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 |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
113 |
4. Check minimum number of eventsNone |
113 |
5. Include endpointsNone |
113 |
6. Filter based on genotype QC (FinnGen only) |
106 |
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 | 106 | 55 | 51 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 53.31 | 53.41 | 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
- 113
- Matched controls
- 1130
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E88.8
ICD-10 Finland
Other specified metabolic disorders
+∞
66.3
57
*
E88.9
ICD-10 Finland
Metabolic disorder, unspecified
1108.0
64.6
57
*
E88.0
ICD-10 Finland
Disorders of plasma-protein metabolism, not elsewhere classified
+∞
31.8
29
*
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
7.3
17.4
30
53
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
5.3
16.7
50
148
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.6
14.4
72
310
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
5.4
13.3
32
77
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
6.8
13.0
23
41
C03CA01
ATC
furosemide; systemic
4.3
11.0
36
110
ZXE00
NOMESCO Finland
One hour or less
3.7
10.8
63
287
L28
ICPC
Limited function/disability (L)
4.8
10.6
28
72
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.4
10.2
32
94
R11
ICD-10 Finland
Nausea and vomiting
6.1
10.0
19
36
UJF32
NOMESCO Finland
Coloscopy
3.9
9.8
39
136
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.0
9.7
24
58
TPH07
NOMESCO Finland
Cathetrisation of artery
5.6
9.5
20
42
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
5.6
9.5
20
42
SPAT1262
SPAT
Handing over of treatment supplies
4.7
9.3
25
65
J45.9
ICD-10 Finland
Asthma, unspecified
4.0
9.2
32
101
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.7
9.0
38
137
T90
ICPC
Diabetes non-insulin dependent
4.1
9.0
30
92
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
5.0
8.8
21
49
R06.0
ICD-10 Finland
Dyspnoea
3.6
8.8
37
133
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.6
8.7
38
140
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
22.1
8.7
12
6
127
Kela drug reimbursment
Transplant complication
30.1
8.7
11
*
A10BA02
ATC
metformin; oral
3.7
8.5
34
118
Z01.1
ICD-10 Finland
Examination of ears and hearing
3.8
8.5
32
107
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
9.3
8.5
17
21
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
3.6
8.4
35
125
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.0
8.3
20
47
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
4.0
8.3
28
86
J01MA12
ATC
levofloxacin; systemic
3.8
8.3
