This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
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. |
41 |
4. Check minimum number of eventsNone |
41 |
5. Include endpointsNone |
41 |
6. Filter based on genotype QC (FinnGen only) |
38 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Similar endpoints
↥List of similar endpoints to
Macrocephaly
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations of skull and face bones
- 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
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 38 | 20 | 18 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 2.01 | 2.16 | 1.85 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
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.
No data available
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
7
20
4.01
2.17
6.9
16.3
5.28
5.41
kpa
—
7
20
7
20
4.01
2.17
6.9
16.2
15.64
13.76
kpa
—
7
20
9
36
2.93
1.88
1.7
4.6
22.00
18.87
nmol/l
—
9
36
5
16
3.41
1.48
9.0
17.8
120.80
117.69
g/l
—
5
16
15
91
2.04
1.23
2.6
4.8
0.89
1.12
e6/l
—
9
57
25
188
1.88
1.05
8.0
9.2
5.56
5.80
mmol/l
0.45
25
178
34
287
2.23
1.04
5.4
4.1
2.22
2.16
mu/l
0.11
34
273
0
29
0.00
1.02
0.0
9.1
—
793.12
—
0
24
14
90
1.85
0.94
2.7
4.8
0.26
0.56
e6/l
—
8
56
16
111
1.74
0.83
8.8
12.5
-0.31
1.02
mmol/l
—
9
83
9
53
1.90
0.83
1.7
2.6
381.89
330.17
nmol/l
—
9
53
11
68
1.85
0.82
3.1
3.6
—
—
—
0
0
0
27
0.00
0.80
0.0
2.5
—
108.22
—
0
9
0
27
0.00
0.80
0.0
2.6
—
—
—
0
0
5
28
1.89
0.68
11.4
6.3
116.20
161.46
%
—
5
28
8
48
1.83
0.68
7.9
5.0
0.43
2.72
mg/l
—
8
34
8
53
1.63
0.63
2.1
2.8
399.75
156.75
u/l
—
8
53
0
20
0.00
0.62
0.0
1.3
—
—
—
0
0
15
110
1.58
0.60
4.1
3.4
—
—
estimate
—
0
0
0
23
0.00
0.60
0.0
2.3
—
95.42
—
0
10
22
180
1.49
0.53
13.3
16.0
1.23
1.24
mmol/l
0.24
22
174
21
171
1.48
0.51
2.1
2.1
—
—
—
0
0
15
186
0.69
0.45
2.0
2.1
—
3.38
—
0
29
5
32
1.64
0.44
12.0
6.7
98.40
85.91
%
—
5
32
17
136
1.43
0.44
4.1
5.2
—
—
—
0
0
23
195
1.42
0.43
3.0
6.0
198.48
150.52
u/l
1.10
23
189
0
17
0.00
0.41
0.0
1.9
—
348.62
—
0
9
28
248
1.43
0.39
11.3
11.6
3.01
3.67
e9/l
1.18
23
199
34
314
1.55
0.38
8.7
9.0
24.44
25.16
u/l
0.09
34
306
6
42
1.50
0.38
2.3
2.1
—
—
—
0
0
15
120
1.40
0.37
13.5
16.1
23.20
24.53
mmol/l
1.16
15
120
6
43
1.46
0.37
2.3
2.0
—
—
—
0
0
8
108
0.68
0.35
2.5
2.5
1.43
2.38
mg/l
—
8
98
12
95
1.38
0.31
1.5
2.6
—
0.00
estimate
—
0
20
8
62
1.36
0.31
1.5
2.2
—
0.00
estimate
—
0
19
15
124
1.34
0.30
3.8
5.1
0.50
0.12
e6/l
—
10
90
33
311
1.35
0.26
17.8
14.9
4.10
3.97
mmol/l
1.20
33
305
16
138
1.27
0.22
2.3
4.5
63.57
68.20
nmol/l
0.52
16
130
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
0.83
—
0
11
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
6
50
1.23
0.21
2.5
2.2
—
—
—
0
0
11
95
1.22
0.13
8.8
10.4
23.45
23.22
mmol/l
0.26
11
95
17
182
0.89
0.07
4.3
3.5
35.94
35.60
mmol/mol
0.07
17
171
11
115
0.94
0.00
9.5
7.4
32.09
28.84
umol/l
0.07
11
110
16
157
1.03
0.00
5.3
6.2
115.45
110.10
ml/min/173m2
0.42
11
118
19
189
1.01
0.00
2.2
3.2
32.98
53.16
ug/l
1.43
19
179
0
5
0.00
0.00
0.0
2.8
—
1.24
—
0
5
0
5
0.00
0.00
0.0
1.0
—
2.45
—
0
5
0
5
0.00
0.00
0.0
1.0
—
105.60
—
0
5
0
5
0.00
0.00
0.0
1.0
—
10.44
—
0
5
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
1.4
—
—
—
0
0
5
55
0.90
0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
6.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
2.54
—
0
7
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.3
—
—
—
0
0
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
8
0.00
-0.00
0.0
3.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
4.6
—
92.11
—
0
9
0
8
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
0.81
—
0
8
5
54
0.92
-0.00
2.8
3.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
46.53
—
0
9
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
35
346
1.09
-0.00
3.2
3.9
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_MACROCEPHALY – Macrocephaly
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).