No definition available.
Other congenital malformations of skull and face bones
Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
134 |
4. Check minimum number of eventsNone |
134 |
5. Include endpointsNone |
134 |
6. Filter based on genotype QC (FinnGen only) |
116 |
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
- Aliae malformationes congenitae ossium cranii et faciei
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of skull and face bones
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations and deformations of the musculoskeletal system, including avohilmo
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- Any operation in hilmo
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3696 | 1272 | 2423 |
| Only index persons | 2224 | 749 | 1475 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.06 | 0.04 | 0.07 |
| Only index persons | 0.05 | 0.03 | 0.06 |
| Median age at first event (years) | |||
| Whole population | 0.83 | 0.91 | 0.77 |
| Only index persons | 1.25 | 1.40 | 1.18 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 116 | 65 | 51 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 3.56 | 4.27 | 2.65 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
No data
CodeWAS
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 128
- Matched controls
- 1280
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q75.3
ICD-10 Finland
Macrocephaly
+∞
44.4
40
*
Q75.00
ICD-10 Finland
Coronary craniosynostosis
+∞
29.3
27
*
AA6AD
NOMESCO Finland
Cranial bones CT examination
323.0
26.8
26
*
ZXE20
NOMESCO Finland
More than three and less than five hours
7.0
22.0
42
83
AAK30
NOMESCO Finland
Craniofacial reconstruction in congenital malformations
+∞
20.3
19
*
Q75.01
ICD-10 Finland
Sagittal craniosynostoos
+∞
19.2
18
*
Q75.9
ICD-10 Finland
Congenital malformation of skull and face bones, unspecified
+∞
19.2
18
*
ZXD10
NOMESCO Finland
Scheduled procedure
4.5
16.2
76
312
QA9S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in head or neck, unspecified
+∞
14.9
14
*
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
31.5
14.8
19
7
EB1MA
NOMESCO Finland
Cephalometry with X-ray
5.4
13.9
33
78
Z31.5
ICD-10 Finland
Genetic counselling
5.4
13.3
31
72
Q75.88
ICD-10 Finland
Other specified congenital malformations of skull and face bones
+∞
12.7
12
*
Q75.1
ICD-10 Finland
Craniofacial dysostosis
+∞
11.6
11
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.6
11.2
54
214
R62.0
ICD-10 Finland
Delayed milestone
5.5
10.7
23
49
Q75.0
ICD-10 Finland
Craniosynostosis
+∞
9.5
9
*
Q67.3
ICD-10 Finland
Plagiocephaly
+∞
9.5
9
*
SBB00
NOMESCO Finland
Clinical photography of mouth and teeth
4.6
9.4
25
64
Q75.08
ICD-10 Finland
Other craniosynostosis
+∞
8.4
8
*
AAK20
NOMESCO Finland
Operations for craniosynostosis
+∞
8.4
8
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.2
8.4
43
173
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.0
8.2
26
76
WX408
NOMESCO Finland
General anesthesy, balanced
