Other congenital malformations of digestive system

Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM2

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 Q45
  • Cause of death: ICD-10 Q45

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

85

4. Check minimum number of events

None

85

5. Include endpoints

None

85

6. Filter based on genotype QC (FinnGen only)

85

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
Aliae malformationes congenitae systematis digestorii

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 600 350 249
Only index persons 515 309 206
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 37.88 37.47 38.37
Only index persons 42.13 40.50 44.57

-FinnGen-

Key figures

All Female Male
Number of individuals 85 46 39
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 48.96 48.57 49.41

-FinRegistry-

Age distribution of first events

01020304050607080020406080100120140160AgeIndividuals

-FinnGen-

Age distribution of first events

01030405060708090024681012141618AgeIndividuals

-FinRegistry-

Year distribution of first events

197019751980198519901995200020052010201520202022020406080100120140YearIndividuals

-FinnGen-

Year distribution of first events

197019751980198519901995200020052010201520202023024681012141618202224YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

No data

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.

Matched cohort

Matched cases
73
Matched controls
731
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q45.38
ICD-10 Finland
Other congenital malformations of pancreas and pancreatic duct
+∞
25.5
23
*
Q45.8
ICD-10 Finland
Other specified congenital malformations of digestive system
+∞
16.2
15
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
8.5
15.8
46
122
XJD02
NOMESCO Finland
Peroral endoscopic ultrasonography
127.6
10.7
11
*
Q45.30
ICD-10 Finland
Ectopic pancreas
+∞
10.7
10
*
133
Kela drug reimbursment
Severe chronic pancreatic insufficiency
28.5
7.8
10
*
Q45.1
ICD-10 Finland
Annular pancreas
+∞
7.4
7
*
A09AA02
ATC
multienzymes (lipase, protease etc.)
22.8
7.4
10
5
JAH00
NOMESCO Finland
Laparotomy
19.0
7.0
10
6
K86.8
ICD-10 Finland
Other specified diseases of pancreas
76.2
6.5
7
*
Q45.0
ICD-10 Finland
Agenesis, aplasia and hypoplasia of pancreas
+∞
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
48
250
3.11
6.18
3.9
3.6
77.91
32.35
e6/l
0.43
36
184
57
328
3.23
6.15
7.7
8.6
1.21
1.21
mmol/l
0.04
52
284
16
43
4.35
5.67
1.2
1.2
—
—
—
0
0
25
94
3.35
5.51
1.8
2.7
—
—
—
0
0
14
38
4.21
4.87
1.2
1.1
—
—
—
0
0
22
86
3.10
4.48
2.0
2.3
102.05
144.20
ug/g
0.47
16
68
22
86
3.10
4.48
1.6
1.2
—
—
—
0
0
38
200
2.62
4.45
3.1
2.9
0.34
0.39
e6/l
0.11
32
151
37
199
2.52
4.08
3.4
2.8
—
—
—
0
0
40
225
2.47
3.98
3.2
2.9
12.28
31.18
e6/l
0.63
33
175
23
107
2.57
3.34
3.0
2.9
2.27
2.26
e6/l
0.00
15
58
64
467
2.49
3.31
3.9
3.5
—
—
—
0
0
45
287
2.20
3.16
3.0
3.5
—
—
—
0
0
64
474
2.41
3.09
6.0
4.1
—
—
—
0
0
33
187
2.25
3.09
7.4
4.3
—
—
—
0
0
31
173
2.24
2.99
7.4
7.6
—
—
—
0
0
30
168
2.21
2.86
3.3
3.9
—
—
—
0
0
15
63
2.67
2.63
9.9
9.1
—
—
—
0
0
26
143
2.18
2.56
2.4
2.4
605.33
549.92
mosm/kgh2o
0.27
21
121
7
16
4.66
2.53
1.6
1.1
—
—
—
0
0
34
209
2.04
2.50
5.2
3.2
—
—
—
0
0
39
253
2.00
2.47
1.9
1.8
80.40
97.98
pmol/l
1.42
21
123
7
17
4.38
2.41
1.1
1.2
—
—
—
0
0
39
255
1.97
2.40
11.1
6.7
1.12
1.21
inr
0.45
13
87
33
213
1.89
2.05
4.5
2.3
—
—
—
0
0
33
215
1.87
1.98
8.1
6.0
—
—
—
0
0
7
22
3.37
1.92
1.7
1.5
—
—
—
0
0
8
28
3.04
1.91
1.9
2.1
—
—
—
0
0
17
88
2.16
1.91
1.6
1.5
—
—
—
0
0
8
30
2.83
1.77