31
103
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
8.9
8.2
17
22
N03AX16
ATC
[U] pregabalin
3.5
8.2
35
127
JN3AD
NOMESCO Finland
Abdominal CT examination
4.8
8.1
20
48
Z31.5
ICD-10 Finland
Genetic counselling
5.2
8.0
18
40
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
3.5
7.8
33
118
A06AD11
ATC
lactulose; oral
4.4
7.8
22
59
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
3.6
7.8
31
107
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
5.0
7.7
18
41
JN3BD
NOMESCO Finland
Extensive abdominal CT
5.0
7.7
18
41
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
85.5
7.5
8
*
G47.3
ICD-10 Finland
Sleep apnoea
3.4
7.4
34
128
H02AB07
ATC
prednisone; oral
4.5
7.4
20
52
N05BA01
ATC
diazepam; systemic, rectal
4.0
7.3
24
72
L04AA06
ATC
mycophenolic acid; systemic
21.7
7.3
10
5
N02AX02
ATC
tramadol; systemic, rectal
2.9
7.1
54
272
R4110
NOMESCO Finland
Physiotherapy
3.0
7.0
41
178
103
Kela drug reimbursment
Diabetes, insulin-treated
3.3
7.0
32
120
C07AB07
ATC
bisoprolol; oral
2.9
7.0
55
281
AA1AD
NOMESCO Finland
CT of head and brain
3.2
7.0
35
139
J44.8
ICD-10 Finland
Other specified chronic obstructive pulmonary disease
6.7
6.9
17
29
ZXA10
NOMESCO Finland
Bilateral
3.3
6.9
31
115
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
4.4
6.9
19
50
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
6.1
6.8
18
34
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.8
6.8
51
254
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.5
6.6
26
88
215
Kela drug reimbursment
Diabetes, non-insulin-treated
3.3
6.6
30
112
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.9
6.6
41
184
L04AD01
ATC
ciclosporin; systemic
15.5
6.5
10
7
A46
ICD-10 Finland
Erysipelas
4.0
6.5
20
57
H02AB06
ATC
prednisolone; systemic
2.7
6.4
59
324
R5140
NOMESCO Finland
Monitoring the use of the aid
4.0
6.4
20
58
Z3231
NOMESCO Finland
Registered nurse
2.8
6.3
46
223
NXL00
NOMESCO Finland
Biopsy of muscle
+∞
6.3
6
*
R27.0
ICD-10 Finland
Ataxia, unspecified
+∞
6.3
6
*
EBA15
NOMESCO Finland
Extraction of multiple teeth
9.4
6.2
12
14
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
3.5
6.1
23
76
R50.9
ICD-10 Finland
Fever, unspecified
3.3
6.1
27
99
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
39
80
6.92
19.78
4.9
3.5
0.20
0.22
g/l
0.66
34
74
76
320
5.20
16.22
12.3
9.6
1.07
1.23
inr
1.64
32
89
75
333
4.72
14.42
9.8
5.2
34.81
36.24
g/l
1.11
69
312
90
485
5.20
12.76
13.2
5.5
6.72
6.47
mmol/l
0.52
85
452
54
211
3.99
11.86
3.9
1.8
141.33
135.12
u/l
0.11
54
199
32
86
4.80
11.57
14.8
8.1
0.83
1.35
mmol/l
0.28
24
69
63
278
3.86
11.49
7.0
3.1
—
—
—
0
0
30
80
4.74
10.90
31.7
