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

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

88

4. Check minimum number of events

None

88

5. Include endpoints

None

88

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 47 38
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 48.54 49.33 47.57

-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
88
Matched controls
879
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
+∞
32.3
29
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
7.7
20.8
54
151
Q45.8
ICD-10 Finland
Other specified congenital malformations of digestive system
+∞
18.4
17
*
Q45.30
ICD-10 Finland
Ectopic pancreas
+∞
12.8
12
*
XJD02
NOMESCO Finland
Peroral endoscopic ultrasonography
31.0
8.7
11
*
K86.1
ICD-10 Finland
Other chronic pancreatitis
99.0
8.6
9
*
Q45.1
ICD-10 Finland
Annular pancreas
+∞
8.5
8
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.7
8.1
22
58
Q45.0
ICD-10 Finland
Agenesis, aplasia and hypoplasia of pancreas
+∞
7.4
7
*
JLB28
NOMESCO Finland
Endoscopic internal drainage of pancreatic duct
+∞
7.4
7
*
A09AA02
ATC
multienzymes (lipase, protease etc.); oral
13.6
7.3
12
10
A02BC01
ATC
omeprazole; systemic
3.4
6.9
34
136
133
Kela drug reimbursment
Severe chronic pancreatic insufficiency
18.5
6.9
10
6
601
Kela drug reimbursment
Severe malabsorption of nutrients, mainly fats
43.5
6.9
8
*
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
3.2
6.6
45
219
JN3BD
NOMESCO Finland
Extensive abdominal CT
4.3
6.4
19
53
K85
ICD-10 Finland
Acute pancreatitis
28.9
6.3
8
*
Q45.9
ICD-10 Finland
Congenital malformation of digestive system, unspecified
+∞
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
49
258
3.02
6.10
3.8
3.5
77.91
31.61
e6/l
0.44
36
190
58
338
3.09
5.97
7.6
8.4
1.21
1.22
mmol/l
0.13
53
296
24
89
3.33
5.37
16.2
7.5
104.83
103.62
mmol/l
0.69
24
89
16
45
4.12
5.32
1.2
1.2
—
—
—
0
0
24
90
3.29
5.27
1.6
1.2
—
—
—
0
0
25
97
3.20
5.19
1.8
2.7
—
—
—
0
0
23
89
3.14
4.77
2.0
2.2
97.99
143.34
ug/g
0.54
17
69
7
5
15.01
4.65
3.9
1.6
19.57
32.00
umol/l
—
7
5
15
39
4.41
4.46
1.2
1.1
—
—
—
0
0
38
206
2.48
4.08
3.1
2.8
0.34
0.44
e6/l
0.24
32
156
37
205
2.39
3.73
3.4
2.7
—
—
—
0
0
40
233
2.31
3.57
3.3
2.8
12.28
30.36
e6/l
0.62
33
182
66
482
2.47
3.38
3.8
3.5
—
—
—
0
0
23
109
2.50
3.20
3.0
2.9
2.27
2.22
e6/l
0.01
15
59
31
169
2.28
3.16
3.2
3.8
—
—
—
0
0
66
493
2.35
3.03
5.9
4.0
—
—
—
0
0
32
182
2.19
2.92
7.2
7.8
—
—
—
0
0
33
191
2.16
2.88
7.4
4.3
—
—
—
0
0
35
215
2.04
2.57
5.1
3.2
—
—
—
0
0
15
64
2.62
2.55
9.9
9.0
—
—
—
0
0
7
17
4.37
2.41
1.1
1.2
—
—
—
0
0
40
263
1.95
2.39
2.0
1.8
82.06
98.34
pmol/l
1.32
22
130
7
18
4.12
2.30
1.6
1.1
—
—
—
0
0
6
14
4.51
2.19
1.7
2.0
7.75
3.38
u/ml
—
6
14
26
152
2.01
2.14
2.4
2.4
605.33
538.86
mosm/kgh2o
0.33
21
130
46
331
1.81
1.99
9.6
7.0
—
—
—
0
0
49
360
1.81
1.97
4.1
3.7
0.00
0.00
estimate
—
8
73
5
11
4.74
1.96
1.4
1.0
—
—
—
0
0
8
28
3.03
1.91
1.9
2.1
—
—
—
0
0
42
298
1.78
1.87
14.8
11.5
1.12
1.22
inr
0.51
13
98
33
218
1.82
1.86
4.5
2.3
—
—
—
0
0
7
23
3.21
1.84
1.7
1.6
—
—
—
0
0
49
367
1.75
1.79
4.1
3.7
0.00
0.00
estimate
—
8
63
