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Congenital malformation syndromes due to known exogenous causes, not elsewhere classified

Q17_CONGEN_MALFO_SYNDR_KNOWN_EXOGE_CAUSES_NOT_ELSEW_CLASSIFIED

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 Q86
  • Cause of death: ICD-10 Q86

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

53

4. Check minimum number of events

None

53

5. Include endpoints

None

53

6. Filter based on genotype QC (FinnGen only)

42

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q8
Name in latin
Syndromata malformationum congenitarum e causis externis notis non alibi classificata

Similar endpoints

List of similar endpoints to Congenital malformation syndromes due to known exogenous causes, not elsewhere classified 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 1153 503 650
Only index persons 998 447 551
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population - 6.49 7.16
Only index persons 7.22 6.84 7.54

-FinnGen-

Key figures

All Female Male
Number of individuals 42 23 19
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 18.00 14.33 22.44

-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

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
26
76
6.42
9.35
4.8
4.6
7.39
7.39
ph
0.29
21
55
24
90
4.41
5.90
4.5
2.3
0.23
0.31
e6/l
0.21
18
65
19
69
3.94
4.72
5.9
3.4
—
—
—
0
0
28
139
3.51
4.25
5.1
3.0
46.34
32.69
e6/l
0.24
22
89
21
88
3.51
4.15
3.4
2.4
—
—
estimate
—
0
0
31
166
3.55
4.14
11.4
5.5
9.60
11.36
umol/l
0.69
31
156
8
13
7.16
3.67
29.3
5.2
94.26
95.22
%
—
8
13
12
33
4.52
3.62
2.2
1.7
—
—
—
0
0
11
30
4.46
3.36
6.5
2.4
5.35
5.04
kpa
0.22
11
30
8
15
6.18
3.35
26.5
4.9
123.63
125.00
g/l
—
8
15
10
25
4.79
3.32
29.2
5.4
99.00
105.00
mmol/l
—
10
25
9
20
5.30
3.31
2.3
1.8
—
—
—
0
0
7
13
6.11
2.99
33.1
5.2
1.61
1.25
%
—
7
13
7
13
6.11
2.99
33.1
5.2
0.60
0.60
%
—
7
13
6
9
7.44
2.96
22.8
3.0
17.20
17.28
%
—
6
9
8
19
4.84
2.82
29.9
4.2
96.45
96.69
%
—
8
19
22
116
2.69
2.71
12.2
4.5
33.48
37.74
g/l
2.14
22
110
6
11
6.07
2.63
27.7
5.3
23.33
23.15
mmol/l
—
6
11
10
32
3.69
2.63
24.5
4.1
—
—
—
0
0
8
21
4.37
2.60
16.3
6.4
23.74
24.78
mmol/l
—
8
21
9
28
3.72
2.46
2.9
2.4
25.72
23.56
mmol/l
—
9
28
18
90
2.62
2.42
2.6
2.4
—
—
—
0
0
8
23
3.97
2.39
29.9
3.9
5.14
5.05
kpa
—
8
23
8
23
3.97
2.39
29.9
3.9
10.86
15.11
kpa
—
8
23
17
83
2.64
2.39
4.8
2.4
81.41
95.48
%
1.51
17
83
7
18
4.37
2.35
6.6
3.3
—
—
—
0
0
7
19
4.14
2.25
4.3
8.4
—
—
—
0
0
19
101
2.48
2.23
4.1
2.7
—
—
—
0
0
18
94
2.48
2.18
3.3
2.5
50.22
56.43
u/l
1.06
18
87
9
32
3.23
2.14
2.4
2.2
450.89
404.22
nmol/l
—
9
32
5
11
4.94
1.99
11.8
3.3
134.40
129.36
g/l
—
5
11
5
11
4.94
1.99
11.8
3.4
0.64
0.68
%
—
5
11
11
47
2.75
1.95
2.4
2.2
55.00
344.14
ng/l
—
5
21
33
235
2.36
1.90
14.3
8.5
4.31
3.61
e9/l
1.15
26
205
5
12
4.52
1.87
11.8
3.2
2.06
1.70
%
—
5
12
30
207
2.24
1.84
9.7
5.7
0.64
0.54
e9/l
1.37
23
188
30
208
2.22
1.80
9.7
5.7
0.05
0.04
e9/l
1.41
23
188
28
189
2.19
1.80
13.9
7.5
0.00
0.00
e9/l
-0.00
18
152
30
214
2.11
1.60
9.7
5.6
1.96
2.05
e9/l
0.23
25
199
20
123
