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. |
174 |
4. Check minimum number of eventsNone |
174 |
5. Include endpoints |
224 |
6. Filter based on genotype QC (FinnGen only) |
206 |
Control definitions (FinnGen only)
- Control exclude
- D3_HAEMOLYTICANAEMIA
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D55-D59
- Name in latin
- Aliae anaemiae haemolyticae hereditariae
Similar endpoints
↥List of similar endpoints to
Other hereditary haemolytic anaemias
based on the number of shared cases.
Similar with more cases:
- Haemolytic anaemias
- Anaemias
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2471 | 1228 | 1174 |
| Only index persons | 1959 | 1005 | 954 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.04 | 0.03 |
| Only index persons | 0.04 | 0.04 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 24.85 | 27.81 | 21.09 |
| Only index persons | 25.64 | 27.68 | 23.49 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 206 | 117 | 89 |
| Unadjusted period prevalence (%) | 0.04 | 0.04 | 0.04 |
| Median age at first event (years) | 38.85 | 35.24 | 43.60 |
-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
- 224
- Matched controls
- 2240
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D58.0
ICD-10 Finland
Hereditary spherocytosis
+∞
77.7
70
*
D58.2
ICD-10 Finland
Other haemoglobinopathies
+∞
77.7
70
*
28200
ICD-8 Finland
Hereditary haemolytic anaemias, Familial acholuric jaundice
+∞
35.3
33
*
D58.9
ICD-10 Finland
Hereditary haemolytic anaemia, unspecified
+∞
22.3
21
*
2820A
ICD-9 Finland
Hereditary haemolytic anaemias, Hereditary spherocytosis
+∞
19.0
18
*
D64.9
ICD-10 Finland
Anaemia, unspecified
5.2
18.0
42
96
D58.8
ICD-10 Finland
Other specified hereditary haemolytic anaemias
+∞
13.7
13
*
D58.1
ICD-10 Finland
Hereditary elliptocytosis
+∞
13.7
13
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
4.4
12.9
36
94
JMA11
NOMESCO Finland
Laparoscopic total splenectomy
+∞
12.6
12
*
D59.9
ICD-10 Finland
Acquired haemolytic anaemia, unspecified
+∞
10.5
10
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.2
9.6
44
161
D75.1
ICD-10 Finland
Secondary polycythaemia
104.3
9.5
10
*
28299
ICD-8 Finland
Hereditary haemolytic anaemias, Other
+∞
9.4
9
*
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
2.9
7.2
36
137
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
3.3
7.1
29
98
JMA10
NOMESCO Finland
Transabdominal total splenectomy
17.3
6.8
10
6
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.2
6.6
70
381
O99.1
ICD-10 Finland
Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium
71.8
6.5
7
*
R79.8
ICD-10 Finland
Other specified abnormal findings of blood chemistry
71.8
6.5
7
*
6753
FHL
Transabdominal splenectomy
+∞
6.3
6
*
D59.1
ICD-10 Finland
Other autoimmune haemolytic anaemias
+∞
6.3
6
*
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
64
61
14.29
61.51
3.9
1.5
0.74
1.47
g/l
4.76
47
51
37
38
11.47
33.02
2.3
1.5
—
—
—
0
0
106
404
4.08
23.83
3.5
2.2
5.13
3.04
mg/l
2.88
94
345
72
217
4.42
22.16
3.5
2.3
26.99
24.34
%
0.56
67
191
170
1063
3.49
15.07
13.1
9.2
4.49
4.01
e9/l
1.51
155
937
141
810
3.00
14.14
5.1
2.7
176.92
99.40
ug/l
3.63
135
757
150
917
2.92
12.95
12.6
5.7
19.47
11.08
umol/l
7.11
144
866
69
279
3.13
12.92
1.8
1.6
1241.45
1224.21
nmol/l
0.05
58
