Congenital musculoskeletal deformities of head, face, spine and chest

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

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 Q67
  • Cause of death: ICD-10 Q67

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

493

4. Check minimum number of events

None

493

5. Include endpoints

None

493

6. Filter based on genotype QC (FinnGen only)

449

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 449 203 246
Unadjusted period prevalence (%) 0.09 0.07 0.11
Median age at first event (years) 21.75 27.17 17.27

-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
475
Matched controls
4750
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q67.6
ICD-10 Finland
Pectus excavatum
774.9
207.9
190
*
DJD20
NOMESCO Finland
Plastic repair of septum of nose
13.5
72.2
72
62
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
592.2
54.7
53
*
Q67.0
ICD-10 Finland
Facial asymmetry
+∞
42.3
40
*
Q67.5
ICD-10 Finland
Congenital deformity of spine
+∞
31.6
30
*
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
25.0
203
1012
WX408
NOMESCO Finland
General anesthesy, balanced
2.7
22.4
162
754
Q67.8
ICD-10 Finland
Other congenital deformities of chest
+∞
21.0
20
*
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
9.1
20.8
26
30
WX302
NOMESCO Finland
Thoracal epidural anesthesy
5.6
20.7
41
79
Z31.5
ICD-10 Finland
Genetic counselling
4.1
20.6
62
169
ZXE20
NOMESCO Finland
More than three and less than five hours
3.5
20.2
80
263
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
2.9
17.2
92
360
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
7.5
17.1
25
35
TPH07
NOMESCO Finland
Cathetrisation of artery
3.5
16.9
64
204
ZXE10
NOMESCO Finland
More than one and less than three hours
2.4
16.7
170
909
ZXE00
NOMESCO Finland
One hour or less
2.3
16.6
205
1188
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.2
15.8
208
1232
AA6AD
NOMESCO Finland
Cranial bones CT examination
165.2
15.6
16
*
75630
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Pectus excavatum
+∞
13.6
13
*
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
13.6
13
*
7548A
ICD-9 Finland
Certain congenital musculoskeletal deformities, Other specified nonteratogenic anomalies[PECTUS EXCAVATUM]
+∞
12.6
12
*
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
2.3
11.8
110
556
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
*
GAF96
NOMESCO Finland
Other correction of malformation of chest wall
+∞
10.5
10
*
K22
ICPC
Risk factor cardiovascular disease
3.9
9.9
29
77
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.3
9.5
83
405
QAE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of head or neck
102.0
9.4
10
*
Q17.2
ICD-10 Finland
Microtia
102.0
9.4
10
*
GAD00
NOMESCO Finland
Thoracoplasty without plombage
+∞
9.4
9
*
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
14.0
9.2
15
11
K07.10
ICD-10 Finland
Asymmetry of jaw
14.0
9.2
15
11
Z50.1
ICD-10 Finland
Other physical therapy
3.9
9.2
27
72
N02AX02
ATC
tramadol; systemic, rectal
1.9
9.0
153
955
M41.4
ICD-10 Finland
Neuromuscular scoliosis
50.9
8.7
10
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
16.7
8.6
13
8
-69
ICPC
Other reason for encounter NEC
4.1
8.4
23
58
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.6
8.4
50
205
WX402
NOMESCO Finland
General anaesthesia
2.0
8.3
116
675
Z01.8
ICD-10 Finland
Other specified special examinations
2.0
8.3
107
606
J34.2
ICD-10 Finland
Deviated nasal septum
3.1
8.3
35
119
R01AD05
ATC
budesonide; nasal
3.1
8.1
35
120
M41.9
ICD-10 Finland
Scoliosis, unspecified
8.4
8.1
17
21
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.0
7.9
100
561
Q87.4
ICD-10 Finland
Marfan syndrome
45.7
7.7
9
*
R01BA52
ATC
pseudoephedrine, combinations; oral
2.0
7.6
91
501
R4110
NOMESCO Finland
Physiotherapy
1.9
7.5
121
736
EB1MA
NOMESCO Finland
Cephalometry with X-ray
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
*
SBB00
NOMESCO Finland
Clinical photography of mouth and teeth
2.7
7.2
40
158
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
148
WX892
NOMESCO Finland
Monitored bed care
2.7
7.1
38
148
WZC00
NOMESCO Finland
Treatment plan or consultation
1.7
6.8
193
1375
Q16.1
ICD-10 Finland
Congenital absence, atresia and stricture of auditory canal (external)
40.6
6.8
8
*
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
1.9
6.8
92
528
EDC10
NOMESCO Finland
Sagittal osteotomy of ramus of mandible
10.2
6.6
12
12
R06.0
ICD-10 Finland
Dyspnoea
1.8
6.6
103
619
Z3226
NOMESCO Finland
Physiotherapist
1.9
6.5
89
512
Q87.03
ICD-10 Finland
Syndrome Goldenhar
70.8
6.4
7
*
Q87.09
ICD-10 Finland
Other congenital malformations that mainly affect the appearance of the face
70.8
6.4
7
*
ZXE40
NOMESCO Finland
More than seven and less than nine hours
3.8
6.4
19
51
SJX10
NOMESCO Finland
Orthodontic treatment/control appointment, short
2.2
6.3
53
254
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
1.8
6.3
97
579
WX002
NOMESCO Finland
Sedation and analgesia
2.0
6.3
69
367
AAK30
NOMESCO Finland
Craniofacial reconstruction in congenital malformations
+∞
6.3
6
*
Q16.0
ICD-10 Finland
Congenital absence of (ear) auricle
+∞
6.3
6
*
Z03.89
ICD-10 Finland
Observation for other suspected diseases and conditions
1.9
6.2
84
480
H13
ICPC
Plugged feeling ear
1.9
6.2
78
436
WZC10
NOMESCO Finland
Written specialist consultation based on a referral from a dentist or a physician
3.0
6.0
27
95

