metabolic disease: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.
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. |
133 |
4. Check minimum number of eventsNone |
133 |
5. Include endpointsNone |
133 |
6. Filter based on genotype QC (FinnGen only) |
107 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Metabolic disorder, other/unspecified
based on the number of shared cases.
Similar with more cases:
- Other metabolic disorders
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1049 | 516 | 527 |
| Only index persons | 686 | 348 | 338 |
| 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 | 19.12 | 21.80 | 16.02 |
| Only index persons | 38.81 | 39.57 | 38.04 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 107 | 56 | 51 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 53.22 | 53.23 | 53.21 |
-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
- 114
- Matched controls
- 1140
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E88.8
ICD-10 Finland
Other specified metabolic disorders
+∞
67.6
58
*
E88.9
ICD-10 Finland
Metabolic disorder, unspecified
1099.0
64.5
57
*
E88.0
ICD-10 Finland
Disorders of plasma-protein metabolism, not elsewhere classified
+∞
31.8
29
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
5.1
16.3
51
156
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
6.5
15.9
31
62
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.9
15.2
76
331
L28
ICPC
Limited function/disability (L)
5.3
13.5
34
85
C03CA01
ATC
furosemide; systemic
4.5
11.8
38
115
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
6.2
11.8
23
45
R11
ICD-10 Finland
Nausea and vomiting
6.5
11.7
21
38
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.6
11.4
34
97
ZXE00
NOMESCO Finland
One hour or less
3.8
11.2
64
288
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
4.1
11.1
42
143
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.9
10.7
44
158
J45.9
ICD-10 Finland
Asthma, unspecified
4.2
10.3
34
104
UJF32
NOMESCO Finland
Coloscopy
3.9
10.3
40
138
J01MA12
ATC
levofloxacin; systemic
4.1
9.7
33
103
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.3
9.6
30
88
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
5.2
9.6
22
50
SPAT1262
SPAT
Handing over of treatment supplies
4.7
9.5
25
64
T90
ICPC
Diabetes non-insulin dependent
4.0
9.4
33
105
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.6
9.3
25
65
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
3.7
9.3
38
135
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
3.8
9.2
35
118
N03AX16
ATC
[U] pregabalin
3.7
8.9
36
126
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.0
8.8
21
49
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
22.1
8.7
12
6
A06AD11
ATC
lactulose; oral
4.6
8.6
23
59
N05BA01
ATC
diazepam; systemic, rectal
4.2
8.2
25
71
127
Kela drug reimbursment
Transplant complication
24.1
8.2
11
5
TPH07
NOMESCO Finland
Cathetrisation of artery
4.7
7.9
20
49
