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Congenital musculoskeletal deformities of head, face, spine and chest

DOID EFO Endpoint Browser PheWeb

Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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

Registry filters:

  • Hospital discharge: ICD-10 — Q67
  • Cause of death: ICD-10 — Q67

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

471

4. Check minimum number of events

None

471

5. Include endpoints

None

471

6. Filter based on genotype QC (FinnGen only)

447

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q6[5-9]|Q7
Name in latin
Deformitates musculosceletales congenitae capitis, faciei, columnae vertebralis et thoracis

Similar endpoints

↥

List of similar endpoints to Congenital musculoskeletal deformities of head, face, spine and chest based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

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 7857 2299 5551
Only index persons 5984 1736 4248
Unadjusted period prevalence (%)
Whole population 0.13 0.07 0.16
Only index persons 0.13 0.06 0.16
Median age at first event (years)
Whole population 12.97 11.53 13.53
Only index persons 14.71 14.54 14.78

-FinnGen-

Key figures

All Female Male
Number of individuals 447 202 245
Unadjusted period prevalence (%) 0.09 0.07 0.11
Median age at first event (years) 21.76 27.15 17.32

-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
471
Matched controls
4710
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q67.6
ICD-10 Finland
Pectus excavatum
772.2
206.8
189
*
DJD20
NOMESCO Finland
Plastic repair of septum of nose
14.0
73.7
72
60
GAF03
NOMESCO Finland
Correction of pectus excavatum
+∞
66.2
62
*
GAF10
NOMESCO Finland
Removal of prosthetic material after correction of malformation of chest wall
+∞
66.2
62
*
Q67.48
ICD-10 Finland
Other specified congenital deformity of skull, face or jaw
+∞
62.9
59
*
Q67.4
ICD-10 Finland
Other congenital deformities of skull, face and jaw
+∞
59.7
56
*
Q67.7
ICD-10 Finland
Pectus carinatum
580.2
53.6
52
*
Q67.0
ICD-10 Finland
Facial asymmetry
+∞
39.1
37
*
Q67.5
ICD-10 Finland
Congenital deformity of spine
+∞
30.5
29
*
Q67.3
ICD-10 Finland
Plagiocephaly
+∞
29.5
28
*
Q67.40
ICD-10 Finland
Other congenital deformities of skull, face and jaw
+∞
26.3
25
*
ZXD10
NOMESCO Finland
Scheduled procedure
2.8
24.8
203
1017
WX408
NOMESCO Finland
General anesthesy, balanced
2.8
22.8
161
742
Z31.5
ICD-10 Finland
Genetic counselling
4.4
22.4
60
150
WX302
NOMESCO Finland
Thoracal epidural anesthesy
5.9
21.9
41
75
ZXE20
NOMESCO Finland
More than three and less than five hours
3.6
21.7
82
262
Q67.8
ICD-10 Finland
Other congenital deformities of chest
+∞
21.0
20
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.0
17.7
88
331
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
7.7
17.5
25
34
ZXE10
NOMESCO Finland
More than one and less than three hours
2.4
17.3
171
906
ZXE00
NOMESCO Finland
One hour or less
2.3
16.5
203
1176
AA6AD
NOMESCO Finland
Cranial bones CT examination
165.3
15.6
16
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.1
13.6
187
1112
75630
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Pectus excavatum
+∞
13.6
13
*
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