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
194
1308
1.82
8.86
11.6
10.1
1.20
1.16
inr
0.62
171
1088
278
2119
1.75
8.06
4.9
6.1
6.16
6.37
mmol/l
1.16
258
1963
175
1214
1.70
6.83
6.3
7.8
—
—
—
0
0
63
325
2.08
6.24
5.8
10.8
7.42
7.41
ph
0.37
31
167
62
319
2.09
6.18
5.8
10.9
1.42
0.46
mmol/l
1.12
53
267
145
1009
1.63
5.36
4.3
3.4
0.14
0.22
e6/l
1.18
110
725
160
1153
1.58
5.07
4.5
3.5
13.46
110.44
e6/l
1.01
129
861
51
265
2.04
4.96
3.0
2.0
6.23
6.23
ph
0.02
42
171
115
770
1.65
4.90
3.7
2.8
6.86
5.41
e6/l
0.36
109
694
30
132
2.36
4.39
2.0
1.7
—
—
—
0
0
52
288
1.90
4.23
2.7
1.9
0.00
0.00
estimate
—
9
78
413
3757
1.76
4.21
15.2
14.1
139.76
139.67
mmol/l
0.41
406
3679
413
3761
1.75
4.14
15.4
14.2
3.93
3.94
mmol/l
0.56
406
3670
76
479
1.70
4.04
2.1
1.7
—
—
—
0
0
441
4113
2.01
3.86
16.7
14.5
71.12
72.41
umol/l
0.66
436
4065
70
441
1.69
3.72
5.5
9.1
105.39
104.69
mmol/l
0.69
70
441
176
1381
1.44
3.45
5.0
4.2
57.83
62.74
e6/l
0.05
128
913
208
1706
1.39
3.09
6.7
8.9
1.21
1.22
mmol/l
0.45
185
1511
146
1128
1.42
3.06
2.2
2.6
—
—
—
0
0
428
4002
1.70
3.04
14.9
12.7
25.86
21.71
mg/l
1.68
349
3114
85
595
1.52
2.93
3.5
3.4
2.04
2.25
e6/l
0.08
49
293
84
594
1.50
2.76
5.4
3.3
416.63
562.94
ng/l
0.22
56
376
121
927
1.41
2.61
3.0
3.9
7.38
7.39
ph
1.48
88
641
197
1642
1.34
2.50
2.7
3.0
—
—
estimate
—
0
0
436
4135
1.66
2.43
12.2
10.5
—
—
—
0
0
463
4475
2.37
2.39
21.2
19.3
255.94
256.50
e9/l
0.07
454
4390
173
1425
1.34
2.35
5.7
6.0
38.14
37.44
g/l
0.93
163
1361
68
476
1.50
2.35
3.5
3.2
4.18
5.40
e9/l
0.78
59
428
463
4478
2.34
2.33
21.1
19.2
89.07
89.09
fl
0.04
458
4448
463
4479
2.33
2.31
21.2
19.2
4.67
4.66
e12/l
0.19
455
4384
239
2066
1.32
2.30
7.4
8.4
31.79
31.10
%
0.41
229
1995
285
2527
1.32
2.27
5.1
4.2
—
3.36
—
0
7
63
438
1.51
2.25
1.4
1.4
—
—
—
0
0
20
100
2.04
2.24
2.2
1.9
3.92
4.12
ug/l
0.02
20
94
463
4483
2.30
2.23
21.4
19.4
138.57
138.58
g/l
0.00
458
4451
185
1549
1.32
2.22
6.8
9.0
1.21
1.22
mmol/l
0.74
174
1449
108
836
1.38
2.17
4.3
4.3
—
—
—
0
0
299
2683
1.31
2.11
7.7
7.7
86.69
84.87
u/l
0.22
288
2557
62
436
1.49
2.11
1.1
1.2
—
—
—
0
0
113
887
1.36
2.08
3.0
2.6
—
—
—
0
0
462
4479
2.15
2.05
21.1
19.2
29.83
29.91
pg
0.46
457
4448
462
4479
2.15
2.05
21.7
19.9
41.16
42.18
%
0.49
457
4444
0
58
0.00
2.05
0.0
1.6
—
286.83
—
0
42
462
4480
2.14
2.03
