Craniosynostosis EXCLUDE syndromes

Q17_CRANIOSYNOSTOSIS

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

  • not Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1
519866

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

Registry filters:

  • Hospital discharge: ICD-10 Q75.0
  • Hospital discharge: ICD-9 7560A
  • Hospital discharge: ICD-8 75600
  • Cause of death: ICD-10 Q75.0
  • Cause of death: ICD-9 7560A
  • Cause of death: ICD-8 75600

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

75

4. Check minimum number of events

None

75

5. Include endpoints

None

75

6. Filter based on genotype QC (FinnGen only)

69

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF10

Case counts by codes

FinnGen case counts by registry codes:

No upset plot: unknown.

No upset table: unknown.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2233 737 1495
Only index persons 1589 533 1056
Unadjusted period prevalence (%)
Whole population 0.03 0.02 0.04
Only index persons 0.03 0.02 0.04
Median age at first event (years)
Whole population 0.67 0.74 0.60
Only index persons 0.75 0.84 0.70

-FinnGen-

Key figures

All Female Male
Number of individuals 69 39 30
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 0.90 1.18 0.52

-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
75
Matched controls
750
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q75.00
ICD-10 Finland
Coronary craniosynostosis
+∞
25.5
23
*
75600
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Craniosynostosis (craniosternosis)
+∞
23.1
21
*
AA6AD
NOMESCO Finland
Cranial bones CT examination
267.8
20.6
20
*
AAK30
NOMESCO Finland
Craniofacial reconstruction in congenital malformations
+∞
18.5
17
*
Q75.01
ICD-10 Finland
Sagittal craniosynostoos
+∞
18.5
17
*
7560A
ICD-9 Finland
Other congenital musculoskeletal anomalies, Anomalies of skull and face bones[CRANIOSYNOSTOSIS]
+∞
16.2
15
*
QA9S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in head or neck, unspecified
+∞
14.0
13
*
ZXD10
NOMESCO Finland
Scheduled procedure
5.8
13.2
46
160
ZXE20
NOMESCO Finland
More than three and less than five hours
6.7
11.3
22
44
ZXE00
NOMESCO Finland
One hour or less
4.9
10.5
48
199
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
30.9
10.2
13
5
Q75.0
ICD-10 Finland
Craniosynostosis
+∞
8.5
8
*
Q75.08
ICD-10 Finland
Other craniosynostosis
+∞
7.4
7
*
ZXE40
NOMESCO Finland
More than seven and less than nine hours
12.6
6.5
11
10
AAK20
NOMESCO Finland
Operations for craniosynostosis
+∞
6.3
6
*