13.6
13
*
TPH07
NOMESCO Finland
Cathetrisation of artery
3.2
13.3
56
190
7548A
ICD-9 Finland
Certain congenital musculoskeletal deformities, Other specified nonteratogenic anomalies[PECTUS EXCAVATUM]
+∞
12.6
12
*
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
10.1
12.4
24
25
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
2.3
11.7
107
537
ZZF00
NOMESCO Finland
Graft of adipose tissue
17.6
11.3
17
10
DLD20
NOMESCO Finland
Rhinoplasty
28.8
10.8
14
5
5853
FHL
Anterior thoracoplasty (funnel breast, chicken breast)
+∞
10.5
10
*
Q67.2
ICD-10 Finland
Dolichocephaly
+∞
10.5
10
*
Q17.2
ICD-10 Finland
Microtia
102.0
9.4
10
*
QAE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of head or neck
102.0
9.4
10
*
GAD00
NOMESCO Finland
Thoracoplasty without plombage
+∞
9.4
9
*
K07.10
ICD-10 Finland
Asymmetry of jaw
14.0
9.2
15
11
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
14.0
9.2
15
11
N02AX02
ATC
tramadol; systemic, rectal
1.9
9.2
149
917
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.7
9.1
49
191
K22
ICPC
Risk factor cardiovascular disease
3.9
8.9
26
69
M41.9
ICD-10 Finland
Scoliosis, unspecified
8.9
8.9
18
21
EEC05
NOMESCO Finland
Le Fort I osteotomy
16.7
8.6
13
8
Z50.1
ICD-10 Finland
Other physical therapy
3.8
8.6
26
71
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.2
8.5
77
381
-69
ICPC
Other reason for encounter NEC
4.1
8.4
23
58
GAF96
NOMESCO Finland
Other correction of malformation of chest wall
+∞
8.4
8
*
R01AD05
ATC
budesonide; nasal
3.1
8.3
35
119
M41.4
ICD-10 Finland
Neuromuscular scoliosis
34.0
8.1
10
*
J34.2
ICD-10 Finland
Deviated nasal septum
3.1
8.1
34
115
Q87.4
ICD-10 Finland
Marfan syndrome
45.7
7.7
9
*
R01BA52
ATC
pseudoephedrine, combinations; oral
2.0
7.7
91
499
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.0
7.6
91
500
SBB00
NOMESCO Finland
Clinical photography of mouth and teeth
2.7
7.4
40
156
5859
FHL
Other operations in this group (eg removal of fixation plate)
+∞
7.3
7
*
Q75.00
ICD-10 Finland
Coronary craniosynostosis
+∞
7.3
7
*
Z01.8
ICD-10 Finland
Other specified special examinations
1.9
7.3
99
569
Q37.1
ICD-10 Finland
Cleft hard palate with unilateral cleft lip
20.4
7.2
10
5
XF404
NOMESCO Finland
Ambulatory ECG
2.7
7.1
38
147
R4110
NOMESCO Finland
Physiotherapy
1.9
7.1
116
707
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.0
7.0
87
484
EB1MA
NOMESCO Finland
Cephalometry with X-ray
2.7
7.0
38
149
R06.0
ICD-10 Finland
Dyspnoea
1.9
7.0
97
562
EDC10
NOMESCO Finland
Sagittal osteotomy of ramus of mandible
11.2
6.8
12
11
ZXE40
NOMESCO Finland
More than seven and less than nine hours
3.9
6.6
19
50
SJX10
NOMESCO Finland
Orthodontic treatment/control appointment, short
2.3
6.6
53
250
Q87.09
ICD-10 Finland
Other congenital malformations that mainly affect the appearance of the face
70.8
6.4
7
*
Q87.03
ICD-10 Finland
Syndrome Goldenhar
70.8
6.4
7
*
Z3226
NOMESCO Finland
Physiotherapist
1.9
6.3
87
502
AAK30
NOMESCO Finland
Craniofacial reconstruction in congenital malformations
+∞
6.3
6
*
WX002
NOMESCO Finland
Sedation and analgesia
2.0
6.1
68
363
WZC10
NOMESCO Finland
Written specialist consultation based on a referral from a dentist or a physician
3.0
6.0
27
95
WX892
NOMESCO Finland
Monitored bed care
2.6
6.0
35
142

