No definition available.
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. |
184 |
4. Check minimum number of eventsNone |
184 |
5. Include endpointsNone |
184 |
6. Filter based on genotype QC (FinnGen only) |
181 |
Control definitions (FinnGen only)
- Control exclude
- D3_BLOODOTHER
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D75
- Name in latin
- Erythrocytosis familialis
Similar endpoints
↥List of similar endpoints to
Familial erythrocytosis
based on the number of shared cases.
Similar with more cases:
- Other diseases of blood and blood-forming organs
- Other diseases of blood and blood-forming organs, wide
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any event in hilmo or specialist outpatient
- 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 | 1157 | 448 | 700 |
| Only index persons | 1033 | 383 | 650 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 56.72 | 59.64 | 54.64 |
| Only index persons | 55.02 | 57.68 | 53.46 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 181 | 72 | 109 |
| Unadjusted period prevalence (%) | 0.04 | 0.03 | 0.05 |
| Median age at first event (years) | 55.95 | 55.53 | 56.23 |
-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
- 184
- Matched controls
- 1840
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D75.0
ICD-10 Finland
Familial erythrocytosis
+∞
263.0
183
*
D45
ICD-10 Finland
Polycythaemia vera
57.0
80.7
47
11
XW000
NOMESCO Finland
Bone marrow biopsy
21.0
49.4
40
24
D75.1
ICD-10 Finland
Secondary polycythaemia
+∞
48.0
44
*
L01XX05
ATC
hydroxycarbamide; oral
42.6
23.8
29
8
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
9.6
22.9
29
35
D75.9
ICD-10 Finland
Disease of blood and blood-forming organs, unspecified
+∞
20.2
19
*
D75.2
ICD-10 Finland
Essential thrombocytosis
+∞
19.1
18
*
TPH00
NOMESCO Finland
Phlebotomy
40.5
12.4
15
*
9950/3-C42.1
ICD-O-3
Polycythemia vera of bone marrow
42.6
10.1
12
*
SPAT1074
SPAT
Venesection
52.5
8.8
10
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.4
8.3
34
116
D47.3
ICD-10 Finland
Essential (haemorrhagic) thrombocythaemia
35.0
8.2
10
*
E66.01
ICD-10 Finland
Obesity due to excess calories
4.0
7.9
24
67
215
Kela drug reimbursment
Diabetes, non-insulin-treated
2.6
7.9
58
275
A10BA02
ATC
metformin; oral
2.4
7.1
64
332
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
2.6
6.4
43
193
D75.8
ICD-10 Finland
Other specified diseases of blood and blood-forming organs
+∞
6.3
6
*
205
Kela drug reimbursment
Chronic hypertension
2.3
6.2
62
333
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
3.7
6.1
20
59
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
51
23
30.29
71.97
1.2
1.0
13.73
13.42
u/l
0.03
46
18
40
18
28.12
55.94
1.1
1.1
—
—
—
0
0
53
195
3.41
11.79
2.2
2.1
2.71
2.28
g/l
5.64
48
178
50
187
3.30
10.75
2.4
2.1
23.84
23.65
%
0.03
42
163
128
806
2.93
10.40
10.1
9.1
4.70
4.14
e9/l
1.28
117
694
71
413
2.17
5.81
3.5
3.8
5.39
10.96
mg/mmol
1.22
51
260
70
447
1.91
4.18
2.8
2.9
40.15
33.04
u/l
0.61
65
425
89
650
1.72
3.21
7.0
6.4
1.21
1.21
mmol/l
0.09
84
566
72
512
1.67
2.77
1.9
1.9
100.45
95.75
pmol/l
0.29
42
253
58
393
1.69
2.66