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
27
153
2.19
2.53
1.6
3.3
—
—
—
0
0
32
203
2.01
2.18
1.7
1.6
—
—
—
0
0
70
630
2.66
1.55
7.7
8.6
—
—
—
0
0
7
29
2.56
1.43
1.1
2.0
—
—
—
0
0
5
17
3.07
1.38
6.4
60.6
—
—
—
0
0
19
117
1.84
1.34
6.1
10.2
—
—
—
0
0
5
20
2.60
1.17
9.2
29.9
1.40
1.24
%
—
5
20
5
20
2.60
1.17
9.2
29.8
96.70
94.57
%
—
5
20
5
20
2.60
1.17
1.2
1.2
—
—
—
0
0
5
21
2.48
1.11
9.2
28.5
0.92
0.72
%
—
5
21
5
22
2.36
1.05
2.6
1.7
—
—
—
0
0
0
28
0.00
1.00
0.0
1.5
—
1.97
—
0
19
0
28
0.00
1.00
0.0
1.6
—
4.22
—
0
19
30
372
0.68
0.84
3.6
4.4
—
—
—
0
0
0
27
0.00
0.79
0.0
1.1
—
—
—
0
0
13
86
1.62
0.72
1.2
1.5
—
—
—
0
0
10
152
0.61
0.70
2.3
3.0
2.72
2.61
mg/l
—
10
135
27
212
1.43
0.69
1.3
1.7
2.03
1.80
g/l
0.31
15
108
5
28
1.84
0.67
1.4
1.4
—
—
—
0
0
7
44
1.65
0.67
1.0
1.5
—
—
—
0
0
7
44
1.65
0.67
1.7
1.7
—
—
—
0
0
19
140
1.48
0.67
4.3
7.1
1.08
1.11
inr
—
6
32
5
29
1.77
0.65
1.8
2.3
—
—
—
0
0
0
20
0.00
0.61
0.0
1.3
—
2.03
—
0
13
8
123
0.61
0.61
2.8
3.0
—
—
—
0
0
0
22
0.00
0.60
0.0
4.7
—
—
—
0
0
0
23
0.00
0.59
0.0
1.2
—
—
—
0
0
9
63
1.49
0.55
1.2
1.5
—
—
—
0
0
9
64
1.46
0.54
1.2
1.5
—
—
—
0
0
9
64
1.46
0.54
1.2
1.5
—
—
—
0
0
27
222
1.34
0.51
1.4
1.5
0.44
2.20
u/ml
—
9
34
7
48
1.50
0.48
1.4
1.2
—
—
—
0
0
7
48
1.50
0.48
6.0
16.6
106.57
105.04
mmol/l
—
7
48
7
49
1.47
0.47
1.3
1.6
—
—
—
0
0
55
505
1.33
0.45
3.3
3.8
1.81
1.93
mu/l
0.33
48
480
14
105
1.41
0.45
2.2
9.2
23.29
23.31
mmol/l
0.01
14
105
5
33
1.55
0.42
1.4
1.7
—
—
—
0
0
30
345
0.78
0.42
3.7
9.6
—
—
—
0
0
8
60
1.37
0.42
1.3
1.5
—
—
—
0
0
0
15
0.00
0.41
0.0
2.0
—
3.70
—
0
5
0
15
0.00
0.41
0.0
3.6
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.5
—
347.71
—
0
7
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
14.9
—
197.47
—
0
11
0
16
0.00
0.41
0.0
2.3
—
—
—
0
0
8
114
0.67
0.41
2.6
3.3
631.50
584.21
mosm/kgh2o
—
8
94
0
19
0.00
0.39
0.0
1.7
—
3.36
—
0
19
9
69
1.35
0.39
2.2
3.8
—
—
—
0
0
13
165
0.74
0.37
1.9
1.8
—
—
—
0
0
13
100
1.36
0.36
2.2
2.5
13.67
37.08
ng/l
—
6
41
36
400
0.81
0.35
3.1
11.1
3.98
3.83
e9/l
0.18
31
344
14
110
1.34
0.35
5.4
13.9
—
—
—
0
0
8
64
1.28
0.28
1.3
1.5
—
—
—
0
0
6
80
0.73
0.25
3.0
7.7
4.70
5.22
umol/l
—
6
69
5
40
1.27
0.23
1.4
1.4
985.42
1166.72
nmol/l
—
5
30
9
111
0.79
0.22
1.8
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
64.6
—
6.61
—
0
10
0
10
0.00
0.21
0.0
5.2
—
28.80
—
0
10
0
10
0.00
0.21
0.0
1.1
—
128.45
—
0
10
0
12
0.00
0.21
0.0
13.8
—
881.42
—
0
12
0
12
0.00
0.21
0.0
6.0
—
3.28
—
0
12
0
12
0.00
0.21
0.0
14.9
—
1704.83
—
0
12
0
12
0.00
0.21
0.0
1.6
—
77.29
—
0
7
46
432
1.17
0.21
3.3
3.3
14.45
14.37
pmol/l
0.07
38
399
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
48
1.27
0.21
1.0
1.0
—
—
—
0
0
6
48
1.27
0.21
1.0
1.0
—
-2.49
—
0
10
6
48
1.27
0.21
1.0
1.0
19.00
19.13
mmol/l
—
6
48
0
14
0.00
0.20
0.0
1.3
—
4.10
—
0
14
19
215
0.84
0.20
3.2
5.6
117.25
28.19
e6/l
0.53
12
152
7
57
1.25
0.19
1.0
1.4
—
—
—
0
0
7
60
1.18
0.18
2.7
1.8
—
—
—
0
0
12
141
0.82
0.18
2.0
1.7
—
—
—
0
0
5
67
0.73
0.18
1.4
3.2
—
—
—
0
0
18
200
0.87
0.14
2.3
2.1
—
—
—
0
0
28
259
1.13
0.14
2.6
2.3
—
—
—
0
0
18
163
1.14
0.12
2.3
3.6
—
—
—
0
0
27
288
0.90
0.11
2.4
3.2
45.52
57.16
ug/l
0.74
27
273
5
60
0.82
0.08
2.6
2.1
10.98
14.72
nmol/l
—
5
52
5
63
0.78
0.08
1.8
1.7
—
—
—
0
0
19
204
0.91
0.08
2.0
8.8
—
—
—
0
0
17
157
1.11
0.08
2.1
2.0
—
—
—
0
0
9
104
0.85
0.07
1.6
1.2
—
—
—
0
0
17
160
1.08
0.04
1.3
1.8
—
—
—
0
0
12
111
1.10
0.04
2.5
4.1
—
—
—
0
0
16
168
0.94
0.02
2.9
4.5
—
—
—
0
0
14
134
1.06
0.01
1.4
1.5
120.27
94.45
pmol/l
—
7
69
15
147
1.03
0.00
1.8
2.6
—
—
—
0
0
62
621
0.99
0.00
8.4
11.6
16.74
22.35
mg/l
1.01
53
442
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
2.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
31.25
—
0
8
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
1926.50
—
0
6
0
9
0.00
-0.00
0.0
1.4
—
221.89
—
0
9
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
9.4
—
113.60
—
0
5
0
9
0.00
-0.00
0.0
1.4
—
40.98
—
0
9
0
7
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
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
16
160
1.00
-0.00
1.8
2.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.9
—
11.07
—
0
9
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
7
70
1.00
-0.00
1.3
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.3
—
—
—
0
0
9
93
0.96
-0.00
1.1
5.2
277.00
311.20
umol/l
—
9
87
0
5
0.00
-0.00
0.0
2.2
—
82.00
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
1.36
—
0
6
0
6
0.00
-0.00
0.0
3.0
—
1.15
—
0
6
0
7
0.00
-0.00
0.0
1.9
—
1.13
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
32.46
—
0
6
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
13.50
—
0
5
0
5
0.00
-0.00
0.0
12.8
—
7.70
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.4
—
6.46
—
0
5
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
56
0.89
-0.00
2.6
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
0.60
—
0
6
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
33.57
—
0
7
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.5
—
34183.33
—
0
6

Mortality – FinRegistry

Association

Association between endpoint Q17_CRANIOSYNOSTOSIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CRANIOSYNOSTOSIS.

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_CRANIOSYNOSTOSIS – Craniosynostosis EXCLUDE syndromes

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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