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
28
69
4.25
10.57
3.1
2.0
—
—
—
0
0
39
126
3.28
10.00
2.9
3.1
—
—
—
0
0
174
1176
1.76
7.64
9.2
10.0
1.19
1.17
inr
0.11
63
366
41
177
2.44
6.19
3.1
2.2
—
—
—
0
0
31
117
2.77
6.12
3.0
1.6
—
—
—
0
0
47
218
2.28
6.05
4.0
3.2
—
—
—
0
0
247
1922
1.60
5.87
4.5
5.6
6.16
6.42
mmol/l
1.27
225
1751
54
272
2.11
5.69
4.6
10.2
1.55
0.56
mmol/l
1.00
45
216
131
891
1.65
5.30
4.1
3.3
0.13
0.22
e6/l
1.34
105
666
255
2040
1.55
5.09
3.3
3.0
—
—
—
0
0
101
652
1.70
4.95
3.4
2.7
5.18
4.95
e6/l
0.06
96
582
138
979
1.58
4.62
4.1
3.4
15.26
119.80
e6/l
0.92
114
745
393
3521
1.70
4.43
13.0
12.2
139.75
139.62
mmol/l
0.63
383
3419
393
3529
1.69
4.29
13.1
12.3
3.94
3.94
mmol/l
0.23
383
3413
59
344
1.82
4.10
3.9
8.3
105.08
104.47
mmol/l
0.47
59
344
412
3764
1.76
4.01
12.9
11.2
25.59
21.63
mg/l
1.39
319
2785
154
1171
1.47
3.60
4.5
3.9
61.87
69.19
e6/l
0.07
115
789
122
890
1.50
3.49
3.8
3.1
—
—
—
0
0
191
1525
1.42
3.40
6.0
8.3
1.21
1.22
mmol/l
0.48
167
1333
107
769
1.51
3.27
3.6
3.3
—
—
—
0
0
66
425
1.64
3.24
2.0
1.7
—
—
—
0
0
423
3943
1.71
3.17
11.1
9.6
—
—
—
0
0
130
978
1.45
3.16
2.2
2.5
—
—
—
0
0
76
511
1.58
3.13
5.0
3.1
442.30
480.61
ng/l
0.05
52
320
174
1391
1.40
2.99
5.7
8.3
1.21
1.22
mmol/l
0.65
163
1292
454
4342
2.26
2.90
17.6
16.1
88.97
88.99
fl
0.03
446
4298
454
4343
2.26
2.88
17.7
16.1
4.66
4.66
e12/l
0.13
442
4218
454
4347
2.23
2.80
17.8
16.3
138.80
138.47
g/l
0.20
446
4301
453
4336
2.17
2.76
17.7
16.2
255.13
256.56
e9/l
0.20
441
4222
127
976
1.41
2.71
6.7
8.1
—
—
—
0
0
155
1237
1.38
2.64
5.5
5.7
37.93
37.19
g/l
0.91
146
1170
453
4343
2.13
2.63
17.6
16.1
29.84
29.87
pg
0.13
445
4299
453
4345
2.11
2.59
17.8
16.2
6.67
6.69
e9/l
0.06
442
4219
57
376
1.59
2.56
1.4
1.3
—
—
—
0
0
74
519
1.51
2.53
3.2
3.2
2.92
2.28
e6/l
0.19
48
288
452
4338
2.04
2.48
17.7
16.4
40.99
42.07
%
0.47
430
4136
27
145
1.91
2.47
6.7
14.1
—
—
—
0
0
107
811
1.41
2.45
2.9
2.5
—
—
—
0
0
181
1498
1.34
2.40
2.5
2.7
—
—
—
0
0
265
2318
1.33
2.39
4.7
3.9
—
—
—
0
0
106
810
1.40
2.31
3.0
3.7
7.39
7.40
ph
0.40
16
140
36
218
1.71
2.26
1.6
1.4
—
—
—
0
0
5
9
5.60
2.22
2.4
1.9
—
—
—
0
0
26
146
1.83
2.11
