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Congenital absence, atresia and stenosis of small intestine

Q17_CONGEN_ABSENCE_ATRES_STENO_SMALL_INTESTINE

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 Q41
  • Cause of death: ICD-10 Q41

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

44

4. Check minimum number of events

None

44

5. Include endpoints

None

44

6. Filter based on genotype QC (FinnGen only)

44

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q3[8-9]|Q4[0-5]
Name in latin
Agenesis, atresia sive stenosis congenita intestini tenuis

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 712 399 312
Only index persons 450 249 201
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 0.06 0.01 0.01
Only index persons 0.37 0.53 0.16

-FinnGen-

Key figures

All Female Male
Number of individuals 44 33 11
Unadjusted period prevalence (%) 0.01 0.01 0.00
Median age at first event (years) 5.76 6.41 3.81

-FinRegistry-

Age distribution of first events

010203040506070050100150200250300350400450500550AgeIndividuals

-FinnGen-

Age distribution of first events

01040024681012141618202224262830AgeIndividuals

-FinRegistry-

Year distribution of first events

197019751980198519901995200020052010201520202022020406080100120140YearIndividuals

-FinnGen-

Year distribution of first events

19701975198019851990199520002005201020230246810121416YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

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
20
28
12.23
14.89
2.1
1.2
—
—
—
0
0
12
14
11.38
9.80
10.6
2.5
29.59
2.89
umol/l
—
12
9
27
96
5.67
7.55
5.6
2.6
—
—
—
0
0
9
5
21.96
6.56
11.7
2.2
1.31
1.50
umol/l
—
9
5
14
34
5.56
5.85
1.9
1.6
—
—
—
0
0
25
102
4.35
5.47
22.2
5.7
35.21
36.52
g/l
0.46
25
96
17
54
4.49
5.13
6.4
3.5
—
—
—
0
0
11
24
5.76
5.09
17.2
16.7
1.03
1.09
mg/l
0.18
11
24
9
10
10.91
5.05
2.0
1.7
—
—
—
0
0
7
5
16.21
4.74
7.3
3.0
48.14
25.20
mmol/l
—
7
5
15
47
4.31
4.54
22.8
4.6
6.33
6.62
umol/l
0.04
15
39
24
106
3.77
4.49
7.0
2.8
—
—
—
0
0
11
28
4.89
4.26
16.9
3.6
47.00
44.73
ng/l
0.09
11
23
6
5
13.54
3.87
6.0
1.2
12.47
29.04
umol/l
—
6
5
10
26
4.67
3.74
2.0
1.4
—
—
—
0
0
14
48
3.80
3.69
10.1
4.9
30.21
29.87
s
0.10
14
48
6
6
11.27
3.60
1.3
1.7
—
—
—
0
0
14
53
3.40
3.15
16.9
7.8
23.29
23.47
mmol/l
0.10
14
47
14
54
3.33
3.05
31.1
9.5
—
—
—
0
0
18
82
3.01
2.98
5.4
2.4
51.61
52.62
u/l
0.05
18
77
8
19
4.88
2.83
14.1
7.1
22.13
22.16
s
—
8
19
9
25
4.24
2.75
1.6
1.2
—
—
—
0
0
7
16
4.97
2.59
2.6
1.7
—
—
—
0
0
7
17
4.67
2.47
1.9
1.2
—
—
—
0
0
15
71
2.68
2.23
53.4
9.7
24.83
24.42
mmol/l
0.28
15
71
24
143
2.48
2.23
16.3
7.4
—
—
—
0
0
6
14
4.77
2.23
5.3
17.3
1.12
0.95
%
—
6
14
30
201
2.54
2.13
19.1
5.4
149.47
107.22
u/l
1.20
30
194
5
10
5.46
2.12
1.4
1.3
—
—
—
0
0
17
88
2.51
2.11
11.6
1.5
2.68
2.40
mg/l
0.32
17
77
14
66
2.64
2.08
35.9
7.1
24.16
24.15
mmol/l
0.00
14
66
26
165
2.40
2.06
45.7
7.5
1.23
1.23
mmol/l
0.04
26
149
14
68
2.55
1.96
37.9
6.8
—
—
—
0
0
6
18
3.68
1.81
15.8
14.4
120.67
131.06
g/l
—
6
18
29
204
2.23
1.67
15.4
6.7
3.02
3.06