8
30
2.83
1.77
5.3
27.1
—
—
—
0
0
17
91
2.07
1.75
1.6
1.5
—
—
—
0
0
5
13
4.00
1.73
1.2
1.1
—
—
—
0
0
5
13
4.00
1.73
1.2
1.1
—
—
—
0
0
48
361
1.72
1.70
5.9
5.1
0.00
0.00
estimate
—
8
65
27
172
1.82
1.69
1.1
1.3
2.63
2.24
g/l
0.49
13
102
13
63
2.25
1.69
1.2
1.2
—
—
—
0
0
16
265
0.51
1.59
3.3
2.6
—
—
—
0
0
5
19
2.72
1.23
1.0
1.3
—
—
—
0
0
9
46
2.06
1.07
15.2
9.6
26.22
25.50
mmol/l
—
9
46
15
92
1.76
1.05
1.5
1.5
—
—
—
0
0
42
335
1.48
1.00
12.4
8.2
0.00
0.00
e9/l
-0.00
37
273
34
263
1.47
0.93
3.0
3.4
30.26
32.32
ng/l
0.05
22
176
0
25
0.00
0.80
0.0
1.3
—
—
—
0
0
9
53
1.77
0.78
1.6
1.5
—
—
—
0
0
72
655
1.54
0.78
32.2
17.2
332.21
333.42
g/l
0.66
72
655
13
84
1.64
0.77
1.1
1.4
—
—
—
0
0
9
55
1.71
0.76
5.0
4.1
69.11
71.52
ng/l
—
9
50
26
199
1.43
0.74
4.5
3.8
0.00
0.00
estimate
—
8
67
26
200
1.42
0.72
3.6
3.0
8.10
7.84
mmol/l
0.09
21
178
23
173
1.44
0.71
2.4
2.0
2.72
0.98
mg/l
0.65
18
139
17
121
1.50
0.68
1.3
1.3
55.48
24.88
iu/ml
—
5
36
5
29
1.76
0.64
5.2
6.0
—
—
—
0
0
10
63
1.66
0.64
3.4
4.3
4.22
4.84
kpa
—
10
63
12
80
1.58
0.63
1.5
1.8
—
—
—
0
0
8
52
1.59
0.61
3.6
3.5
1.24
1.22
mmol/l
—
8
46
0
20
0.00
0.61
0.0
1.8
—
—
—
0
0
11
73
1.58
0.59
4.7
4.3
5.83
5.76
kpa
0.09
11
73
16
117
1.45
0.57
1.4
1.3
3.48
6.93
u/ml
—
5
49
11
74
1.55
0.56
4.6
4.6
—
—
—
0
0
6
39
1.58
0.54
1.3
2.2
—
—
—
0
0
6
40
1.53
0.52
1.3
1.0
—
—
—
0
0
7
49
1.46
0.47
1.6
2.8
4.46
4.58
pmol/l
—
7
44
12
87
1.44
0.45
1.6
1.2
—
—
—
0
0
25
208
1.28
0.41
4.1
3.1
—
—
—
0
0
5
34
1.50
0.41
7.4
5.6
—
—
—
0
0
12
89
1.40
0.40
1.3
1.3
—
—
—
0
0
15
117
1.34
0.38
1.3
1.5
—
—
—
0
0
22
182
1.28
0.38
3.5
3.2
7.59
58.85
mg/l
2.34
15
127
14
109
1.34
0.36
2.6
2.1
12.87
12.93
umol/l
0.01
14
99
23
194
1.25
0.34
4.6
3.7
1.79
8.05
mg/mmol
2.06
15
131
6
46
1.32
0.34
6.8
14.8
—
—
—
0
0
8
63
1.29
0.29
3.3
3.5
—
—
—
0
0
9
76
1.20
0.25
1.3
1.7
—
—
—
0
0
13
106
1.26
0.24
3.6
2.6
0.81
0.69
ug/l
—
7
67
5
39
1.30
0.23
3.0
3.3
0.84
0.76
%
—
5
39
5
40
1.26
0.23
3.0
3.3
0.90
1.41
%
—
5
40
5
41
1.23
0.22
6.0
4.1
24.60
24.07
mmol/l
—
5
41
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
688.00
—
0
7
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
1.52
—
0
7
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
31
282
1.15
0.20
2.0
2.0
—
—
—
0
0
80
780
1.27
0.14
21.1
11.1
—
—
—
0
0
17
155
1.12
0.09
1.6
1.9
—
—
—
0
0
7
64
1.10
0.08
1.7
1.9
—
—
—
0
0
20
188
1.08
0.06
3.7
3.4
—
—
—
0
0
22
208
1.08
0.05
1.4
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
8.4
—
0.56
—
0
8
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
89.11
—
0
8
0
5
0.00
0.00
0.0
5.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
46.40
—
0
5
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
5
55
0.90
-0.00
11.0
3.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
62
0.96
-0.00
1.3
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
7
79
0.88
-0.00
1.6
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
136.92
—
0
6
8
79
1.01
-0.00
1.4
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
9.63
—
0
6

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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