lactose intolerance: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.
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. |
109 |
4. Check minimum number of eventsNone |
109 |
5. Include endpointsNone |
109 |
6. Filter based on genotype QC (FinnGen only) |
87 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E73
- Name in latin
- Deficientia lactasae congenita
Similar endpoints
↥List of similar endpoints to
Congenital lactase deficiency
based on the number of shared cases.
Similar with more cases:
- Lactose intolerance
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1143 | 650 | 487 |
| Only index persons | 1029 | 596 | 433 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.01 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 15.54 | 18.37 | 11.55 |
| Only index persons | 15.74 | 18.53 | 11.90 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 87 | 65 | 22 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | 43.38 | 40.98 | 50.45 |
-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
- 99
- Matched controls
- 990
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E73.0
ICD-10 Finland
Congenital lactase deficiency
+∞
142.7
99
*
UJF32
NOMESCO Finland
Coloscopy
5.1
13.2
37
103
A06AC01
ATC
ispaghula (psylla seeds); oral
4.7
12.0
39
121
E73.9
ICD-10 Finland
Lactose intolerance, unspecified
+∞
11.7
11
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
4.5
11.4
39
125
K58.0
ICD-10 Finland
Irritable bowel syndrome with diarrhoea
9.2
10.1
21
28
E73.8
ICD-10 Finland
Other lactose intolerance
+∞
8.4
8
*
XF400
NOMESCO Finland
ECG with 12 standard connections
4.0
7.3
24
73
K30
ICD-10 Finland
Functional dyspepsia
4.1
7.2
23
68
G47.3
ICD-10 Finland
Sleep apnoea
3.4
6.7
30
112
JN3AD
NOMESCO Finland
Abdominal CT examination
4.4
6.4
18
48
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.4
6.1
17
45
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
70
242
7.46
21.06
1.5
1.3
1.07
3.68
u/ml
0.85
19
63
27
60
5.81
12.31
1.1
1.0
—
—
—
0
0
59
295
3.48
8.50
5.3
4.2
37.08
36.56
g/l
0.25
52
282
64
349
3.36
7.77
10.7
7.3
1.23
1.22
mmol/l
0.30
59
303
58
320
2.96
6.52
2.6
1.8
106.17
99.34
pmol/l
0.38
38
167
16
40
4.58
6.17
1.6
1.3
—
—
—
0
0
41
210
2.63
5.02
1.8
1.6
18.05
21.95
nmol/l
0.95
34
182
41
212
2.59
4.90
2.1
1.9
2.93
2.73
mg/l
0.23
33
179
45
246
2.52
4.76
7.0
3.2
17.21
56.32
ng/l
1.13
26
138
94
782
5.00
4.55
20.6
10.8
90.07
90.63
ml/min/173m2
0.07
87
704
43
236
2.45
4.46
5.8
2.9
—
—
—
0
0
37
192
2.48
4.30
6.0
3.4
7.42
16.67
mg/mmol
0.56
24
104
13
31
4.67
4.19
1.1
1.7
—
—
—
0
0
24
102
2.79
4.14
1.7
1.5
1292.65
1070.20
nmol/l
0.56
17
78
71
500
2.48
4.06
9.4
9.7
4.47
3.91
e9/l
0.38
62
438
35
193
2.26
3.44
4.0
3.1
1.02
1.02
kg/l
0.02
22
123
42
258
2.09
3.10
1.5
1.7
—
—
—
0
0
6
8
7.89
3.10
1.3
1.0
—
—
—
0
0
6
8
7.89
3.10
1.3
1.0
—
—
—
0
0
89
742
2.97
2.88
7.4
4.6
38.91
37.17
mmol/mol
0.86
89
697
23
117
2.26
2.68
4.2
2.5
1.72
0.83
e6/l
0.39
12
62
11
37
3.21
2.58
1.4
1.7
—
—
—
0
0
11
37
3.21
2.58
5.4
4.4
23.87
24.48
mmol/l
0.28
11
37
5
7
7.44
2.58
1.0
1.1
—
—
—
0
0
7
16
4.62
2.52
4.6
3.3
—
—
—
0
0
32
191
2.00
2.47
2.2
1.6
4.66
1.23
mg/l
0.45
23
146
12
46
2.83
2.46
1.5
2.2
—
—
—
0
0
9
27
3.56
2.46
4.0
2.0
163.33
176.52
%
—
9
27
15
65
2.54
2.46
4.3
3.7
5.96
5.60
kpa
0.94
15
65
21
107
2.22
2.43
4.3
2.6
1.62
3.38
e6/l
—
8
51
14
59
2.60
2.42
2.6
3.1
5.11
5.03
kpa
0.03
14
59
8
23
3.69
2.32
1.4
1.1
—
—
—
0
0
5
9
5.78
2.24
1.2
1.1
—
—
—
0
0
7
19
3.88
2.19
3.6
2.5
26.44