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
8.1
7.8
17
24
AA1AD
NOMESCO Finland
CT of head and brain
3.3
7.8
40
162
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
7.8
7.6
17
25
A10BA02
ATC
metformin; oral
3.4
7.6
34
126
Z31.5
ICD-10 Finland
Genetic counselling
4.8
7.6
19
46
R4110
NOMESCO Finland
Physiotherapy
3.1
7.5
43
185
ZXA10
NOMESCO Finland
Bilateral
3.5
7.5
32
115
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
85.4
7.5
8
*
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
3.0
7.5
54
265
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.6
7.5
29
98
Z01.1
ICD-10 Finland
Examination of ears and hearing
3.4
7.4
32
116
L04AD01
ATC
ciclosporin; systemic
17.2
7.4
11
7
JN3BD
NOMESCO Finland
Extensive abdominal CT
4.8
7.3
18
43
J44.8
ICD-10 Finland
Other specified chronic obstructive pulmonary disease
6.7
7.3
18
31
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
3.3
7.2
33
124
C07AB07
ATC
bisoprolol; oral
2.9
7.1
56
286
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
4.7
7.1
18
44
H02AB07
ATC
prednisone; oral
4.3
7.0
20
54
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
6.3
7.0
18
33
R06.0
ICD-10 Finland
Dyspnoea
3.1
6.9
37
153
N02AX02
ATC
tramadol; systemic, rectal
2.8
6.8
55
284
R5140
NOMESCO Finland
Monitoring the use of the aid
3.9
6.7
22
66
H02AB06
ATC
prednisolone; systemic
2.8
6.6
60
328
L04AA06
ATC
mycophenolic acid; systemic
15.5
6.5
10
7
JN3AD
NOMESCO Finland
Abdominal CT examination
3.9
6.5
21
62
EBA15
NOMESCO Finland
Extraction of multiple teeth
10.2
6.5
12
13
R50.9
ICD-10 Finland
Fever, unspecified
3.3
6.4
29
108
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
4.0
6.3
20
58
R27.0
ICD-10 Finland
Ataxia, unspecified
+∞
6.3
6
*
NXL00
NOMESCO Finland
Biopsy of muscle
+∞
6.3
6
*
ZXE06
NOMESCO Finland
Procedure duration 50 to 59 minutes
6.2
6.3
16
29
Z3231
NOMESCO Finland
Registered nurse
2.8
6.3
46
224
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.8
6.2
42
196
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
5.7
6.2
17
34
103
Kela drug reimbursment
Diabetes, insulin-treated
3.1
6.1
32
129
TAB00
NOMESCO Finland
Lumbar puncture
4.5
6.1
16
40
A46
ICD-10 Finland
Erysipelas
3.7
6.1
21
65
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.3
6.1
26
93
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
78
370
4.51
13.32
11.2
5.8
34.86
36.27
g/l
1.03
72
348
61
244
4.23
13.21
4.0
1.9
166.48
401.10
u/l
0.43
61
232
34
88
5.08
12.96
31.8
19.0
24.30
25.46
mmol/l
1.62
34
88
32
85
4.84
11.74
15.0
8.6
0.85
1.26
mmol/l
0.21
24
69
67
306
3.89
11.60
7.4
3.3
—
—
—
0
0
83
444
4.20
11.23
23.4
9.1
1.22
1.22
mmol/l
0.30
72
389
17
12
16.39
10.89
3.3
1.2
5.01
4.80
kpa
0.43
17
12
30
81
4.67
10.72
5.9
3.0
—
—
—
0
0
57
252
3.52
10.03
7.9
3.3
0.35
0.48
e6/l
0.20
48
184
75
399
3.57
9.70
26.1
8.6
1.22
1.22
mmol/l
0.16
70
367
36
126
3.71
8.93
4.4
3.4
30.92
29.38
s
0.98
36
120
75
422
3.27
8.41
5.8
2.4
76.89
75.21
nmol/l
0.20