2.9
7.8
52
242
ZXE00
NOMESCO Finland
One hour or less
2.8
7.7
68
366
EEC05
NOMESCO Finland
Le Fort I osteotomy
84.8
7.5
8
*
Q87.09
ICD-10 Finland
Other congenital malformations that mainly affect the appearance of the face
84.8
7.5
8
*
Z01.8
ICD-10 Finland
Other specified special examinations
3.1
7.3
40
166
F83
ICD-10 Finland
Mixed specific developmental disorders
4.9
7.2
17
39
ZXE30
NOMESCO Finland
More than five and less than seven hours
4.7
7.0
17
40
R4130
NOMESCO Finland
Speech therapy
4.4
6.7
18
46
SAA04
NOMESCO Finland
Special examination of mouth
3.7
6.7
23
71
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
19.2
6.4
9
5
Q89.7
ICD-10 Finland
Multiple congenital malformations, not elsewhere classified
28.2
6.3
8
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
4.5
6.3
16
39
ZXE40
NOMESCO Finland
More than seven and less than nine hours
7.3
6.2
14
21
TPH07
NOMESCO Finland
Cathetrisation of artery
3.5
6.1
23
75
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
48
250
2.47
5.44
2.2
3.7
—
—
—
0
0
63
417
2.01
3.65
3.1
3.8
—
—
estimate
—
0
0
43
275
1.85
2.59
6.4
11.0
0.61
1.05
mmol/l
0.52
33
200
10
35
3.01
2.26
2.5
1.2
—
—
—
0
0
17
81
2.27
2.25
9.2
25.3
-0.18
0.99
mmol/l
0.57
11
71
13
59
2.34
1.91
10.1
25.8
119.46
126.19
g/l
0.61
13
59
10
42
2.50
1.66
1.5
2.6
77.20
94.43
ml/min/173m2
—
5
14
16
274
0.52
1.62
2.7
2.4
—
—
—
0
0
74
612
1.50
1.41
7.0
6.9
144.29
118.27
u/l
1.27
69
580
118
1089
2.07
1.40
12.2
14.2
24.30
21.69
mg/l
0.33
91
793
0
37
0.00
1.37
0.0
1.6
—
49.60
—
0
30
19
295
0.58
1.36
2.6
2.6
—
—
—
0
0
9
43
2.17
1.33
8.4
41.0
15.68
15.76
%
—
9
43
11
55
2.09
1.31
12.4
26.6
24.18
24.73
mmol/l
0.21
11
55
94
830
1.50
1.20
4.7
3.9
14.40
14.65
pmol/l
0.38
84
765
10
52
2.00
1.09
13.4
28.1
97.94
95.07
%
—
10
52
104
946
1.53
1.06
5.1
4.4
2.15
1.99
mu/l
0.46
97
893
7
35
2.06
1.01
2.6
17.9
25.84
24.68
mmol/l
—
7
35
115
1073
1.71
1.01
18.6
19.3
13.48
13.21
%
1.76
115
1066
10
54
1.92
0.99
13.4
27.1
0.73
0.69
%
—
10
54
36
275
1.43
0.97
10.4
18.4
24.39
24.48
mmol/l
0.06
36
275
33
248
1.45
0.97
4.6
12.9
1.42
0.86
mmol/l
0.76
26
188
10
55
1.89
0.95
13.4
26.7
1.02
1.24
%
—
10
55
6
28
2.20
0.93
3.7
2.7
52.17
67.39
u/ml
—
6
28
20
138
1.53
0.88
2.6
9.9
985.68
942.33
ng/l
0.03
13
113
5
25
2.04
0.73
1.2
1.3
—
—
—
0
0
17
120
1.48
0.69
10.5
15.4
106.88
105.16
mmol/l
0.87
17
120
9
137
0.63
0.65
1.7
1.3
—
23.27
—
0
28
14
96
1.51
0.64
5.4
14.4
86.57
89.09
%
0.13
14
96
13
88
1.53
0.63
2.6
2.8
6.64
9.45
iu/l
—
7
59
30
240
1.33
0.61
2.7
3.5
0.00
0.00
estimate
—
5
82
0
21
0.00
0.60
0.0
1.4
—
0.48
—
0
21
0
23
0.00
0.59
0.0
1.7
—
—
—
0
0
20
155
1.34
0.50
1.8
2.4
—
—
—
0
0
48
419
1.23
0.49
8.7
9.7
34.29
29.01
umol/l
0.24
42
398
52
458
1.23
0.49
4.0
3.7
66.74
68.81
nmol/l
0.28
52
429
7
49
1.45
0.47
3.3
4.3
—
—
—
0
0
8
57
1.43
0.43
1.3
2.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
76.94
—
0
16
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
3.6
—
3.18
—
0
6
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
41
