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 |
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. |
128 |
4. Check minimum number of eventsNone |
128 |
5. Include endpointsNone |
128 |
6. Filter based on genotype QC (FinnGen only) |
117 |
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
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities
- 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 | 117 | 65 | 52 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 3.53 | 4.27 | 2.61 |
-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
*
Q75.9
ICD-10 Finland
Congenital malformation of skull and face bones, unspecified
+∞
19.2
18
*
Q75.01
ICD-10 Finland
Sagittal craniosynostoos
+∞
19.2
18
*
ZXD10
NOMESCO Finland
Scheduled procedure
4.6
16.2
76
311
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
Z31.5
ICD-10 Finland
Genetic counselling
5.9
14.7
31
66
EB1MA
NOMESCO Finland
Cephalometry with X-ray
5.3
13.4
32
76
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
11.1
54
215
R62.0
ICD-10 Finland
Delayed milestone
5.3
10.2
23
51
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
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.3
8.5
42
165
Q75.08
ICD-10 Finland
Other craniosynostosis
+∞
8.4
8
*
AAK20
NOMESCO Finland
Operations for craniosynostosis
+∞
8.4
8
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.1
8.3
26
75
WX408
NOMESCO Finland
General anesthesy, balanced
3.0
7.9
52
240
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
7.4
39
158
F83
ICD-10 Finland
Mixed specific developmental disorders
5.0
7.4
17
38
R4130
NOMESCO Finland
Speech therapy
4.6
7.1
18
44
ZXE30
NOMESCO Finland
More than five and less than seven hours
4.7
7.0
17
40
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
*
ZXE40
NOMESCO Finland
More than seven and less than nine hours
7.3
6.2
14
21
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
42
226
2.28
4.28
1.9
3.6
—
—
—
0
0
77
558
1.95
3.33
5.4
10.5
6.47
5.94
mmol/l
0.56
72
510
56
384
1.81
2.71
2.7
3.6
—
—
—
0
0
43
273
1.87
2.66
5.7
10.6
0.50
1.17
mmol/l
0.90
33
195
10
37
2.84
2.12
2.5
1.2
—
—
—
0
0
115
1041
2.03
1.64
9.8
12.7
19.48
22.23
mg/l
0.47
83
729
36
251
1.60
1.52
4.5
7.3
1.01
1.15
inr
—
8
70
87
748
1.51
1.34
4.2
3.4
14.27
14.58
pmol/l
0.47
77
686
98
868
1.55
1.27
4.5
3.8
2.18
1.99
mu/l
0.53
89
812
15
244
0.56
1.27
2.6
2.2
—
—
—
0
0
6
25
2.47
1.26
2.0
2.6
52.17
74.52
u/ml
—
6
25
0
34
0.00
1.18
0.0
1.4
—
52.85
—
0
27
13
73
1.87
1.16
4.5
24.8
1.61
1.14
mmol/l
—
7
63
7
31
2.33
1.12
2.6
19.5
25.84
24.88
mmol/l
—
7
31
113
1045
1.69
1.10
15.4
17.1
14.29
13.56
%
0.87
113
1035
27
193
1.51
1.01
1.2
1.6
104.15
93.48
pmol/l
0.59
13
92
9
49
1.90
1.01
3.7
26.3
128.78
127.00
g/l
—
9
49
18
264
0.63
1.01
2.6
2.4
—
—
—
0
0
12
72
1.74
0.88
2.3
2.7
3.70
8.72
iu/l
—
7
51
27
199
1.45
0.88
2.0
3.6
0.00
0.00
estimate
—
5
66
31
235
1.42
0.87
4.3
11.8
1.38
1.00
mmol/l
0.42
24
169
34
266
1.38
0.80
7.0
16.5
24.41
24.42
mmol/l
0.01
34
266
45
372
1.32
0.74
6.6
9.7
36.08
33.01
umol/l
0.11
38
349
17
119
1.49
0.71
2.1
9.7
955.88
1025.58
ng/l
—
9
100
67
589
1.29
0.69
3.9
3.7
35.50
37.03
mmol/mol
1.01
62
547
23
173
1.40
0.68
3.5
5.7
0.65
2.34
mg/l
0.87
18
134
7
113
0.60
0.61
1.3
1.5
—
—
—
0
0
103
972
1.31
0.53
7.5
9.7
26.58
27.39
u/l
0.16
97
939
123
1197
1.71
0.47
17.2
18.5
130.93
133.30
g/l
1.03
123
1187
5
83
0.59
0.47
1.2
1.2
—
—
—
0
0
7
49
1.45
0.47
3.3
4.3
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
77.27
—
0
15