21.3
19.3
6.71
6.66
e9/l
0.22
454
4381
26
148
1.80
2.03
3.9
7.4
—
—
—
0
0
49
335
1.52
1.91
8.9
11.6
6.72
6.78
mmol/l
0.02
49
327
250
2209
1.28
1.91
7.6
8.3
2.01
2.07
e9/l
0.39
227
1937
431
4117
1.51
1.84
11.1
10.4
26.68
28.70
u/l
1.51
422
4026
55
391
1.46
1.79
1.3
1.5
—
—
—
0
0
242
2143
1.26
1.77
7.8
8.3
0.55
0.56
e9/l
0.66
215
1826
248
2206
1.26
1.73
8.0
8.9
0.21
0.19
e9/l
0.52
225
1916
5
13
3.87
1.72
1.0
2.8
—
—
—
0
0
230
2031
1.26
1.70
7.2
8.3
53.04
54.19
%
0.82
221
1967
241
2142
1.25
1.68
7.8
8.3
0.04
0.04
e9/l
0.26
214
1822
8
31
2.61
1.66
1.3
1.1
—
—
—
0
0
226
1999
1.25
1.62
4.1
3.6
0.00
0.00
estimate
-0.00
45
386
38
256
1.53
1.61
1.9
1.8
16.73
17.08
iu/l
0.03
27
196
100
801
1.31
1.60
2.3
2.6
0.90
1.00
mg/l
0.18
68
591
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
8
32
2.53
1.60
1.9
2.6
1.20
1.18
mmol/l
—
8
32
223
1973
1.25
1.59
7.7
8.6
0.73
0.67
%
0.95
213
1880
224
1983
1.25
1.59
7.7
8.5
3.26
2.96
%
0.91
215
1892
0
43
0.00
1.53
0.0
1.4
—
0.17
—
0
31
62
465
1.38
1.52
5.8
8.9
2.46
1.28
mmol/l
2.32
56
386
7
27
2.62
1.52
1.0
1.3
144.14
105.85
pmol/l
—
7
27
224
1993
1.23
1.49
7.7
8.6
8.66
8.61
%
0.11
215
1907
221
1964
1.23
1.48
4.1
3.5
0.00
0.00
estimate
-0.00
44
412
223
1984
1.23
1.48
4.1
3.5
0.02
0.00
estimate
0.49
45
405
46
329
1.44
1.48
1.6
1.4
714.41
297.84
u/ml
0.29
46
305
10
45
2.25
1.47
1.3
1.4
195.23
207.61
pmol/l
—
10
45
30
196
1.57
1.47
2.4
5.0
20.90
21.54
s
0.44
30
184
166
1432
1.24
1.46
6.7
8.7
—
—
—
0
0
186
1626
1.24
1.45
3.4
3.2
6.24
6.22
ph
0.08
102
904
63
485
1.34
1.33
5.8
8.7
7.37
7.37
ph
0.69
38
300
148
1274
1.23
1.31
1.5
1.6
—
—
—
0
0
6
24
2.52
1.30
1.7
2.4
—
—
—
0
0
35
245
1.46
1.27
1.2
1.2
—
—
—
0
0
216
1940
1.21
1.25
9.6
11.7
0.00
0.00
e9/l
0.54
181
1525
51
385
1.36
1.23
6.2
7.1
7.41
7.41
ph
0.04
42
311
31
439
0.69
1.23
1.6
1.5
3.33
3.40
mmol/l
0.17
23
290
41
299
1.41
1.21
3.6
2.5
3527.69
5002.17
u/l
0.22
15
131
43
317
1.39
1.20
5.9
7.0
—
—
—
0
0
22
141
1.59
1.19
1.9
2.3
—
—
—
0
0
0
34
0.00
1.16
0.0
1.1
—
—
—
0
0
8
155
0.51
1.15
1.3
1.5
—
—
—
0
0
12
65
1.87
1.14
7.9
4.1
3.29
3.96
e9/l
0.88
12
65
55
426
1.33
1.14
8.4
11.0
—
—
—
0
0
18
111
1.65
1.13
2.3
2.1
299.52
302.56
ug/l
0.01
18
105
30
210
1.46
1.11
4.6
8.6
136.03
131.55
g/l
0.48
30
203
27
185
1.49
1.11
2.9
8.3
0.80
0.62
%
1.70
27
185
138
1573
0.83