3.9
7.4
—
—
—
0
0
411
3876
1.47
2.10
9.5
8.9
25.69
28.80
u/l
3.20
399
3764
7
21
3.37
1.97
1.4
1.4
0.94
0.87
g/l
—
7
21
57
406
1.46
1.83
5.4
8.5
2.43
1.37
mmol/l
1.73
51
317
5
12
4.20
1.82
1.0
2.4
—
—
—
0
0
6
18
3.36
1.75
1.0
1.3
—
—
—
0
0
0
46
0.00
1.71
0.0
1.7
—
287.21
—
0
33
39
264
1.52
1.62
3.5
2.4
1597.34
3932.64
u/l
0.71
13
115
8
32
2.53
1.60
1.9
2.6
—
—
—
0
0
8
32
2.53
1.60
1.9
2.6
107.13
105.94
mmol/l
—
8
32
8
32
2.53
1.60
1.9
2.6
4.01
4.03
mmol/l
—
8
32
91
721
1.32
1.58
4.5
4.2
—
—
—
0
0
272
2464
1.25
1.56
7.1
6.9
88.02
84.85
u/l
0.38
257
2334
225
1998
1.24
1.54
7.1
7.4
2.02
2.09
e9/l
0.44
206
1771
222
1969
1.24
1.54
7.4
8.0
0.21
0.19
e9/l
0.60
202
1727
10
45
2.25
1.47
1.3
1.4
195.23
207.61
pmol/l
—
10
45
43
304
1.46
1.47
9.0
10.7
7.41
6.75
mmol/l
0.29
43
296
216
1918
1.23
1.46
7.2
7.5
0.04
0.04
e9/l
0.58
193
1649
216
1919
1.23
1.45
7.2
7.5
0.54
0.57
e9/l
0.86
193
1651
48
348
1.42
1.44
1.3
1.4
—
—
—
0
0
6
136
0.43
1.42
1.3
1.4
—
—
—
0
0
190
1668
1.23
1.42
3.7
3.3
0.00
0.00
estimate
-0.00
33
314
23
142
1.65
1.41
2.8
8.6
0.86
0.70
%
1.14
23
142
5
122
0.40
1.39
1.4
1.4
—
—
—
0
0
205
1818
1.23
1.38
7.7
7.9
—
—
—
0
0
40
283
1.45
1.37
1.6
1.3
814.52
247.21
u/ml
0.36
40
259
31
208
1.52
1.36
1.2
1.2
—
—
—
0
0
0
38
0.00
1.35
0.0
1.4
—
—
—
0
0
187
1648
1.22
1.33
4.9
4.6
0.00
0.00
estimate
-0.00
33
328
120
1009
1.25
1.32
1.5
1.7
105.97
96.61
pmol/l
0.77
56
521
187
1651
1.22
1.30
3.7
3.3
0.00
0.00
estimate
0.50
33
333
58
443
1.35
1.30
2.2
2.2
—
—
—
0
0
6
135
0.44
1.29
1.3
1.4
—
—
—
0
0
6
25
2.42
1.24
1.3
1.1
—
—
—
0
0
242
2199
1.21
1.24
9.0
10.0
3.78
3.87
e9/l
0.34
219
1887
76
934
0.78
1.21
1.7
1.7
—
—
—
0
0
83
677
1.27
1.17
2.3
3.1
8600.25
4398.93
umol/l
0.31
77
612
12
65
1.87
1.14
7.9
4.1
3.29
3.96
e9/l
0.88
12
65
49
373
1.35
1.13
7.7
9.8
—
—
—
0
0
35
252
1.42
1.12
5.7
7.7
9.72
9.45
kpa
0.41
35
241
51
392
1.34
1.11
1.0
1.2
—
—
—
0
0
7
31
2.28
1.10
1.0
1.3
—
—
—
0
0
5
21
2.40
1.09
1.2
1.3
1.52
1.48
g/l
—
5
21
196
1763
1.19
1.08
8.0
9.8
0.00
0.00
e9/l
0.52
165
1392
10
52
1.94
1.07
1.6
1.3
6.02
6.02
g/l
—
5
40
10
52
1.94
1.07
1.6
1.3
2.73
2.22
g/l
—
5
40
10
52
1.94
1.07
1.6
1.3
—
—
—
0
0