15.3
24.17
25.37
mmol/l
1.45
30
80
17
12
16.42
10.89
3.3
1.2
5.01
4.80
kpa
0.43
17
12
77
408
3.78
10.26
22.2
7.9
1.23
1.22
mmol/l
0.55
67
356
54
229
3.60
10.20
7.4
3.1
0.35
0.55
e6/l
0.33
48
170
26
70
4.53
9.25
6.6
3.0
—
—
—
0
0
44
177
3.43
8.81
3.8
3.4
929.24
808.04
ng/l
0.15
38
141
63
336
2.98
7.53
5.4
2.2
77.14
76.30
nmol/l
0.08
56
292
54
266
2.97
7.44
2.4
1.6
84.87
100.94
pmol/l
1.85
30
134
12
11
12.03
6.98
2.8
1.7
—
—
—
0
0
29
103
3.44
6.90
26.7
9.0
0.54
1.82
mmol/l
1.11
23
76
17
41
4.70
6.82
1.4
1.1
—
—
—
0
0
31
116
3.30
6.78
2.8
1.8
—
—
—
0
0
13
15
9.63
6.76
2.5
1.4
—
—
—
0
0
13
16
9.02
6.54
2.2
1.6
16.53
17.69
%
—
6
10
83
543
2.99
6.35
15.0
11.0
4.01
3.78
e9/l
0.38
71
476
62
356
2.64
6.04
4.9
2.3
159.38
102.34
ug/l
0.91
55
321
33
137
2.99
6.01
5.9
2.9
2.60
2.64
e6/l
0.01
21
82
24
87
3.23
5.46
18.0
9.6
105.04
104.32
mmol/l
0.30
24
87
12
18
7.32
5.42
2.7
1.8
—
—
—
0
0
41
201
2.63
5.39
4.4
3.1
9.18
8.62
mg/mmol
0.04
24
119
14
27
5.76
5.29
2.6
2.0
—
—
—
0
0
37
175
2.66
5.21
5.0
2.6
—
—
—
0
0
95
705
3.18
5.14
4.1
3.5
14.57
14.76
pmol/l
0.34
89
641
50
276
2.46
5.08
5.7
3.1
23.28
49.44
ng/l
0.80
44
168
13
26
5.51
4.80
2.7
2.0
—
—
—
0
0
10
14
7.71
4.76
1.8
1.8
2.30
1.71
mmol/l
—
10
14
12
22
5.97
4.75
3.3
3.9
—
—
—
0
0
14
31
5.00
4.75
6.3
6.5
193.86
165.23
%
0.90
14
31
60
372
2.31
4.56
4.6
2.7
—
—
—
0
0
15
45
3.69
4.50
8.8
2.6
410.87
155.35
ng/l
0.53
15
40
15
38
4.39
4.50
5.8
5.9
83.27
90.45
%
0.39
15
38
108
926
4.75
4.25
37.5
12.9
138.98
139.72
mmol/l
2.14
108
901
108
928
4.70
4.25
38.3
12.9
3.99
3.96
mmol/l
0.52
108
902
8
10
8.50
4.13
5.5
5.7
51.50
53.30
%
—
8
10
63
411
2.20
4.09
6.7
3.0
0.00
0.00
estimate
-0.00
21
73
27
122
2.59
4.08
1.7
1.6
481.67
482.69
pmol/l
0.00
21
105
88
660
2.51
4.07
7.5
3.6
16.35
10.04
mm/h
2.52
88
602
12
27
4.84
4.07
1.5
1.6
—
—
—
0
0
12
27
4.84
4.07
1.9
1.7
—
—
—
0
0
9
14
6.88
4.07
2.1
1.4
—
—
—
0
0
7
7
10.55
4.07
2.6
1.3
—
—
—
0
0
30
143
2.49
4.06
6.0
2.8
0.44
0.80
e6/l
0.98
19
88
62
407
2.16
3.91
6.7
3.0
0.00
0.00
estimate
-0.00
24
80
7
8
9.23
3.83
1.0
1.0
—
—
—
0
0
98
788
2.84
3.66
24.5
10.0
85.08
86.64
ml/min/173m2
0.22
88
634
9
17
5.65
3.59
2.1
1.8
—
—
—
0
0
6
6
10.46
3.54
1.0
1.7
1.68
1.46
mmol/l
—
6
6
6
6
10.46
3.54
1.7
1.0
229.00
288.33
mg/l
—
6
6
39
221
2.17
3.51
1.9
1.6
2.25
1.25
mmol/l
0.92
34
183
7
10
7.37
3.41
2.4
1.1
—
—
—
0
0
60
404
2.03
3.39
9.6
4.1
0.00
0.00
estimate
-0.00
24
78
10
24
4.46
3.28
1.5
1.4
—
—
—
0
0
13
40
3.54
3.27
1.9
1.5
—
—
—
0
0
7
11
6.70
3.23
1.3
1.5
—
—
—
0
0
27
136
2.29
3.19
3.9
2.5
383.09
336.45
ng/l
0.06
19
93
9
20
4.79
3.19
1.1
1.2
—
—
—
0
0
23
108
2.42
3.18
2.7
1.4
1570.22
1370.63
nmol/l
0.39
18
87