1.09
2.6
2.5
—
—
—
0
0
259
2386
1.19
1.08
9.9
11.1
3.80
3.87
e9/l
0.24
236
2038
37
271
1.40
1.08
6.3
7.6
9.51
9.47
kpa
0.04
37
263
123
1061
1.21
1.06
2.2
2.7
50.86
56.38
u/l
1.46
109
1001
79
650
1.26
1.05
1.3
1.3
35.08
29.68
iu/ml
0.09
26
176
5
22
2.29
1.03
1.0
1.5
14.34
434.83
ug/l
—
5
17
11
60
1.85
1.03
1.5
1.3
0.29
0.34
g/l
—
6
46
11
60
1.85
1.03
1.5
1.4
2.62
2.42
g/l
—
6
47
11
60
1.85
1.03
1.5
1.3
7.20
6.01
g/l
—
6
47
11
60
1.85
1.03
1.5
1.3
—
—
—
0
0
9
47
1.93
1.02
1.4
1.5
0.49
0.48
e9/l
—
9
47
0
29
0.00
0.98
0.0
1.3
—
—
—
0
0
89
1047
0.82
0.97
1.6
1.8
—
—
—
0
0
70
574
1.26
0.96
1.4
1.4
447.27
430.91
titre
0.04
11
110
62
502
1.27
0.95
2.4
2.2
—
—
—
0
0
8
145
0.54
0.94
1.3
1.4
—
—
—
0
0
113
979
1.20
0.93
6.5
5.1
—
—
—
0
0
111
963
1.20
0.90
3.7
3.2
1.02
1.02
kg/l
0.53
73
606
12
72
1.68
0.86
1.5
3.6
—
—
—
0
0
30
223
1.37
0.84
4.9
4.9
3.15
58.17
ug/l
0.83
22
174
6
32
1.89
0.82
56.3
31.5
130.50
142.93
ug/l
—
6
27
0
24
0.00
0.79
0.0
1.3
—
—
—
0
0
0
24
0.00
0.79
0.0
1.2
—
0.08
—
0
5
0
24
0.00
0.79
0.0
2.6
—
90.73
—
0
11
18
123
1.48
0.78
1.8
2.3
2.24
5.21
iu/l
—
9
56
145
1303
1.16
0.78
1.6
1.8
102.69
96.91
pmol/l
0.53
76
679
10
59
1.71
0.76
4.9
3.9
5.45
8.14
pmol/l
—
10
59
19
133
1.45
0.74
1.2
1.2
—
—
—
0
0
7
39
1.81
0.72
1.0
1.2
—
—
—
0
0
7
40
1.76
0.71
5.6
5.1
—
—
—
0
0
71
826
0.83
0.70
1.4
1.5
21.14
19.76
nmol/l
0.39
63
722
7
43
1.64
0.67
1.1
1.0
—
—
—
0
0
10
155
0.64
0.67
1.4
1.6
—
—
—
0
0
12
78
1.55
0.66
4.8
3.1
1.41
1.36
mmol/l
0.12
12
73
45
369
1.24
0.65
1.8
2.6
28.77
32.79
u/l
0.79
39
305
26
199
1.32
0.64
1.7
2.0
38.27
35.86
nmol/l
0.26
26
193
28
217
1.31
0.63
2.2
3.9
1.24
1.23
mmol/l
0.89
23
190
29
367
0.78
0.62
1.4
1.6
981.83
914.51
mu/l
0.10
24
324
119
1072
1.15
0.62
4.3
3.1
2.36
2.37
mmol/l
0.40
107
994
27
343
0.77
0.60
1.3
1.3
38.15
162.44
u/ml
4.97
12
127
0
20
0.00
0.60
0.0
1.3
—
—
—
0
0
7
114
0.61
0.58
2.0
2.9
—
—
—
0
0
107
1184
0.88
0.57
1.8
1.6
1.87
2.02
g/l
0.60
61
709
27
212
1.29
0.57
1.6
2.9
68.79
65.79
g/l
1.43
27
204
15
205
0.72
0.55
2.0
1.9
—
—
—
0
0
30
240
1.27
0.55
2.1
2.0
4.15
6.50
u/l
2.72
19
181
273
2856
0.90
0.55
3.0
3.5
32.32
38.89
u/l
2.25
262
2754
6
38
1.59
0.54
1.2
1.2
—
—
—
0
0
86
766
1.15
0.53
2.5
3.2
326.44
335.52
umol/l
0.42
80
700
68
595
1.17
0.53
1.4
1.3
11.59
8.09
u/ml
0.20
29
242
43
361
1.21
0.53