10
52
1.94
1.07
1.6
1.3
0.30
0.35
g/l
—
5
39
110
1278
0.82
1.06
2.4
2.2
—
—
—
0
0
7
33
2.14
1.06
5.6
6.1
—
—
—
0
0
17
106
1.63
1.04
3.2
4.8
—
—
—
0
0
5
22
2.29
1.03
1.8
2.0
—
—
—
0
0
212
1926
1.18
1.03
7.0
7.5
31.80
31.43
%
0.18
201
1849
9
47
1.93
1.02
1.4
1.5
—
—
—
0
0
86
717
1.24
1.02
1.9
2.5
0.98
0.94
mg/l
0.06
56
515
12
68
1.78
1.01
8.0
4.4
53.42
54.90
%
0.19
12
68
20
132
1.54
0.98
2.0
2.2
—
—
—
0
0
269
2500
1.18
0.98
4.7
3.9
8.20
8.48
mm/h
0.16
255
2324
0
29
0.00
0.98
0.0
1.1
—
—
—
0
0
0
29
0.00
0.98
0.0
3.4
—
2.76
—
0
29
0
31
0.00
0.96
0.0
2.5
—
39374.35
—
0
31
195
1768
1.18
0.96
7.1
7.7
0.71
0.67
%
0.57
185
1683
39
296
1.35
0.94
6.0
7.1
—
—
—
0
0
64
521
1.26
0.94
1.3
1.3
39.64
32.15
iu/ml
0.11
22
153
109
944
1.20
0.90
2.1
2.6
50.89
56.24
u/l
1.24
96
883
12
71
1.71
0.89
1.5
3.6
—
—
—
0
0
6
30
2.01
0.87
49.7
29.4
139.00
143.64
ug/l
—
6
25
151
1351
1.17
0.86
2.7
2.6
74.03
71.75
nmol/l
0.56
141
1245
129
1141
1.18
0.85
1.6
1.6
—
—
—
0
0
8
137
0.58
0.84
1.5
1.5
—
—
—
0
0
206
1893
1.16
0.83
6.7
7.3
52.98
53.87
%
0.53
195
1816
25
181
1.40
0.81
1.6
2.8
69.49
65.50
g/l
2.14
25
171
289
2725
1.16
0.81
3.6
3.7
14.65
14.63
pmol/l
0.04
266
2489
27
199
1.38
0.80
2.0
3.6
1.24
1.23
mmol/l
0.78
22
174
199
1828
1.15
0.80
7.2
7.6
3.29
2.97
%
0.85
190
1742
0
24
0.00
0.79
0.0
1.0
—
1388.83
—
0
24
0
25
0.00
0.79
0.0
1.8
—
—
—
0
0
0
25
0.00
0.79
0.0
1.2
—
—
—
0
0
0
25
0.00
0.79
0.0
1.0
—
—
—
0
0
0
26
0.00
0.78
0.0
1.1
—
—
—
0
0
0
26
0.00
0.78
0.0
1.1
—
—
—
0
0
24
174
1.40
0.78
2.3
5.0
21.46
22.02
s
0.34
24
162
0
28
0.00
0.76
0.0
1.3
—
—
—
0
0
27
201
1.36
0.76
2.0
1.8
21.49
16.91
iu/l
0.32
19
159
5
24
2.09
0.74
1.8
5.7
20.10
23.13
ug/l
—
5
24
59
491
1.23
0.74
1.4
1.4
395.56
442.64
titre
—
9
91
27
203
1.35
0.72
4.9
4.7
3.01
62.47
ug/l
0.83
19
160
14
93
1.52
0.70
2.4
2.3
298.74
321.78
ug/l
0.06
14
87
199
1842
1.14
0.70
7.5
7.8
8.44
8.38
%
0.12
190
1762
5
95
0.52
0.67
1.6
1.2
—
—
—
0
0
21
281
0.74
0.66
1.5
1.5
—
—
—
0
0
56
661
0.83
0.65
1.6
1.7
—
—
—
0
0
93
1047
0.86
0.63
1.7
1.5
1.89
2.02
g/l
0.38
49
614
8
49
1.64
0.62
3.9
3.5
—
—
—
0
0
5
30
1.67
0.61
1.2
4.1
—
—
—
0
0
0
22
0.00
0.59
0.0
1.2
—
0.08
—
0
5
0