5.3
27.1
—
—
—
0
0
47
350
1.76
1.77
4.3
3.7
0.00
0.00
estimate
—
8
68
5
13
4.01
1.74
1.2
1.1
—
—
—
0
0
5
13
4.01
1.74
1.2
1.1
—
—
—
0
0
47
357
1.70
1.59
4.3
3.7
0.00
0.00
estimate
—
8
60
15
252
0.51
1.57
3.5
2.6
—
—
—
0
0
46
351
1.67
1.51
6.1
5.2
0.00
0.00
estimate
—
8
63
5
17
3.05
1.37
1.0
1.2
—
—
—
0
0
15
89
1.83
1.16
1.5
1.5
—
—
—
0
0
11
59
1.99
1.13
1.4
1.2
—
—
—
0
0
9
45
2.11
1.09
15.2
9.8
26.22
25.29
mmol/l
—
9
45
24
167
1.61
1.07
1.2
1.3
2.67
2.25
g/l
0.49
12
100
41
323
1.52
1.07
12.7
8.3
0.00
0.00
e9/l
0.00
36
263
23
164
1.55
0.92
7.7
6.1
—
—
—
0
0
17
114
1.61
0.87
1.3
1.3
55.48
25.39
iu/ml
—
5
35
26
194
1.49
0.85
4.5
3.8
0.00
0.00
estimate
—
8
64
33
260
1.44
0.82
3.0
3.4
30.26
32.61
ng/l
0.06
22
174
26
196
1.47
0.80
3.6
3.0
8.10
7.72
mmol/l
0.13
21
173
9
53
1.78
0.78
1.6
1.5
—
—
—
0
0
9
54
1.74
0.77
5.0
4.2
69.11
70.86
ng/l
—
9
49
16
110
1.56
0.75
1.4
1.3
3.48
7.54
u/ml
—
5
44
7
41
1.77
0.72
1.7
2.6
—
—
—
0
0
69
630
1.50
0.70
33.5
17.3
332.42
333.53
g/l
0.56
69
630
22
165
1.45
0.69
2.5
2.1
2.87
1.01
mg/l
0.66
17
131
10
62
1.69
0.68
3.4
4.4
4.22
4.83
kpa
—
10
62
5
29
1.77
0.65
5.2
6.0
—
—
—
0
0
8
51
1.62
0.62
3.6
3.6
1.24
1.22
mmol/l
—
8
46
11
72
1.60
0.62
4.7
4.3
5.83
5.73
kpa
0.13
11
72
11
73
1.58
0.59
4.6
4.6
—
—
—
0
0
0
23
0.00
0.59
0.0
1.3
—
—
—
0
0
12
82
1.54
0.58
1.6
1.2
—
—
—
0
0
12
83
1.52
0.55
1.1
1.4
—
—
—
0
0
6
39
1.58
0.54
1.3
2.2
—
—
—
0
0
12
85
1.48
0.50
1.3
1.4
—
—
—
0
0
7
48
1.50
0.48
1.6
2.7
4.46
4.58
pmol/l
—
7
43
11
78
1.47
0.45
1.5
1.8
—
—
—
0
0
14
105
1.40
0.44
2.6
2.2
12.87
12.94
umol/l
0.01
14
93
15
114
1.38
0.44
1.3
1.6
—
—
—
0
0
22
179
1.31
0.43
3.5
3.2
7.59
59.69
mg/l
2.34
15
125
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
5
34
1.50
0.41
7.4
5.6
—
—
—
0
0
24
199
1.29
0.41
4.3
3.1
—
—
—
0
0
23
191
1.28
0.38
4.6
3.9
1.79
8.10
mg/mmol
2.07
15
130
6
45
1.36
0.34
6.8
15.1
—
—
—
0
0
8
61
1.34
0.29
3.3
3.6
—
—
—
0
0
9
74
1.24
0.26
1.3
1.7
—
—
—
0
0
9
75
1.22
0.26
21.2
22.5
—
1.21
—
0
10
13
106
1.27
0.25
3.6
2.6
0.81
0.69
ug/l
—
7
67
5
37
1.37
0.24
1.2
1.0
—
—
—
0
0
5
40
1.26
0.23
3.0
3.3
0.90
1.41
%
—
5
40
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
2.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
688.00
—
0
7
8
71
1.14
0.16
1.4
1.3
—
—
—
0
0
29
267
1.13
0.15
1.9
2.0
—
—
—
0
0
77
752
1.24
0.14
21.8
11.3
—
—
—
0
0
17
151
1.16
0.14
1.6
1.9
—
—
—
0
0
20
183
1.12
0.11
3.7
3.4
—
—
—
0
0
7
64
1.10
0.08
1.7
2.0
—
—
—
0
0
67
664
1.04
0.00
29.8
13.7
39.87
40.20
%
0.12
53
506
0
7
0.00
0.00
0.0
6.4
—
0.53
—
0
7
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
7
74
0.94
0.00
1.6
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
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
0
6
0.00
0.00
0.0
1.0
—
9.63
—
0
6
0
5
0.00
0.00
0.0
1.0
—
46.40
—
0
5
0
6
0.00
0.00
0.0
1.2
—
136.92
—
0
6
0
5
0.00
0.00
0.0
1.2
—
—
—
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
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
89.11
—
0
8
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
6
59
1.02
0.00
1.3
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
5.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
5
54
0.92
0.00
11.2
3.3
—
—
—
0
0
21
207
1.02
0.00
1.4
1.4
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM2 and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM2.

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_DIGES_SYSTEM2 – Other congenital malformations of digestive system

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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