66
374
14
14
11.21
7.78
2.6
1.7
—
—
—
0
0
48
221
3.02
7.46
4.0
3.3
1351.32
893.82
ng/l
0.38
43
181
35
135
3.30
7.33
3.0
1.8
—
—
—
0
0
17
39
4.95
7.24
1.4
1.1
—
—
—
0
0
47
217
2.98
7.23
2.2
1.5
17.65
21.65
nmol/l
1.21
42
182
23
69
3.92
7.00
17.1
8.7
8.94
9.16
kpa
0.22
23
69
13
15
9.62
6.76
2.5
1.4
—
—
—
0
0
36
151
3.02
6.47
6.2
3.1
2.60
2.72
e6/l
0.02
21
79
14
20
7.81
6.45
2.5
1.8
—
—
—
0
0
13
17
8.47
6.32
2.4
1.8
17.28
16.96
%
0.10
13
17
29
109
3.23
6.26
2.7
1.6
—
—
—
0
0
30
117
3.12
6.08
27.0
10.1
0.81
1.52
mmol/l
0.55
24
90
16
32
5.64
5.83
2.4
1.9
—
—
—
0
0
60
343
2.58
5.82
2.6
1.7
84.40
100.82
pmol/l
2.14
33
173
48
249
2.60
5.66
4.9
3.4
9.25
7.55
mg/mmol
0.15
30
143
24
88
3.19
5.35
32.2
12.2
23.25
23.92
mmol/l
0.62
24
88
54
303
2.49
5.33
6.1
3.2
24.22
46.74
ng/l
0.78
47
193
8
6
14.20
5.16
1.5
1.2
245.13
288.33
mg/l
—
8
6
85
594
2.69
5.15
16.7
11.7
4.08
3.79
e9/l
0.46
75
512
28
115
2.90
5.13
19.6
11.5
105.32
104.36
mmol/l
0.51
28
115
12
22
5.96
4.75
2.1
1.3
—
—
—
0
0
14
31
5.00
4.75
2.8
1.9
—
—
—
0
0
40
205
2.47
4.71
4.9
2.8
—
—
—
0
0
67
437
2.29
4.47
5.6
2.8
142.20
103.25
ug/l
0.69
60
403
10
16
6.74
4.40
1.8
1.8
2.30
1.63
mmol/l
—
10
16
14
41
3.75
4.34
2.0
1.5
—
—
—
0
0
74
508
2.30
4.30
6.9
3.2
0.00
0.00
estimate
-0.00
26
93
99
776
3.10
4.30
4.7
4.0
14.47
14.78
pmol/l
0.71
93
713
13
30
4.75
4.28
1.1
3.7
3.57
3.39
mmol/l
0.27
13
30
33
161
2.48
4.27
6.2
3.0
0.44
0.79
e6/l
0.97
19
90
12
27
4.84
4.07
3.5
3.4
—
—
—
0
0
7
7
10.55
4.07
2.7
1.3
—
—
—
0
0
13
33
4.31
3.94
1.9
1.7
—
—
—
0
0
13
33
4.31
3.94
1.5
1.5
—
—
—
0
0
62
406
2.16
3.93
5.4
3.0
—
—
estimate
—
0
0
8
11
7.72
3.93
2.3
1.1
—
—
—
0
0
29
139
2.46
3.87
2.0
1.6
472.78
477.49
pmol/l
0.02
23
121
72
502
2.18
3.86
7.0
3.2
0.00
0.00
estimate
-0.00
28
99
12
29
4.50
3.83
2.1
1.5
—
—
—
0
0
7
8
9.22
3.83
1.0
1.0
—
—
—
0
0
71
495
2.15
3.77
7.0
3.2
0.00
0.00
estimate
-0.00
28
100
9
19
5.05
3.31
1.1
1.3
—
—
—
0
0
6
7
8.96
3.30
1.0
1.6
1.68
1.50
mmol/l
—
6
7
23
107
2.44
3.24
2.9
1.6
—
—
—
0
0
91
723
2.28
3.17
8.5
4.0
16.37
9.71
mm/h
2.83
91
668
14
51
2.99
3.11
22.1
9.1
23.91
24.59
mmol/l
0.50
14
51
102
855
2.83
3.09
29.6
12.1
85.36
86.86
ml/min/173m2
0.23
95
778
23
110
2.37
3.05
2.9
1.4
1570.22
1359.52
nmol/l
0.42
18
88
10
27
3.96
2.96
2.2
2.4
—
—
—
0
0
10
28
3.81
2.86
1.9
1.4
—
—
—
0
0
5
6
8.64
2.77
1.0
4.7
85.40
296.33
nmol/l
—
5
6
8
20
4.22
2.62
1.6
1.6
—
—
—
0
0
28
155
2.07
2.60
4.4
2.7
417.33
535.55
ng/l
0.14
20
107
99
838
2.38
2.58
5.5
3.9
1.56
1.23
mmol/l
3.06
94
778
6
11
5.69
2.57
2.3
3.2
4.27
9.14
pmol/l
—
6
11
5
7
7.40
2.57
1.0
1.0
—
—
—
0
0
7
16
4.59
2.51
2.1
1.9
—
—
—
0
0
43
280
1.86
2.50
6.3
2.6
0.00
0.00
estimate
-0.00
23
79
100
855
2.38
2.46
9.9
5.0
41.05
38.08
mmol/mol
1.99
93
802
8
22
3.83
2.41
2.7
3.4
3.28
4.16
u/ml
—
8
22
44
292
1.83
2.39
6.6
3.1
0.00
0.00
estimate
-0.00
26
95
5
9
5.75
2.23
2.6
4.2
-1.76
2.32
mmol/l
—
5
9
5
9
5.75
2.23
1.0
1.0
—
—
—
0
0
100
865
2.27
2.22
6.8
4.3
6.08
5.76
mmol/l
1.52
93
788