2.7
3.1
1816.24
1218.37
ng/l
0.41
47
336
87
662
1.60
2.50
20.9
11.8
1.45
1.22
inr
1.03
24
190
49
324
1.70
2.44
4.0
2.1
—
—
—
0
0
15
67
2.35
2.24
4.1
3.4
46.51
48.38
%
0.08
15
67
23
123
1.99
2.24
3.3
2.0
321.57
372.29
nmol/l
0.74
23
112
17
82
2.18
2.14
3.6
2.8
150.88
129.98
g/l
1.94
17
82
10
38
2.72
2.04
1.6
1.7
—
—
—
0
0
14
64
2.29
2.00
3.4
3.0
24.70
24.97
mmol/l
0.13
14
64
16
78
2.15
1.97
1.8
1.5
—
—
—
0
0
100
818
1.49
1.90
5.9
4.2
6.90
6.76
mmol/l
0.27
91
763
24
139
1.84
1.87
3.5
2.1
12.71
14.95
nmol/l
0.97
24
130
7
23
3.12
1.82
1.1
1.4
—
—
—
0
0
7
23
3.12
1.82
1.1
1.4
—
—
—
0
0
29
182
1.70
1.74
8.7
6.7
103.38
103.92
mmol/l
0.17
29
182
58
431
1.50
1.73
2.1
2.3
48.65
65.19
u/l
0.88
51
399
35
234
1.61
1.65
3.2
2.5
0.64
0.97
e6/l
0.71
22
129
140
1244
1.52
1.64
5.2
4.4
1.81
1.93
mu/l
0.61
132
1131
5
14
3.64
1.62
6.0
2.6
—
—
—
0
0
7
27
2.65
1.53
2.4
3.3
60.57
59.04
%
—
7
27
64
499
1.43
1.47
3.0
2.9
—
—
—
0
0
79
643
1.40
1.42
5.8
4.8
0.00
0.00
estimate
-0.00
12
124
5
17
2.99
1.37
1.6
1.1
—
—
—
0
0
147
1339
1.49
1.34
15.3
12.3
80.50
82.46
ml/min/173m2
0.51
133
1097
79
649
1.38
1.33
3.7
3.5
0.00
0.00
estimate
-0.00
12
116
78
640
1.38
1.32
3.6
3.5
0.00
0.01
estimate
0.50
15
131
32
222
1.53
1.30
3.2
2.6
2.66
2.15
e6/l
0.13
19
119
11
55
2.06
1.30
4.8
4.9
1.64
1.55
%
0.11
11
49
5
18
2.83
1.29
1.6
1.1
—
—
—
0
0
5
18
2.83
1.29
1.6
1.1
—
—
—
0
0
5
18
2.83
1.29
1.6
1.1
—
—
—
0
0
39
286
1.46
1.23
1.4
1.7
1.67
1.23
mg/l
0.15
32
219
5
19
2.68
1.22
1.6
1.1
—
—
—
0
0
5
19
2.68
1.22
1.6
1.1
—
—
—
0
0
31
217
1.52
1.22
1.8
1.8
—
—
—
0
0
6
26
2.35
1.19
1.2
1.7
—
—
—
0
0
20
127
1.64
1.17
4.0
3.4
2.57
1.97
mmol/l
0.35
15
101
10
51
2.02
1.13
1.5
1.7
159.30
253.28
pmol/l
—
10
46
148
1365
1.43
1.12
5.2
4.3
6.29
5.98
mmol/l
1.89
137
1253
112
989
1.34
1.12
3.6
2.9
61.80
47.43
u/l
1.24
106
930
77
644
1.34
1.11
4.1
2.3
—
—
—
0
0
12
67
1.85
1.07
3.0
2.6
0.67
0.68
%
0.08
12
67
55
447
1.33
0.95
3.6
3.8
21.54
21.89
%
0.07
25
193
12
70
1.76
0.95
3.0
2.6
1.33
1.49
%
0.27
12
70
22
152
1.51
0.93
1.7
1.7
—
—
—
0
0
153
1433
1.40
0.93
17.0
13.0
19.22
24.22
mg/l
1.30
127
1129
8
42
1.95
0.90
1.4
1.4
—
—
—
0
0
22
154
1.49
0.88
1.7
1.8
—
—
—
0
0
60
502
1.29
0.83
3.7
3.6
—
—
—
0
0
48
390
1.31
0.83
3.2
2.9
0.17
0.34
e6/l
0.87
38
286
12
74
1.66
0.80
8.5
6.6
24.29
24.79
mmol/l
0.17
12
74
6
33
1.84
0.80
1.0
1.3
—
—
—
0
0
36
282
1.34
0.79
1.3
1.2
0.85
1.58
u/ml
—
10
76
0
28
0.00
0.76
0.0
3.9
—
878.80
—
0
5
112
1018
1.26
0.76
3.9
3.9
7.31
11.53
mm/h
4.21
106
935
5
24
2.11
0.75
4.8
3.0
106.40
106.42
mmol/l
—
5
24
149
1404
1.32
0.74
5.3
4.3
1.21
1.41
mmol/l
8.66
143
1292
10
158
0.61
0.74
8.5
8.7
—
—
—
0
0
66
569
1.25
0.71
4.2
4.3
1.71
2.53
ug/l
0.74
61
505
144
1359
1.27
0.65
5.1
3.8
1.65
1.33
mmol/l
4.55
138
1249
5
29
1.74
0.64
1.6
1.3
—
—
—
0
0
5
29
1.74
0.64
1.4
1.1
—
—
—
0
0
64
556
1.23
0.64
3.5
3.7
27.81
50.62
ng/l
1.23
46
388
8
50
1.63
0.62
2.3
1.6
—
—
—
0
0
0
21
0.00
0.60
0.0
2.0
—
—
—
0
0
0
21
0.00
0.60
0.0
1.6
—
—
—
0
0
0
23
0.00
0.58
0.0
1.7
—
—
—
0
0
151
1440
1.27
0.57
6.0
4.7
2.69
2.77
mmol/l
0.51
146
1327
10
67
1.52
0.51
1.1
1.0
—
—
—
0
0
7
48
1.48
0.47
2.4
1.4
—
—
—
0
0
39
332
1.22
0.47
2.7
2.8