2.3
2.6
—
—
—
0
0
65
741
0.86
0.52
1.6
1.7
—
—
—
0
0
18
236
0.75
0.52
1.2
1.3
241.81
258.98
miu/ml
—
7
123
26
323
0.79
0.50
1.7
1.5
—
—
—
0
0
122
1117
1.12
0.50
2.9
3.1
18.65
30.02
ng/l
1.37
69
625
7
110
0.63
0.49
1.4
1.2
—
—
—
0
0
14
102
1.38
0.48
1.6
1.4
387.25
311.92
ug/g
—
8
57
15
111
1.36
0.47
1.0
1.5
—
—
—
0
0
15
111
1.36
0.47
6.6
3.3
53.40
56.41
%
0.56
15
111
17
221
0.76
0.47
1.1
1.1
—
—
—
0
0
76
679
1.14
0.46
3.6
2.9
612.72
555.86
mosm/kgh2o
0.61
69
602
105
1147
0.89
0.46
3.2
2.8
0.00
0.00
estimate
-0.00
30
330
5
84
0.59
0.46
1.6
1.7
13.60
40.19
ng/l
—
5
84
314
3032
1.11
0.46
3.9
4.1
14.73
14.67
pmol/l
0.18
295
2790
21
165
1.29
0.45
2.4
1.7
2.77
4.99
iu/ml
—
7
35
10
141
0.70
0.45
3.8
1.7
—
—
—
0
0
12
86
1.41
0.45
3.4
2.4
—
—
—
0
0
43
368
1.19
0.45
4.2
8.7
24.79
23.73
mmol/l
1.75
43
368
50
434
1.17
0.44
2.8
2.7
0.67
0.69
ug/l
0.06
31
227
5
33
1.52
0.41
1.8
5.5
20.10
21.00
ug/l
—
5
33
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
7.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.0
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
3.8
—
—
—
0
0
0
16
0.00
0.41
0.0
3.1
—
168.31
—
0
16
0
16
0.00
0.41
0.0
1.1
—
36772.43
—
0
7
0
17
0.00
0.40
0.0
1.6
—
17.71
—
0
17
31
260
1.21
0.40
8.1
5.8
63.10
73.86
ng/l
0.62
31
248
0
18
0.00
0.40
0.0
1.3
—
0.00
—
0
18
0
18
0.00
0.40
0.0
1.1
—
270.42
—
0
12
33
387
0.84
0.39
1.7
1.8
—
—
—
0
0
159
1500
1.09
0.37
3.8
3.2
0.00
0.01
estimate
0.69
34
353
13
99
1.32
0.36
1.5
2.0
1.03
0.80
g/l
—
8
84
30
255
1.19
0.35
3.9
4.1
7.41
7.33
ph
1.53
22
187
140
1486
0.92
0.35
1.9
1.9
1.35
1.34
mmol/l
0.06
125
1311
6
44
1.37
0.34
8.0
1.8
10.05
10.11
mmol/l
—
6
44
29
247
1.19
0.33
1.1
1.3
—
—
—
0
0
6
90
0.66
0.33
1.0
1.1
—
—
—
0
0
6
90
0.66
0.33
2.7
4.8
41.67
40.11
umol/l
—
6
85
35
305
1.16
0.32
6.1
5.3
0.67
0.65
%
—
9
93
25
292
0.85
0.30
2.2
2.3
24.62
17.49
au/ml
—
6
30
332
3245
1.08
0.29
5.1
4.8
37.32
37.41
mmol/mol
0.06
324
3095
361
3540
1.08
0.29
4.8
4.9
1.83
1.85
mu/l
0.09
343
3323
12
151
0.79
0.28
1.4
1.3
—
—
—
0
0
44
394
1.13
0.28
2.0
1.6
987.91
1179.69
nmol/l
0.70
26
315
10
129
0.77
0.28
1.1
1.2
—
—
—
0
0
10
129
0.77
0.28
1.1
1.1
0.80
0.36
u/ml
—
5
57
8
63
1.27
0.28
2.6
4.2
43.50
37.49
%
—
8
63
341
3340
1.07
0.27
3.9
3.8
5.62
5.68
mmol/l
0.43
323
3099
5
71
0.70
0.26
1.8
1.8
—
—
—
0
0
5
72
0.69