6
15
4.16
2.06
1.7
1.5
—
—
—
0
0
13
57
2.45
2.06
23.4
9.2
95.73
94.21
%
0.86
13
57
10
38
2.79
2.06
1.7
3.5
17.85
22.94
u/ml
—
10
38
14
64
2.35
2.04
2.8
1.6
—
—
—
0
0
5
11
4.70
1.96
7.8
1.4
85.40
109.00
%
—
5
11
6
16
3.90
1.96
2.0
1.8
—
—
—
0
0
7
22
3.32
1.91
2.9
1.9
—
—
—
0
0
7
23
3.17
1.83
2.4
1.7
—
—
—
0
0
7
23
3.17
1.83
3.3
2.3
—
—
—
0
0
9
36
2.63
1.78
2.7
1.3
1.07
0.89
g/l
—
9
36
109
1008
2.85
1.76
24.0
11.0
34.16
26.74
u/l
2.41
109
980
5
13
3.97
1.73
1.6
1.0
—
—
—
0
0
100
890
2.01
1.66
6.7
4.4
1.33
1.47
mmol/l
2.57
94
828
100
891
2.00
1.63
7.0
4.5
4.50
4.65
mmol/l
0.80
95
837
105
962
2.16
1.57
37.1
13.3
19.87
23.03
mg/l
0.70
100
742
39
277
1.62
1.57
1.6
1.6
0.83
2.20
u/ml
1.09
11
65
14
72
2.08
1.57
1.6
1.4
—
—
—
0
0
14
72
2.08
1.57
2.7
4.8
7.84
66.30
ug/l
—
9
56
51
391
1.55
1.47
2.6
1.9
2.16
1.30
mmol/l
1.10
45
325
6
24
2.58
1.32
1.3
1.3
—
—
—
0
0
80
688
1.55
1.29
3.3
3.4
—
—
—
0
0
48
382
1.44
1.09
6.8
3.0
0.00
0.01
estimate
0.49
23
83
14
221
0.58
1.08
3.4
5.1
19.70
22.27
%
—
8
110
6
27
2.29
0.95
1.3
1.3
—
—
—
0
0
8
45
1.84
0.86
1.0
1.1
—
7.91
—
0
7
6
31
1.99
0.85
6.0
1.6
1.30
0.48
g/l
—
6
26
7
44
1.63
0.66
1.0
1.2
—
—
—
0
0
22
166
1.40
0.65
1.4
1.3
1.32
4.50
u/ml
—
8
61
29
231
1.34
0.62
2.1
1.7
—
—
—
0
0
0
20
0.00
0.61
0.0
1.6
—
48.33
—
0
20
5
86
0.56
0.59
2.0
2.2
—
—
—
0
0
6
39
1.57
0.54
1.8
1.6
—
—
—
0
0
10
69
1.49
0.46
3.1
2.3
42.40
63.73
ml/min/173m2
—
5
22
22
183
1.25
0.35
1.3
1.3
74.10
24.15
iu/ml
—
5
55
7
96
0.71
0.32
1.7
2.5
—
—
—
0
0
7
99
0.69
0.32
7.6
6.6
—
—
—
0
0
7
51
1.40
0.32
49.6
12.8
1.16
1.54
%
—
7
51
7
52
1.37
0.32
49.6
12.6
0.64
0.62
%
—
7
52
0
10
0.00
0.21
0.0
2.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
13.67
—
0
12
12
138
0.85
0.14
1.2
1.6
—
—
—
0
0
14
157
0.88
0.12
2.1
2.6
—
—
—
0
0
14
149
0.93
0.03
1.9
2.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
5.70
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
7
76
0.92
-0.00
1.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
0.32
—
0
9
0
6
0.00
-0.00
0.0
3.5
—
42.17
—
0
6
Mortality – FinRegistry
↥Association
Association between endpoint E4_METABONAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_METABONAS | 3.691 [2.35, 5.8] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.251 |
During the follow-up period (1.1.1998 — 31.12.2019), 69 out of 330 females with E4_METABONAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_METABONAS | 4.79 [3.22, 7.12] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 316 males with E4_METABONAS died.
Mortality risk
Mortality risk for people of age
years, who have E4_METABONAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.407% | 0.844% |
| 5 | 2.113% | 5.355% |
| 10 | 5.119% | 12.316% |
| 15 | 10.336% | 21.695% |
| 20 | 17.406% | 33.78% |
Relationships between endpoints
↥Index endpoint: E4_METABONAS – Metabolic disorder, other/unspecified
GWS hits: 2
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
Loading data