22
0.00
0.59
0.0
2.8
—
90.73
—
0
11
18
132
1.38
0.58
1.1
1.2
—
—
—
0
0
6
35
1.72
0.58
1.2
1.1
—
—
—
0
0
72
629
1.17
0.57
3.5
2.9
618.85
564.02
mosm/kgh2o
0.55
66
546
58
498
1.19
0.56
1.3
1.2
5.81
9.21
u/ml
0.36
23
202
23
292
0.78
0.52
1.6
1.3
—
—
—
0
0
15
202
0.73
0.51
1.3
1.3
218.62
270.64
miu/ml
—
6
102
29
356
0.80
0.51
1.7
1.8
—
—
—
0
0
6
41
1.47
0.50
1.2
1.0
—
—
—
0
0
103
934
1.13
0.49
4.5
3.1
2.36
2.37
mmol/l
0.20
92
845
10
143
0.69
0.48
1.9
1.6
—
—
—
0
0
8
119
0.67
0.46
1.1
1.3
—
—
—
0
0
7
50
1.41
0.45
1.0
1.5
—
—
—
0
0
324
3137
1.11
0.44
3.3
3.2
1.23
1.25
mmol/l
0.19
304
2954
21
262
0.79
0.43
2.2
2.2
28.92
19.58
au/ml
—
5
22
8
56
1.44
0.42
2.5
3.4
43.50
37.11
%
—
8
56
13
96
1.36
0.42
1.0
1.4
—
—
—
0
0
5
33
1.52
0.41
1.0
1.6
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.0
—
274.89
—
0
9
29
241
1.22
0.41
4.0
4.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
2.8
—
165.81
—
0
16
16
204
0.78
0.40
1.1
1.1
—
—
—
0
0
29
242
1.21
0.40
3.6
2.5
3.94
6.48
e9/l
0.90
22
216
5
35
1.43
0.39
4.6
2.9
—
—
—
0
0
19
236
0.80
0.39
1.2
1.2
—
32.92
—
0
12
5
36
1.39
0.38
1.2
1.1
—
—
—
0
0
331
3222
1.09
0.36
4.3
4.3
1.84
1.87
mu/l
0.15
310
2987
5
78
0.64
0.36
1.4
1.6
—
—
—
0
0
9
123
0.73
0.35
3.7
1.6
—
—
—
0
0
45
399
1.14
0.32
2.6
2.5
20.47
24.09
%
1.25
38
357
6
47
1.28
0.32
1.3
1.2
—
—
—
0
0
26
305
0.84
0.32
1.3
1.3
38.15
167.82
iu/ml
4.96
12
115
24
202
1.20
0.31
2.0
1.9
4.35
6.41
u/l
1.89
15
160
7
52
1.35
0.31
6.6
3.9
—
—
—
0
0
27
231
1.18
0.30
8.6
5.6
68.11
69.42
ng/l
0.05
27
221
46
411
1.13
0.30
1.7
1.9
—
—
—
0
0
38
335
1.15
0.30
1.7
2.0
—
—
—
0
0
145
1375
1.08
0.30
3.3
3.1
6.16
5.83
ph
1.01
16
138
105
983
1.09
0.29
2.7
3.0
19.52
31.12
ng/l
1.17
59
533
79
730
1.10
0.29
3.4
3.1
—
—
—
0
0
15
121
1.25
0.29
1.7
1.7
—
—
—
0
0
291
2833
1.07
0.28
4.6
4.3
37.76
38.06
mmol/mol
0.22
282
2679
47
423
1.12
0.28
3.3
2.6
2.43
2.43
mmol/l
0.03
41
364
58
634
0.90
0.27
3.7
3.4
31.01
89.71
mg/l
2.51
38
442
20
168
1.20
0.27
1.1
1.2
1.69
3.19
u/ml
0.56
13
112
249
2563
0.94
0.26
2.7
3.3
31.49
39.33
u/l
2.83
234
2463
33
293
1.14
0.25
2.2
2.6
—
—
—
0
0
315
3083
1.07
0.24
3.4
3.4
5.64
5.67
mmol/l
0.14
293
2845