0.26
1.0
3.9
—
—
—
0
0
354
3604
0.93
0.26
4.6
4.4
2.67
2.76
mmol/l
1.29
339
3418
23
266
0.86
0.25
1.2
1.2
—
32.82
—
0
17
5
40
1.25
0.22
1.0
1.5
—
—
—
0
0
353
3587
0.94
0.22
4.3
4.1
4.49
4.59
mmol/l
1.46
340
3417
28
248
1.14
0.22
1.2
1.5
—
—
—
0
0
5
42
1.19
0.21
1.2
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.7
—
3.27
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
10.10
—
0
10
0
10
0.00
0.21
0.0
1.0
—
165.10
—
0
10
0
10
0.00
0.21
0.0
1.3
—
51.60
—
0
10
0
12
0.00
0.21
0.0
2.3
—
139.00
—
0
12
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
35
316
1.12
0.21
7.1
5.9
0.00
0.12
%
—
8
83
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
0
13
0.00
0.21
0.0
26.8
—
0.47
—
0
13
0
13
0.00
0.21
0.0
1.3
—
17.40
—
0
5
45
413
1.10
0.20
2.0
2.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
70
742
0.93
0.18
3.0
3.2
89.04
132.00
ug/g
0.75
56
599
113
1178
0.95
0.18
4.0
3.6
8.73
8.69
mmol/l
0.03
103
1053
53
495
1.08
0.17
1.9
1.9
—
—
—
0
0
7
63
1.11
0.17
1.0
1.3
—
—
—
0
0
205
1998
1.05
0.17
3.1
3.3
77.65
90.56
ug/l
0.99
194
1905
352
3566
0.95
0.17
4.3
4.0
1.40
1.40
mmol/l
0.02
338
3383
124
1287
0.95
0.17
2.0
1.9
—
—
—
0
0
8
68
1.18
0.16
1.0
1.0
1.35
1.40
g/l
—
8
62
12
141
0.85
0.16
1.2
1.2
—
—
—
0
0
12
141
0.85
0.16
1.2
1.2
—
—
—
0
0
100
1043
0.95
0.16
4.4
3.5
0.00
0.01
estimate
0.74
39
386
6
77
0.78
0.15
1.0
1.1
—
—
—
0
0
169
1643
1.04
0.15
3.1
2.8
74.75
71.05
nmol/l
1.25
160
1532
6
80
0.75
0.15
1.2
1.1
—
—
—
0
0
12
102
1.18
0.15
1.7
2.5
0.78
0.67
nmol/l
0.21
12
89
19
213
0.89
0.15
2.8
2.6
—
—
—
0
0
29
266
1.10
0.14
1.4
1.6
0.08
0.30
mg/l
6.80
14
116
56
530
1.06
0.13
3.3
2.5
2.43
2.43
mmol/l
0.00
49
467
40
374
1.08
0.13
1.4
1.2
—
—
—
0
0
185
1808
1.04
0.13
5.6
7.1
12.03
12.55
umol/l
0.14
174
1729
33
306
1.08
0.13
7.4
5.6
0.00
0.14
%
—
7
85
19
171
1.12
0.12
1.2
1.2
—
—
—
0
0
339
3352
1.04
0.12
3.6
3.5
1.21
1.24
mmol/l
0.34
322
3170
16
143
1.12
0.11
1.8
1.8
—
—
—
0
0
83
859
0.96
0.10
1.8
2.0
—
—
—
0
0
23
212
1.09
0.10
12.8
14.9
1.36
1.16
mg/l
0.59
23
202
20
218
0.91
0.10
1.5
1.5
—
—
—
0
0
55
526
1.05
0.10
2.0
1.8
—
—
—
0
0
55
526
1.05
0.10
1.9
1.9
—
—
—
0
0
5
45
1.11
0.10
1.4
1.2
—
—
—
0
0
18
196
0.92
0.09
1.1
1.1
1.41
1.50
g/l
0.73
18
196
47
449
1.05
0.09
1.5
1.6
—
—
—
0
0
34
322
1.06
0.08
7.2
5.5
0.14
0.94
%
—
7
101
55