359
1.21
0.40
6.9
10.0
36.70
37.44
g/l
0.40
41
346
6
87
0.67
0.34
1.2
1.3
—
—
—
0
0
30
260
1.20
0.33
1.4
1.7
97.78
93.24
pmol/l
0.18
14
121
6
47
1.29
0.32
1.0
1.2
—
25.40
—
0
5
6
47
1.29
0.32
1.5
1.8
—
—
—
0
0
69
643
1.16
0.31
11.7
8.7
109.54
102.16
ml/min/173m2
1.87
57
518
106
1025
1.20
0.27
3.6
4.0
—
—
—
0
0
78
738
1.15
0.27
10.1
13.7
3.35
3.70
e9/l
0.99
64
612
12
149
0.79
0.27
1.0
1.1
—
—
—
0
0
5
71
0.69
0.27
1.6
1.8
—
—
—
0
0
5
41
1.23
0.22
1.2
1.2
—
—
—
0
0
14
166
0.82
0.22
1.9
2.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
5.23
—
0
5
0
10
0.00
0.21
0.0
1.1
—
38.75
—
0
5
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
0.78
—
0
12
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
0
13
0.00
0.21
0.0
5.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
26
289
0.87
0.20
3.0
3.0
2.38
2.41
mmol/l
0.36
21
271
6
51
1.18
0.19
1.7
2.1
—
—
—
0
0
15
128
1.19
0.19
1.7
2.2
—
—
—
0
0
20
177
1.15
0.17
3.4
3.3
8.56
17.39
ng/l
1.75
12
84
19
168
1.15
0.17
1.5
3.4
13.55
14.30
umol/l
0.16
19
163
74
713
1.09
0.15
3.8
3.3
5.74
5.52
mmol/l
0.65
67
654
10
84
1.21
0.14
2.4
1.3
—
—
—
0
0
36
337
1.09
0.13
2.1
3.1
0.00
0.01
estimate
—
6
70
27
252
1.09
0.10
2.3
2.8
1.02
1.02
kg/l
1.24
21
169
6
56
1.07
0.09
2.7
2.4
—
—
—
0
0
16
146
1.11
0.08
2.6
5.2
1037.73
678.03
ng/l
0.27
11
89
51
528
0.94
0.08
3.4
3.7
0.00
0.00
estimate
—
6
82
14
127
1.11
0.08
1.8
2.3
—
—
—
0
0
11
98
1.13
0.08
1.5
1.4
627273128.91
447.14
pmol/l
0.47
11
87
51
526
0.95
0.07
3.4
3.8
0.00
0.00
estimate
—
6
83
49
501
0.96
0.03
1.7
1.9
8.49
2.00
u/ml
—
8
76
51
520
0.97
0.03
3.2
3.7
0.00
0.00
estimate
—
6
86
12
127
0.94
0.01
1.3
1.3
1.43
8.47
u/ml
—
7
46
50
506
0.98
0.00
1.9
2.0
—
—
—
0
0
18
184
0.97
0.00
1.8
2.5
—
—
—
0
0
36
361
1.00
0.00
3.7
4.6
0.36
0.25
e6/l
0.36
28
266
25
247
1.02
0.00
3.2
4.2
2.83
0.64
e6/l
0.54
13
139
24
243
0.98
0.00
2.2
2.7
0.00
0.00
estimate
—
6
67
14
135
1.04
0.00
1.1
1.6
—
—
—
0
0
25
245
1.03
0.00
3.1
4.1
1.85
1.59
e6/l
0.11
13
138
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
55.20
—
0
5
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
42.38
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
29.50
—
0
6
0
9
0.00
-0.00
0.0
8.4
—
—
—
0
0
8
79
1.01
-0.00
1.5
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.2
—
719.22
—
0
9
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
2.12
—
0
8
0
8
0.00
-0.00
0.0
1.4
—
104.25
—
0
8
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
123
1227
1.06
-0.00
21.3
20.5
86.63
86.67
fl
0.03
123
1217
123
1227
1.06
-0.00
22.5
22.3
39.18
39.84
%
0.91
123
1217
123
1228
1.04
-0.00
21.7
21.2
130.93
133.83
g/l
1.39
123
1218
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.6
—
21.43
—
0
7
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
8
83
0.96
-0.00
1.3
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES – Other congenital malformations of skull and face bones
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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