%
0.04
29
193
29
206
2.19
1.60
15.7
7.0
9.24
7.97
%
1.55
29
197
28
197
2.15
1.58
15.8
7.1
0.51
0.61
%
0.48
28
189
5
15
3.61
1.56
14.0
2.7
—
—
—
0
0
17
99
2.16
1.55
2.5
2.2
—
—
—
0
0
16
96
2.04
1.33
3.3
1.8
—
—
—
0
0
14
81
2.06
1.27
7.0
3.6
4.86
7.79
mmol/l
2.11
14
72
29
218
1.96
1.24
15.5
6.5
34.72
34.60
%
0.02
29
209
12
66
2.12
1.23
10.8
3.3
0.81
0.71
mg/l
0.10
12
49
6
26
2.50
1.23
2.8
2.5
430.83
141.65
ng/l
—
6
26
13
74
2.07
1.22
8.9
1.6
81.08
55.41
ug/g
0.33
13
53
39
334
2.45
1.22
46.2
10.4
138.72
139.41
mmol/l
1.43
39
321
7
33
2.32
1.11
2.4
1.5
—
—
—
0
0
28
213
1.86
1.10
15.3
6.4
49.60
50.97
%
0.22
28
203
9
48
2.09
1.09
3.0
1.3
—
—
—
0
0
26
196
1.79
1.03
23.3
7.8
0.00
0.00
e9/l
0.00
21
150
16
106
1.80
0.96
10.1
3.7
—
—
—
0
0
26
199
1.74
0.95
17.4
6.7
5.89
5.94
mmol/l
0.06
26
178
21
152
1.72
0.93
2.0
2.5
—
—
—
0
0
21
153
1.71
0.90
2.1
1.7
—
—
—
0
0
44
415
+∞
0.82
50.8
14.2
280.50
266.75
e9/l
0.39
44
403
23
177
1.62
0.77
8.8
2.6
63.78
49.86
ug/l
0.47
23
164
6
100
0.54
0.73
1.8
1.8
—
—
—
0
0
7
44
1.70
0.68
1.0
1.8
—
501.82
—
0
11
14
99
1.60
0.64
5.9
3.2
—
—
—
0
0
44
417
+∞
0.61
50.8
14.1
7.08
7.41
e9/l
0.33
44
405
44
416
+∞
0.60
50.9
14.1
4.42
4.51
e12/l
0.55
44
404
7
109
0.57
0.58
1.6
1.7
—
—
—
0
0
20
157
1.50
0.57
61.4
9.3
1.23
1.24
mmol/l
0.43
20
148
9
64
1.51
0.56
1.3
1.5
—
—
—
0
0
39
358
1.76
0.52
36.3
9.9
25.23
22.79
mg/l
0.17
32
254
0
15
0.00
0.42
0.0
1.0
—
—
—
0
0
0
15
0.00
0.42
0.0
1.7
—
—
—
0
0
0
15
0.00
0.42
0.0
1.3
—
1.30
—
0
15
0
15
0.00
0.42
0.0
1.3
—
0.23
—
0
15
11
81
1.47
0.41
14.4
5.5
—
—
—
0
0
6
46
1.35
0.34
2.5
2.2
—
—
—
0
0
18
151
1.32
0.31
5.1
2.9
—
—
—
0
0
11
85
1.39
0.31
5.7
3.0
—
1.02
—
0
17
38
357
1.45
0.27
44.5
12.2
14.02
13.25
%
1.86
38
352
5
42
1.21
0.22
2.0
2.4
—
—
—
0
0
0
10
0.00
0.21
0.0
3.2
—
23.66
—
0
10
10
120
0.78
0.20
1.9
1.7
—
—
—
0
0
13
150
0.81
0.19
2.0
2.0
—
—
—
0
0
27
249
1.21
0.18
9.3
3.5
—
—
—
0
0
5
46
1.10
0.10
6.8
2.8
18.20
434.80
mg/l
—
5
28
5
47
1.07
0.10
7.0
3.2
3.46
52.92
mg/mmol
—
5
27
7
79
0.86
0.08
2.1
1.9
—
—
—
0
0
7
79
0.86
0.08
3.3
2.3
228.86
298.51
u/l
—
7
79
25
237
1.12
0.08
8.7
3.2
6.76
8.54
mm/h
0.78
25
221
13
132
0.98
0.00
2.1
1.5
2.69
1.55
g/l
—
7
67
8
86
0.91
0.00
4.1
2.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
71.90
—
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
9
0.00
0.00
0.0
1.1
—
—
—
0
0
6
60
1.00
0.00
1.8
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
11.0
—
770.00
—
0
5
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
9
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
12.8
—
1567.00
—
0
5
0
7
0.00
0.00
0.0
5.7
—
399.71
—
0
7
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_ABSENCE_ATRES_STENO_SMALL_INTESTINE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_ABSENCE_ATRES_STENO_SMALL_INTESTINE.

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_ABSENCE_ATRES_STENO_SMALL_INTESTINE – Congenital absence, atresia and stenosis of small intestine

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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