529
1.04
0.08
1.9
1.9
—
—
—
0
0
98
955
1.03
0.08
2.4
2.7
2.79
2.71
mg/l
0.10
88
851
7
66
1.06
0.08
6.4
4.2
—
—
—
0
0
8
74
1.08
0.07
1.4
1.9
—
—
—
0
0
8
74
1.08
0.07
1.4
1.9
—
—
—
0
0
8
74
1.08
0.07
1.4
1.9
—
—
—
0
0
8
74
1.08
0.07
1.4
1.9
—
—
—
0
0
8
75
1.07
0.07
2.0
3.2
11.43
21.77
mu/l
—
8
69
9
104
0.86
0.06
1.2
1.2
—
—
—
0
0
76
741
1.03
0.06
4.6
4.3
1.65
1.99
ug/l
0.32
70
662
47
486
0.96
0.06
1.3
1.2
—
—
—
0
0
132
1341
0.98
0.06
2.1
2.3
—
—
—
0
0
56
544
1.03
0.05
1.3
1.3
—
—
—
0
0
10
90
1.11
0.05
1.1
1.1
—
—
—
0
0
24
228
1.06
0.05
1.3
1.1
—
—
—
0
0
54
526
1.03
0.04
2.0
1.9
—
—
—
0
0
81
825
0.98
0.04
4.5
4.3
5.69
31.45
mg/mmol
0.70
53
560
24
251
0.95
0.04
1.4
1.6
424.39
306.19
mu/l
0.68
18
236
17
180
0.94
0.04
1.2
1.1
1.23
1.29
u/ml
0.02
11
113
40
389
1.03
0.03
4.0
2.8
10.25
9.88
g/l
0.23
40
363
80
813
0.98
0.03
3.8
3.7
27.01
76.79
mg/l
2.94
51
563
132
1307
1.01
0.03
1.6
1.6
3.91
2.46
u/ml
0.22
30
327
17
162
1.05
0.02
2.1
2.0
0.00
0.00
estimate
—
6
61
20
208
0.96
0.02
1.1
1.2
1.69
3.06
u/ml
0.51
13
137
10
93
1.08
0.02
1.3
1.4
12.86
4.16
ug/l
—
10
85
28
288
0.97
0.02
2.5
5.1
76.83
71.23
e9/l
0.26
18
193
49
482
1.02
0.01
1.4
1.6
—
—
—
0
0
30
293
1.03
0.01
4.6
3.4
—
—
—
0
0
46
453
1.02
0.01
2.1
4.7
4.60
7.72
umol/l
2.09
41
394
11
116
0.95
0.00
8.7
11.3
—
—
—
0
0
15
144
1.04
0.00
1.1
1.3
—
—
—
0
0
19
196
0.97
0.00
1.2
1.1
0.83
0.88
g/l
0.52
19
196
16
157
1.02
0.00
1.1
1.3
—
—
—
0
0
95
948
1.00
0.00
1.8
1.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
0.02
—
0
7
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
7
70
1.00
-0.00
5.1
5.4
304.63
393.38
umol/l
—
7
63
0
8
0.00
-0.00
0.0
2.4
—
2.89
—
0
8
6
59
1.02
-0.00
3.3
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
271.00
—
0
5
7
78
0.90
-0.00
1.1
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
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
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
14.34
—
0
5
5
56
0.89
-0.00
1.2
3.1
—
—
—
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
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
7.0
—
—
—
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
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
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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