69
742
0.92
0.24
1.7
1.8
—
—
—
0
0
39
431
0.90
0.23
1.3
1.2
—
—
—
0
0
90
953
0.93
0.22
3.2
2.8
—
—
—
0
0
70
654
1.08
0.22
4.0
4.1
1.65
2.14
ug/l
0.43
65
581
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
17.66
—
0
11
0
10
0.00
0.21
0.0
2.2
—
160.90
—
0
10
0
10
0.00
0.21
0.0
1.0
—
165.10
—
0
10
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
27.9
—
0.48
—
0
12
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
17
145
1.18
0.21
1.2
1.2
1.23
1.36
u/ml
0.05
11
94
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
4.1
—
—
—
0
0
0
14
0.00
0.20
0.0
4.9
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
2901.17
—
0
6
28
250
1.13
0.20
5.3
4.7
0.17
0.60
%
—
6
83
9
114
0.79
0.20
1.1
1.1
—
—
—
0
0
29
261
1.12
0.18
6.4
4.9
0.00
0.14
%
—
7
83
26
233
1.12
0.18
1.2
1.2
—
—
—
0
0
89
934
0.94
0.17
3.6
3.4
8.74
8.55
mmol/l
0.12
79
845
16
184
0.86
0.17
2.1
2.5
—
—
—
0
0
7
62
1.13
0.17
1.1
1.1
—
—
—
0
0
7
63
1.11
0.17
2.0
2.9
10.70
29.30
mu/l
—
7
58
8
70
1.15
0.16
1.4
1.3
—
—
—
0
0
8
70
1.15
0.16
2.4
12.8
—
—
—
0
0
42
390
1.08
0.16
1.9
1.6
1012.35
1184.32
nmol/l
0.59
25
313
75
788
0.94
0.15
1.7
1.6
—
—
—
0
0
9
78
1.16
0.15
1.1
1.1
—
—
—
0
0
9
79
1.14
0.15
3.6
2.4
—
—
—
0
0
40
372
1.08
0.15
1.5
1.5
—
—
—
0
0
330
3257
1.04
0.14
3.6
3.4
1.41
1.41
mmol/l
0.02
311
3075
10
118
0.84
0.14
1.2
1.3
—
—
—
0
0
10
84
1.19
0.14
1.6
1.9
1.33
0.80
g/l
—
5
70
30
276
1.09
0.14
6.2
4.9
0.14
0.98
%
—
7
99
40
374
1.08
0.13
2.8
2.6
0.70
0.67
ug/l
0.10
26
209
12
138
0.87
0.13
1.2
1.3
—
—
—
0
0
9
106
0.85
0.13
1.1
1.1
—
9.47
—
0
6
46
434
1.07
0.12
1.7
1.8
—
—
—
0
0
20
181
1.11
0.12
12.3
13.4
1.41
1.17
mg/l
0.65
20
173
25
230
1.09
0.11
1.2
1.5
—
—
—
0
0
114
1174
0.96
0.11
1.8
1.8
—
—
—
0
0
118
1147
1.04
0.11
1.6
1.5
3.97
2.35
u/ml
0.21
26
275
46
436
1.06
0.11
1.7
1.9
—
—
—
0
0
17
154
1.11
0.10
1.2
1.2
—
—
—
0
0
156
1593
0.97
0.10
5.5
6.8
11.42
12.96
umol/l
0.50
147
1517
23
248
0.92
0.09
2.4
4.5
67.29
70.76
e9/l
0.23
16
173
331
3279
1.03
0.09
3.7
3.5
4.52
4.63
mmol/l
1.29
316
3104
40
421
0.95
0.09
1.5
1.5
—
—
—
0
0
46
439
1.05
0.09
1.7
1.9
—
—
—
0
0
17
155
1.10
0.09
2.4
3.1
0.03
0.11
e6/l
1.89
17
147
30
282
1.07
