info icon

Disorders of purine and pyrimidine metabolism

E4_PURINEPYRI

Endpoint definition

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 E79
  • Cause of death: ICD-10 E79

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

-

4. Check minimum number of events

None

-

5. Include endpoints

195

6. Filter based on genotype QC (FinnGen only)

195

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E70-E90
Name in latin
Perturbationes metabolismi purini et pyrimidini

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded from FinRegistry analyses (omitted endpoint).

-FinnGen-

Key figures

All Female Male
Number of individuals 195 76 119
Unadjusted period prevalence (%) 0.04 0.03 0.05
Median age at first event (years) 64.95 61.89 66.90

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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
177
Matched controls
1770
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E79.0
ICD-10 Finland
Hyperuricaemia without signs of inflammatory arthritis and tophaceous disease
+∞
194.5
149
*
M04AA01
ATC
allopurinol; systemic
15.1
51.6
100
140
M10.9
ICD-10 Finland
Gout, unspecified
9.9
21.3
45
59
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
211.5
18.9
19
*
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
6.1
16.4
48
101
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
8.4
15.9
36
52
C03CA01
ATC
furosemide; systemic
4.0
15.9
85
332
H02AB06
ATC
prednisolone; systemic
3.8
15.8
113
564
E79.9
ICD-10 Finland
Disorder of purine and pyrimidine metabolism, unspecified
+∞
14.8
14
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
6.3
14.0
39
76
212
Kela drug reimbursment
Gout
15.5
13.7
22
16
205
Kela drug reimbursment
Chronic hypertension
3.5
13.2
80
335
P01BA02
ATC
hydroxychloroquine; oral
6.3
13.0
36
69
I10
ICD-10 Finland
Essential (primary) hypertension
3.4
13.0
128
764
A10BH05
ATC
linagliptin; oral
10.6
13.0
25
27
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
75.4
12.8
14
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
12.4
12.4
22
20
L28
ICPC
Limited function/disability (L)
4.3
12.3
50
148
TNX10
NOMESCO Finland
Arthrocentesis, unspecified region, unspecified region
6.9
12.2
31
53
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.2
12.1
102
531
M10.0
ICD-10 Finland
Idiopathic gout
10.4
11.9
23
25
E79.8
ICD-10 Finland
Other disorders of purine and pyrimidine metabolism
+∞
11.6
11
*
C08CA01
ATC
amlodipine; oral
3.1
11.6
88
423
N17.9
ICD-10 Finland
Acute renal failure, unspecified
11.2
11.4
21
21
NK4XE
NOMESCO Finland
Joint ultrasound examination not elsewhere classified
6.7
11.3
29
50
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.0
11.0
48
150
M13.9
ICD-10 Finland
Arthritis, unspecified
5.9
11.0
31
61
I50.9
ICD-10 Finland
Heart failure, unspecified
4.2
10.9
45
134
A46
ICD-10 Finland
Erysipelas
4.1
10.7
45
136
C10AA05
ATC
atorvastatin; oral
3.0
10.6
89
450
M06.0
ICD-10 Finland
Seronegative rheumatoid arthritis
12.4
10.3
18
16
J01FF01
ATC
clindamycin; systemic
3.1
9.9
70
312
L04AX03
ATC
methotrexate; systemic (immunosuppressants)
5.2
9.9
31
69
C07AB07
ATC
bisoprolol; oral
2.8
9.7
106
621
AN1
HP
Coronary angiography
4.7
9.4
33
83
H02AB07
ATC
prednisone; oral
4.0
9.3
39
117
C10AA01
ATC
simvastatin; oral
2.7
9.2
99
567
J01DB01
ATC
cefalexin; oral
3.4
9.1
153
1150
A10BA02
ATC
metformin; oral
2.9
8.9
68
317
A07EC01
ATC
sulfasalazine; oral, rectal
4.6
8.8
31
78
TND11
NOMESCO Finland
Injection of diagnostic or therapeutic substance in joint, wrist or hand
17.4
8.7
13
8
A02BC02
ATC
pantoprazole; systemic
2.7
8.7
127
856
288
Kela drug reimbursment
Febuxostat
29.1
8.6
11
*
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
3.4
8.6
46
167
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
3.1
8.4
53
217
M05.8
ICD-10 Finland
Other seropositive rheumatoid arthritis
5.8
8.4
23
44
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
4.9
8.3
27
63
103
Kela drug reimbursment
Diabetes, insulin-treated
2.8
8.2
66
311
215
Kela drug reimbursment
Diabetes, non-insulin-treated
2.9
8.1
59
262
C03DA01
ATC
spironolactone; oral
4.1
8.1
32
91
N02BE01
ATC
paracetamol; systemic, rectal
3.6
8.0
159
1259
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.7
8.0
67
324
E66.00
ICD-10 Finland
Metabolic syndrome
7.0
8.0
19
30
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.5
7.9
39
133
A49.9
ICD-10 Finland
Bacterial infection, unspecified
3.9
7.9
33
98
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.3
7.9
43
158
M05.9
ICD-10 Finland
Seropositive rheumatoid arthritis, unspecified
10.7
7.7
14
14
M04AA03
ATC
febuxostat; oral
26.3
7.7
10
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
4.1
7.5
29
80
E66.9
ICD-10 Finland
Obesity, unspecified
11.6
7.4
13
12
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
4.8
7.4
24
56
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
5.2
7.3
22
47
G47.3
ICD-10 Finland
Sleep apnoea
2.8
7.3
52
226
R50.9
ICD-10 Finland
Fever, unspecified
3.3
7.2
37
130
349
Kela drug reimbursment
Febuxostat
21.1
7.2
10
5
R06.0
ICD-10 Finland
Dyspnoea
2.7
7.0
56
263
WX722
NOMESCO Finland
PEEP
5.4
6.9
20
41
J01MA12
ATC
levofloxacin; systemic
2.9
6.9
45
185
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
8.3
6.8
14
18
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
2.6
6.7
54
252
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
4.5
6.7
23
57
S97
ICPC
Chronic ulcer skin
5.8
6.7
18
34
M06.9
ICD-10 Finland
Rheumatoid arthritis, unspecified
7.9
6.6
14
19
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.4
6.5
68
363
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
4.3
6.5
23
59
N19
ICD-10 Finland
Unspecified kidney failure
6.4
6.5
16
27
E87.5
ICD-10 Finland
Hyperkalaemia
72.3
6.5
7
*
C10AA07
ATC
rosuvastatin; oral
2.6
6.4
51
237
N02AX02
ATC
tramadol; systemic, rectal
2.3
6.4
87
527
SPAT1229
SPAT
Assessment of need for aid
4.3
6.4
23
60
NH3BA
NOMESCO Finland
Foot and toes extensive X-ray examination
6.7
6.3
15
24
E86
ICD-10 Finland
Volume depletion
27.8
6.3
8
*
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
4.0
6.2
24
67
206
Kela drug reimbursment
Chronic coronary artery disease and dyslipidaemia associated with chronic coronary artery disease
2.7
6.2
44
190
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
4.8
6.1
19
43
T90
ICPC
Diabetes non-insulin dependent
2.5
6.0
52
249
E000001
ATC
NA
2.7
6.0
44
195

Mortality – FinRegistry

This endpoint is excluded from FinRegistry analyses (omitted endpoint).

Relationships between endpoints

Index endpoint: E4_PURINEPYRI – Disorders of purine and pyrimidine metabolism

GWS hits: -

This endpoint is excluded from FinRegistry analyses (omitted endpoint).