03
0.00
1.0
1.1
—
—
—
0
0
24
246
0.98
0.00
1.2
1.2
—
—
—
0
0
26
266
0.98
0.00
1.7
1.3
264.68
227.53
u/ml
0.31
19
159
10
104
0.96
0.00
1.8
1.5
—
—
—
0
0
41
412
0.99
0.00
1.5
1.7
—
—
—
0
0
12
119
1.01
0.00
1.0
1.1
—
—
—
0
0
29
289
1.00
0.00
1.0
1.1
—
—
—
0
0
29
291
1.00
0.00
1.0
1.2
—
—
—
0
0
67
671
1.00
0.00
1.4
1.3
—
—
—
0
0
10
97
1.03
0.00
7.6
1.9
—
—
—
0
0
10
103
0.97
0.00
1.0
1.1
—
—
—
0
0
11
107
1.03
0.00
1.0
1.1
—
—
—
0
0
11
107
1.03
0.00
1.2
1.1
—
—
—
0
0
130
1303
1.00
0.00
2.4
2.0
—
—
—
0
0
205
2055
1.00
0.00
3.7
3.4
1.02
1.02
kg/l
0.48
33
281
19
185
1.03
0.00
3.5
3.6
29.61
29.95
mg/l
0.02
14
147
21
205
1.02
0.00
1.7
1.4
—
—
—
0
0
19
185
1.03
0.00
3.5
3.6
34.93
80.81
mg/l
0.69
14
147
0
5
0.00
0.00
0.0
2.0
—
1.46
—
0
5
7
75
0.93
0.00
2.4
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
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
18
180
1.00
-0.00
1.1
1.0
0.94
0.39
u/ml
—
6
59
5
51
0.98
-0.00
1.4
3.3
926.80
717.67
u/ml
—
5
51
7
69
1.01
-0.00
2.6
3.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
65.67
—
0
6
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
31
310
1.00
-0.00
1.8
1.9
—
—
—
0
0
9
89
1.01
-0.00
1.2
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
4.2
—
—
—
0
0
34
340
1.00
-0.00
3.0
2.6
0.77
0.65
%
1.09
34
340
5
59
0.85
-0.00
1.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
5
54
0.93
-0.00
1.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
4.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
83
0.96
-0.00
1.1
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
982.71
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
9.67
—
0
6
0
7
0.00
-0.00
0.0
4.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.1
—
5.10
—
0
8
0
9
0.00
-0.00
0.0
2.6
—
8.24
—
0
9
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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