10
25
4.28
3.17
2.2
2.3
—
—
—
0
0
20
88
2.55
3.16
3.0
1.6
—
—
—
0
0
6
8
7.84
3.09
3.0
1.8
1.18
0.88
g/l
—
6
8
97
797
2.53
3.08
5.0
3.5
1.56
1.24
mmol/l
2.95
92
735
8
17
4.98
2.98
1.6
1.8
—
—
—
0
0
20
91
2.46
2.95
2.9
1.6
—
—
—
0
0
108
965
3.69
2.86
20.5
9.2
34.82
26.68
u/l
2.56
108
931
95
783
2.34
2.83
8.5
4.3
41.63
38.49
mmol/mol
1.89
87
732
97
807
2.43
2.82
6.0
3.8
6.09
5.76
mmol/l
1.44
90
735
12
43
3.00
2.74
16.7
7.0
96.04
93.72
%
1.19
12
43
9
24
3.98
2.74
2.6
2.1
—
—
—
0
0
9
24
3.98
2.74
2.6
2.1
—
—
—
0
0
11
35
3.37
2.73
18.5
7.0
23.93
24.38
mmol/l
0.24
11
35
5
7
7.40
2.57
1.0
1.0
—
—
—
0
0
97
830
2.19
2.25
5.8
3.8
1.33
1.48
mmol/l
2.73
91
767
5
9
5.75
2.23
1.0
1.0
—
—
—
0
0
5
9
5.75
2.23
7.2
1.1
85.60
108.22
%
—
5
9
7
19
3.85
2.19
2.6
1.9
—
—
—
0
0
103
907
2.53
2.16
32.0
11.6
19.56
22.86
mg/l
0.69
93
667
13
56
2.49
2.14
2.4
1.7
—
—
—
0
0
37
241
1.80
2.11
1.4
1.6
0.72
1.84
u/ml
—
9
54
7
20
3.66
2.09
2.9
3.5
3.56
4.45
u/ml
—
7
20
7
20
3.66
2.09
3.0
1.9
—
—
—
0
0
7
20
3.66
2.09
3.0
1.9
—
—
—
0
0
7
20
3.66
2.09
3.0
2.4
—
—
—
0
0
5
11
4.70
1.96
1.6
1.5
—
—
—
0
0
6
16
3.90
1.96
1.8
1.8
—
—
—
0
0
13
64
2.17
1.61
2.2
4.6
8.84
76.35
ug/l
—
7
48
43
312
1.61
1.59
7.0
3.0
—
—
—
0
0
33
230
1.61
1.42
7.5
3.1
0.00
0.00
estimate
-0.00
22
74
8
37
2.25
1.24
1.8
3.4
20.19
23.33
u/ml
—
8
37
6
26
2.38
1.20
5.8
1.6
—
—
—
0
0
5
21
2.44
1.10
1.4
1.3
—
—
—
0
0
6
27
2.29
0.95
1.2
2.1
—
—
—
0
0
76
668
1.42
0.95
3.1
3.4
—
—
—
0
0
14
201
0.65
0.73
2.9
4.7
19.51
21.51
%
—
8
95
26
203
1.36
0.63
1.8
1.7
—
—
—
0
0
6
40
1.53
0.52
6.5
2.5
43.27
58.31
%
—
6
40
5
35
1.45
0.40
2.0
1.7
—
—
—
0
0
0
19
0.00
0.39
0.0
1.5
—
—
—
0
0
5
36
1.41
0.38
1.0
1.3
—
—
—
0
0
6
42
1.45
0.36
57.7
10.5
0.70
0.63
%
—
6
42
6
43
1.42
0.35
57.7
10.3
1.22
1.56
%
—
6
43
7
98
0.70
0.32
7.6
6.7
—
—
—
0
0
10
130
0.75
0.31
1.2
1.5
—
—
—
0
0
6
82
0.72
0.25
1.2
2.2
—
—
—
0
0
17
144
1.21
0.23
1.4
1.2
1.32
4.08
u/ml
—
5
52
5
40
1.26
0.23
1.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.9
—
13.82
—
0
11
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
7
86
0.80
0.15
1.1
1.7
—
—
—
0
0
13
139
0.93
0.03
1.8
2.5
—
—
—
0
0
13
131
0.99
0.00
1.7
2.3
—
—
—
0
0
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
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
0.32
—
0
8
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
5.63
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
7
69
1.02
-0.00
1.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.2
—
42.00
—
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: 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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