0.73
0.75
ug/l
0.08
24
197
5
32
1.58
0.42
1.2
1.3
—
—
—
0
0
19
150
1.30
0.42
1.3
1.3
—
—
—
0
0
94
873
1.16
0.41
2.9
3.0
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.7
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
21
169
1.27
0.41
4.1
5.1
1.05
1.05
mmol/l
0.05
21
157
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
19
232
0.80
0.36
1.4
1.3
11.60
32.17
iu/ml
—
5
81
6
44
1.38
0.35
2.2
1.2
0.18
0.24
g/l
—
6
44
6
46
1.31
0.33
1.8
1.2
1.23
1.17
g/l
—
6
46
11
141
0.77
0.30
1.4
2.2
—
—
—
0
0
10
130
0.76
0.30
1.4
2.1
—
—
—
0
0
18
214
0.82
0.28
1.5
1.2
9.47
8.60
u/ml
—
6
81
16
133
1.22
0.25
15.4
7.4
131.44
121.71
g/l
1.10
16
128
5
37
1.36
0.23
1.6
1.2
—
—
—
0
0
163
1600
1.16
0.22
29.8
19.0
44.96
40.81
%
6.70
157
1503
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
2.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
2.8
—
129.97
—
0
12
163
1601
1.16
0.21
29.4
19.1
153.27
137.88
g/l
13.16
163
1575
0
13
0.00
0.21
0.0
1.7
—
4.05
—
0
13
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
24
214
1.14
0.18
2.0
2.8
0.84
0.82
mmol/l
0.44
24
199
31
338
0.90
0.17
3.8
3.8
0.00
0.00
estimate
-0.00
12
118
26
235
1.12
0.17
2.7
3.3
2.45
2.45
mmol/l
0.02
20
209
11
130
0.84
0.16
2.2
1.7
—
—
—
0
0
29
267
1.10
0.14
5.2
3.3
87.91
447.05
ng/l
0.54
22
202
5
60
0.83
0.08
1.0
1.3
—
—
—
0
0
9
83
1.09
0.07
1.9
1.3
—
—
—
0
0
21
224
0.93
0.07
1.5
1.5
—
—
—
0
0
10
92
1.09
0.03
1.6
1.3
—
—
—
0
0
14
136
1.03
0.00
2.3
3.4
—
—
—
0
0
26
255
1.02
0.00
1.9
1.7
941.59
1209.53
nmol/l
1.00
21
200
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
54.83
—
0
6
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
0.30
—
0
6
0
8
0.00
0.00
0.0
1.4
—
14.28
—
0
8
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
9
92
0.98
-0.00
4.3
3.5
1.23
1.22
mmol/l
—
9
83
0
9
0.00
-0.00
0.0
1.2
—
116.67
—
0
9
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
10.47
—
0
7
0
7
0.00
-0.00
0.0
1.3
—
10.19
—
0
7
0
9
0.00
-0.00
0.0
2.0
—
50.84
—
0
9
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
103.80
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
17.80
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_FAMIERYTHROCYTOCIS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_FAMIERYTHROCYTOCIS | 2.131 [1.65, 2.76] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.091 |
During the follow-up period (1.1.1998 — 31.12.2019), 121 out of 403 females with D3_FAMIERYTHROCYTOCIS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_FAMIERYTHROCYTOCIS | 1.315 [1.05, 1.65] | 0.018 |
| Birth year | 0.99 [0.98, 1.0] | 0.029 |
During the follow-up period (1.1.1998 — 31.12.2019), 131 out of 643 males with D3_FAMIERYTHROCYTOCIS died.
Mortality risk
Mortality risk for people of age
years, who have D3_FAMIERYTHROCYTOCIS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.197% | 0.228% |
| 5 | 1.084% | 1.671% |
| 10 | 2.786% | 4.14% |
| 15 | 5.386% | 7.803% |
| 20 | 9.707% | 13.227% |
Relationships between endpoints
↥Index endpoint: D3_FAMIERYTHROCYTOCIS – Familial erythrocytosis
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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