2.09
1.58
13.8
5.6
—
—
—
0
0
8
154
0.42
1.51
4.1
2.5
—
—
—
0
0
20
127
2.00
1.43
8.2
5.5
—
—
—
0
0
30
220
2.01
1.42
10.5
5.6
0.24
0.19
e9/l
0.45
25
201
6
23
2.84
1.41
1.5
1.2
—
—
—
0
0
9
43
2.35
1.40
1.3
1.3
—
—
—
0
0
25
173
1.95
1.39
5.7
2.8
6.27
6.18
ph
0.12
15
100
0
34
0.00
1.21
0.0
1.3
—
—
—
0
0
15
95
1.85
1.03
4.7
2.7
29.31
18.77
ng/l
—
9
48
27
205
1.75
1.02
6.7
3.2
0.00
0.00
estimate
—
9
44
17
114
1.77
0.97
3.5
1.9
—
—
—
0
0
6
28
2.31
0.95
1.5
1.6
—
—
—
0
0
6
29
2.22
0.93
1.2
1.6
—
—
—
0
0
27
209
1.69
0.92
6.7
3.2
0.00
0.00
estimate
—
9
46
8
133
0.52
0.91
2.4
2.0
—
—
—
0
0
6
30
2.14
0.90
1.8
2.2
9.83
10.44
g/l
—
6
30
27
210
1.67
0.89
6.7
3.3
0.00
0.00
estimate
—
9
46
21
154
1.66
0.86
1.8
2.6
—
—
—
0
0
8
47
1.84
0.86
1.3
1.2
—
—
—
0
0
9
52
1.90
0.82
1.2
1.7
—
—
—
0
0
15
105
1.63
0.71
2.5
2.8
2.32
2.35
mmol/l
0.68
15
97
18
133
1.57
0.69
1.7
1.6
82.86
95.88
pmol/l
—
7
57
21
161
1.55
0.69
6.9
2.9
0.00
0.03
estimate
—
7
40
0
21
0.00
0.61
0.0
1.6
—
3.63
—
0
7
6
96
0.57
0.60
1.3
1.7
—
—
—
0
0
6
40
1.57
0.54
1.5
2.3
—
—
—
0
0
7
49
1.50
0.48
2.0
1.7
—
—
—
0
0
21
171
1.41
0.48
5.1
2.5
—
—
estimate
—
0
0
14
106
1.46
0.46
7.1
3.6
0.00
0.00
estimate
—
8
43
38
347
1.50
0.42
29.2
12.2
13.70
13.26
%
1.08
38
341
0
16
0.00
0.42
0.0
1.0
—
1.51
—
0
16
0
16
0.00
0.42
0.0
1.0
—
0.93
—
0
16
5
34
1.53
0.42
3.0
2.9
—
—
—
0
0
5
36
1.43
0.39
2.6
2.0
14.88
12.58
nmol/l
—
5
36
17
141
1.32
0.32
1.5
1.7
—
—
—
0
0
14
117
1.28
0.24
1.5
1.5
2.01
2.06
g/l
—
7
71
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
11
90
1.29
0.21
1.8
1.7
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
333.60
—
0
5
6
52
1.18
0.20
1.7
1.3
—
—
—
0
0
7
58
1.24
0.19
1.6
1.4
—
—
—
0
0
7
62
1.15
0.18
1.6
1.4
—
—
—
0
0
6
75
0.77
0.17
2.2
2.8
118.12
107.65
ug/g
—
6
50
21
190
1.19
0.17
2.8
3.1
43.10
67.17
ug/l
1.43
21
184
36
343
1.21
0.14
5.8
4.2
2.61
2.78
mmol/l
0.57
31
325
5
44
1.15
0.10
1.0
1.1
—
—
—
0
0
7
63
1.13
0.08
1.6
1.4
—
—
—
0
0
7
63
1.13
0.08
1.6
1.4
—
—
—
0
0
7
63
1.13
0.08
1.6
1.4
—
—
—
0
0
12
119
1.01
0.00
1.4
1.9
—
—
—
0
0
12
124
0.96
0.00
7.0
2.6
0.00
0.00
estimate
—
7
37
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
3.7
—
22.00
—
0
7
0
7
0.00
0.00
0.0
1.1
—
111.43
—
0
7
0
8
0.00
-0.00
0.0
1.0
—
—
—
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
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
29.58
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
8
88
0.89
-0.00
9.5
6.0
—
—
—
0
0
13
130
1.00
-0.00
2.1
2.0
—
—
—
0
0
41
403
1.14
-0.00
26.4
8.8
—
—
—
0
0
5
50
1.00
-0.00
1.2
2.2
2.39
2.41
mmol/l
—
5
44

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_SYNDR_KNOWN_EXOGE_CAUSES_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_SYNDR_KNOWN_EXOGE_CAUSES_NOT_ELSEW_CLASSIFIED.

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_CONGEN_MALFO_SYNDR_KNOWN_EXOGE_CAUSES_NOT_ELSEW_CLASSIFIED – Congenital malformation syndromes due to known exogenous causes, not elsewhere classified

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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