24.97
mmol/l
—
7
19
11
44
2.69
2.09
15.1
7.6
9.80
7.87
mmol/l
0.36
11
44
9
35
2.72
1.85
1.9
1.5
—
—
—
0
0
8
30
2.81
1.76
1.1
1.4
—
12.65
—
0
8
12
55
2.34
1.75
4.7
3.8
2.66
6.50
ug/l
0.75
12
42
5
13
3.99
1.73
2.4
2.1
6.88
4.67
pmol/l
—
5
13
6
19
3.29
1.69
1.0
1.2
—
188.00
—
0
5
7
25
2.93
1.68
3.4
1.8
2.80
3.42
g/l
—
7
25
21
123
1.90
1.67
1.7
1.8
—
—
—
0
0
30
200
1.72
1.58
4.7
2.6
0.08
0.42
e6/l
2.37
24
148
15
80
2.03
1.55
2.3
2.6
346.60
379.08
nmol/l
0.28
15
72
84
738
1.91
1.50
24.0
15.8
13.67
13.37
%
1.33
84
730
21
129
1.80
1.45
4.3
3.0
10.00
521.37
ng/l
1.03
13
75
8
34
2.47
1.32
7.0
6.4
24.56
24.95
mmol/l
—
8
34
6
24
2.59
1.32
1.2
1.1
—
—
—
0
0
6
24
2.59
1.32
1.3
1.5
—
—
—
0
0
15
85
1.90
1.32
2.9
7.5
103.20
104.64
mmol/l
0.61
15
85
6
25
2.49
1.26
1.2
1.2
—
—
—
0
0
6
25
2.49
1.26
1.5
1.4
—
—
—
0
0
6
25
2.49
1.26
1.2
1.2
—
—
—
0
0
28
194
1.62
1.26
1.5
1.3
17.00
21.08
iu/ml
—
9
50
29
204
1.60
1.22
1.5
1.5
—
—
—
0
0
49
393
1.49
1.13
3.6
2.9
—
—
estimate
—
0
0
7
34
2.14
1.05
1.4
1.8
0.19
0.23
g/l
—
7
34
15
93
1.72
1.01
1.7
1.5
—
—
—
0
0
7
36
2.01
0.99
1.3
1.8
—
—
—
0
0
7
37
1.96
0.96
3.3
3.5
62.90
50.59
%
—
7
37
6
29
2.14
0.91
1.5
2.4
—
—
—
0
0
10
57
1.84
0.87
1.4
1.4
—
—
—
0
0
14
89
1.67
0.87
1.7
1.7
—
—
—
0
0
6
33
1.87
0.80
1.0
1.3
—
—
—
0
0
7
38
1.90
0.75
1.9
2.6
1.91
1.44
%
—
7
38
5
27
1.90
0.69
1.4
2.3
—
—
—
0
0
24
183
1.41
0.68
1.7
1.3
2.40
7.77
u/ml
—
8
78
27
212
1.38
0.65
3.7
2.3
—
—
—
0
0
8
50
1.65
0.63
5.5
9.3
24.35
25.09
mmol/l
—
8
50
0
22
0.00
0.60
0.0
1.0
—
—
—
0
0
38
322
1.29
0.55
1.8
1.7
1.34
1.31
mmol/l
0.05
33
281
14
104
1.40
0.46
7.4
5.2
1.82
1.64
ug/l
0.13
14
88
8
61
1.34
0.40
5.8
3.0
—
—
—
0
0
11
80
1.42
0.40
4.2
5.0
—
—
—
0
0
16
125
1.33
0.40
1.6
1.9
3.54
3.29
ratio
0.30
11
100
9
121
0.72
0.38
1.6
1.5
1315.24
982.96
mu/l
—
9
103
5
76
0.64
0.37
1.6
1.6
39.48
60.48
ug/l
—
5
63
11
82
1.38
0.36
4.8
5.4
18.92
23.59
%
—
6
36
8
62
1.32
0.29
1.3
1.4
—
—
—
0
0
24
207
1.21
0.28
2.4
2.2
—
—
—
0
0
5
41
1.23
0.22
1.0
1.0
1.48
1.58
g/l
—
5
41
5
41
1.23
0.22
1.0
1.0
0.82
0.90
g/l
—
5
41
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
13.64
—
0
11
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
136.80
—
0
10
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
25
228
1.13
0.15
2.8
2.5
—
—
—
0
0
14
122
1.17
0.14
1.6
2.0
—
—
—
0
0
16
145
1.12
0.10
2.1
2.1
—
—
—
0
0
5
45
1.12
0.10
1.6
1.6
—
—
—
0
0
69
676
1.07
0.07
3.8
3.8
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
1347.71
—
0
7
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
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
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
5
49
1.02
-0.00
1.8
1.6
—
—
—
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
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_LACTOCON and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_LACTOCON | 1.627 [1.12, 2.36] | 0.01 |
| Birth year | 0.995 [0.99, 1.0] | 0.232 |
During the follow-up period (1.1.1998 — 31.12.2019), 65 out of 593 females with E4_LACTOCON died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have E4_LACTOCON.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.185% | No data |
| 5 | 0.927% | No data |
| 10 | 2.137% | No data |
| 15 | 4.317% | No data |
| 20 | 7.943% | No data |
Relationships between endpoints
↥Index endpoint: E4_LACTOCON – Congenital lactase deficiency
GWS hits: 1
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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