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
0
16
0.00
0.41
0.0
1.6
—
—
—
0
0
46
515
0.83
0.40
4.3
4.6
47.90
30.38
u/l
0.82
41
498
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
0
19
0.00
0.39
0.0
1.8
—
—
—
0
0
13
98
1.36
0.39
5.8
13.7
105.62
105.11
mmol/l
0.15
13
98
8
115
0.68
0.39
1.6
1.2
—
25.62
—
0
24
12
90
1.37
0.37
5.6
15.0
84.42
86.41
%
0.09
12
90
6
44
1.38
0.35
1.0
1.2
—
25.40
—
0
5
19
155
1.27
0.35
2.9
3.3
8.97
17.86
ng/l
—
10
73
6
45
1.35
0.34
1.5
1.8
—
—
—
0
0
36
319
1.18
0.31
6.2
9.7
36.94
37.08
g/l
0.06
36
307
7
54
1.31
0.31
1.1
2.0
—
—
—
0
0
17
140
1.25
0.29
1.6
2.3
—
—
—
0
0
5
72
0.68
0.27
1.2
1.3
—
—
—
0
0
42
383
1.14
0.25
4.2
3.4
66.42
70.47
nmol/l
0.74
42
356
6
81
0.73
0.25
1.0
1.4
—
—
—
0
0
32
287
1.15
0.24
1.9
3.1
—
—
—
0
0
61
572
1.13
0.24
8.7
7.5
108.03
103.01
ml/min/173m2
0.87
45
403
11
88
1.27
0.23
1.5
1.4
627273128.91
464.95
pmol/l
0.47
11
78
0
11
0.00
0.21
0.0
5.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
5.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
38.75
—
0
5
0
13
0.00
0.21
0.0
6.5
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
6
50
1.21
0.20
2.7
2.5
—
—
—
0
0
18
156
1.18
0.20
1.8
2.0
—
—
—
0
0
73
701
1.10
0.16
9.3
12.4
3.35
3.71
e9/l
0.96
60
588
10
83
1.22
0.16
2.2
1.3
—
—
—
0
0
104
1018
1.12
0.14
3.6
4.0
—
—
—
0
0
13
113
1.17
0.13
1.6
2.2
—
—
—
0
0
66
636
1.08
0.12
3.6
2.9
5.79
5.58
mmol/l
0.50
59
583
12
136
0.87
0.11
1.0
1.1
—
—
—
0
0
15
134
1.14
0.11
2.3
5.2
1040.10
739.39
ng/l
—
10
85
23
212
1.10
0.11
2.4
4.0
3.14
0.59
e6/l
0.66
13
134
23
248
0.91
0.10
3.2
3.1
2.39
2.41
mmol/l
0.22
17
230
5
43
1.17
0.10
1.6
2.0
—
—
—
0
0
5
44
1.14
0.10
7.6
28.0
24.00
24.70
mmol/l
—
5
44
5
47
1.07
0.09
7.6
26.4
1.02
1.28
%
—
5
47
5
48
1.04
0.09
7.6
25.9
0.90
0.71
%
—
5
48
23
214
1.09
0.09
2.5
3.9
1.85
1.62
e6/l
0.10
13
136
45
432
1.06
0.08
3.5
5.0
0.00
0.00
estimate
—
6
68
5
64
0.77
0.08
1.2
1.5
—
—
—
0
0
6
70
0.85
0.08
1.2
1.6
—
—
—
0
0
8
74
1.09
0.07
1.5
1.4
—
—
—
0
0
45
436
1.05
0.06
2.6
3.4
0.00
0.00
estimate
—
6
64
45
437
1.05
0.05
2.6
3.4
0.00
0.00
estimate
—
6
66
47
460
1.03
0.03
1.8
1.9
—
—
—
0
0
38
371
1.03
0.02
3.2
4.4
—
—
—
0
0
12
113
1.07
0.02
1.7
2.1
—
—
—
0
0
13
126
1.04
0.00
1.2
1.4
—
—
—
0
0
33
327
1.01
0.00
3.3
4.4
0.40
0.25
e6/l
0.49
26
254
11
112
0.98
0.00
1.3
1.2
1.60
9.19
u/ml
—
5
42
14
135
1.04
0.00
1.9
1.9
—
—
—
0
0
45
454
0.99
0.00
1.6
1.7
9.56
2.28
u/ml
—
7
64
67
666
1.01
0.00
3.0
4.8
8.40
8.74
mm/h
0.10
62
624
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
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
1.2
—
1.15
—
0
5
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
42.38
—
0
5
0
5
0.00
0.00
0.0
2.8
—
—
—
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
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
7.0
—
—
—
0
0
0
9
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
—
2.53
—
0
6
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
679.88
—
0
8
0
7
0.00
-0.00
0.0
3.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.3
—
20.00
—
0
7
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
2050.29
—
0
7
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
7
72
0.97
-0.00
1.3
1.7
—
—
—
0
0
0
7
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
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
8.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
104.25
—
0
8
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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