0.09
4.4
3.3
—
—
—
0
0
27
254
1.07
0.08
6.6
5.0
0.00
0.07
%
—
5
74
46
441
1.05
0.08
1.7
1.9
—
—
—
0
0
56
579
0.96
0.07
1.3
1.4
21.65
19.56
nmol/l
0.57
48
496
77
790
0.97
0.06
4.0
3.2
1.02
1.02
kg/l
0.32
11
111
20
213
0.94
0.06
1.5
1.5
—
—
—
0
0
118
1200
0.98
0.05
1.9
2.1
—
—
—
0
0
55
538
1.03
0.03
1.3
1.3
—
—
—
0
0
65
662
0.98
0.03
4.2
4.0
6.75
38.65
mg/mmol
0.71
44
456
82
808
1.02
0.03
2.4
2.6
2.58
2.91
mg/l
0.87
71
715
11
118
0.93
0.03
1.1
1.1
—
—
—
0
0
11
118
0.93
0.03
1.1
1.1
—
—
—
0
0
10
93
1.08
0.02
1.7
2.3
0.77
0.65
nmol/l
—
10
80
166
1651
1.01
0.01
2.9
2.9
79.49
90.42
ug/l
0.62
154
1550
80
808
0.99
0.01
1.5
1.7
1.33
1.33
mmol/l
0.02
69
715
34
333
1.02
0.01
4.0
2.6
10.19
9.68
g/l
0.30
34
308
86
867
0.99
0.01
4.3
3.4
0.00
0.00
estimate
0.50
30
321
331
3303
1.01
0.01
3.8
3.7
2.74
2.82
mmol/l
0.87
311
3101
11
116
0.95
0.00
8.2
11.1
—
—
—
0
0
16
164
0.97
0.00
1.2
1.1
—
—
—
0
0
32
324
0.99
0.00
1.4
1.2
—
—
—
0
0
64
644
0.99
0.00
2.8
3.0
92.13
135.98
ug/g
0.63
54
521
6
62
0.97
0.00
7.3
4.0
—
—
—
0
0
6
66
0.91
0.00
4.8
4.8
297.57
389.61
umol/l
—
6
59
0
7
0.00
-0.00
0.0
3.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
14.34
—
0
5
0
6
0.00
-0.00
0.0
5.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
8
87
0.92
-0.00
1.3
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
3.2
—
1.08
—
0
9
0
5
0.00
-0.00
0.0
1.0
—
271.00
—
0
5
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.1
—
2.86
—
0
8
0
7
0.00
-0.00
0.0
1.4
—
59.14
—
0
7
0
9
0.00
-0.00
0.0
1.2
—
21.60
—
0
9
9
98
0.92
-0.00
4.6
2.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST 1.107 [0.86, 1.42] 0.422
Birth year 0.984 [0.97, 0.99] 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 83 out of 4624 males with Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST.

N-year risk Females Males
1 No data 0.219%
5 No data 1.212%
10 No data 3.016%
15 No data 5.71%
20 No data 9.419%

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST – Congenital musculoskeletal deformities of head, face, spine and chest

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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