209
16
5
34.26
12.75
2.2
1.0
—
—
—
0
0
16
5
34.26
12.75
2.2
1.0
—
—
—
0
0
78
368
2.72
10.76
2.1
1.5
21.67
21.83
nmol/l
0.03
70
306
20
25
8.67
9.57
1.1
1.1
—
—
—
0
0
85
446
2.46
9.18
2.9
2.7
336.82
8654.88
umol/l
2.71
72
393
117
719
2.31
8.69
6.9
4.7
36.77
36.32
g/l
0.36
111
680
121
758
2.30
8.54
6.9
5.7
1.21
1.22
mmol/l
0.39
113
700
107
641
2.28
8.35
2.3
1.8
86.79
97.31
pmol/l
1.95
65
319
41
161
2.89
7.81
3.3
4.7
1.92
1.82
mmol/l
0.07
36
124
125
830
2.14
7.22
6.7
6.6
1.21
1.22
mmol/l
0.83
110
713
40
166
2.72
6.84
3.3
4.6
5.97
5.83
kpa
0.41
40
158
9
5
18.67
6.31
7.6
1.6
209.00
223.60
u/l
—
9
5
39
171
2.55
5.95
6.3
7.2
1.13
1.16
mmol/l
0.01
31
139
38
169
2.50
5.63
6.2
7.1
12.89
12.83
kpa
0.02
38
162
38
169
2.50
5.63
6.2
7.2
5.06
5.16
kpa
0.29
38
161
174
1379
2.17
5.57
11.9
6.9
76.60
78.13
u/l
0.23
168
1289
34
145
2.59
5.48
2.9
3.7
4.56
4.64
kpa
0.07
34
137
91
581
1.95
5.43
3.3
3.2
2.38
2.35
mmol/l
0.76
74
525
12
18
6.98
5.33
2.2
1.3
30.25
33.06
pg
0.55
12
18
28
111
2.74
5.20
7.4
7.3
25.38
25.03
mmol/l
0.16
28
111
66
383
2.03
5.13
5.7
1.8
0.97
1.21
mg/l
0.47
51
288
37
173
2.36
4.90
3.5
2.3
28.94
32.20
u/l
0.40
32
142
18
57
3.35
4.88
1.4
1.3
—
—
—
0
0
54
296
2.09
4.87
3.2
2.8
2.44
2.44
mmol/l
0.02
44
258
31
134
2.52
4.86
6.0
6.4
1.23
1.39
mmol/l
0.52
31
128
14
31
4.75
4.64
1.1
1.5
—
—
—
0
0
14
31
4.75
4.64
1.1
1.5
—
—
—
0
0
38
185
2.27
4.59
7.5
6.9
104.26
104.04
mmol/l
0.10
38
185
15
38
4.16
4.39
1.4
1.2
6.90
4.50
u/ml
—
10
18
36
184
2.14
3.86
2.0
1.6
—
—
—
0
0
104
751
1.72
3.83
15.1
10.7
1.19
1.18
inr
0.04
30
234
7
8
8.98
3.80
2.6
1.8
11.86
9.50
umol/l
—
7
8
8
12
6.86
3.70
3.0
2.2
—
—
—
0
0
35
180
2.12
3.69
1.9
1.6
—
—
—
0
0
44
250
1.95
3.54
3.2
2.3
30.89
29.72
s
0.57
44
245
72
488
1.70
3.24
3.0
3.0
0.21
0.29
e6/l
0.41
51
363
8
15
5.49
3.22
1.9
1.4
—
—
—
0
0
13
40
3.39
3.20
1.2
1.7
—
—
—
0
0
13
41
3.30
3.11
1.3
1.3
—
—
—
0
0
12
36
3.46
3.07
1.4
1.4
—
—
—
0
0
7
12
5.98
3.04
1.4
1.4
—
—
—
0
0
166
1405
1.70
3.02
4.1
3.9
14.67
14.67
pmol/l
0.01
151
1279
29
150
2.07
3.02
3.9
4.6
2.67
6.90
ug/l
1.30
24
121
163
1374
1.68
3.01
5.0
3.9
11.68
10.13
mm/h
0.71
150
1272
113
873
1.59
2.97
4.9
2.4
—
—
—
0
0
46
282
1.79
2.91
3.1
3.0
1.42
2.87
e6/l
0.93
24
161
11
35
3.25
2.68
1.1
1.1
—
—
—
0
0
63
433
1.63
2.63
6.4
3.2
1482.75
947.56
ng/l
0.43
56
358
43
267
1.76
2.61
2.0
1.8
—
—
—
0
0
5
7
7.27
2.56
2.0
3.1
31180.00
32700.00
ug/l
—
5
7
205
1883
2.05
2.37
22.5
11.9
21.57
21.45
mg/l
0.02
173
1454
19
93
2.14
2.29
10.3
7.5
25.33
25.08
mmol/l
0.09
19
88
211
1965
2.27
2.25
24.0
13.7
71.92
73.68
umol/l
0.47
211
1965
95
740
1.49
2.23
2.6
2.4
76.80
74.13
nmol/l
0.32
87
664
25
138
1.91
2.20
2.4
2.8
82.70
67.59
ml/min/173m2
—
10
54
6
14
4.37
2.16
1.0
1.0
—
—
—
0
0
5
10
5.09
2.08
1.8
2.0
267.40
1010.50
u/ml
—
5
10
47
318
1.60
2.07
1.3
1.3
12.44
27.34
iu/ml
2.23
11
115
11
44
2.58
2.04
1.4
1.4
—
—
—
0
0
8
26
3.15
2.03
2.1
1.9
—
—
—
0
0
46
312
1.60
2.00
1.7
1.8
374.34
463.18
pmol/l
1.50
41
261
12
52
2.38
1.91
1.5
1.4
—
—
—
0
0
17
87
2.03
1.85
2.6
2.3
10144.20
2328.80
u/l
—
5
27
7
23
3.11
1.81
2.9
1.5
—
—
—
0
0
11
47
2.41
1.80
2.4
2.6
—
—
—
0
0
17
88
2.01
1.80
1.7
1.5
—
—
—
0
0
7
24
2.98
1.73
1.1
1.5
—
—
—
0
0
43
300
1.54
1.66
2.9
2.9
0.39
0.92
e6/l
1.60
21
177
146
1277
1.41
1.66
3.7
3.2
41.11
44.33
u/l
0.38
141
1218
20
114
1.83
1.62
1.5
1.5
—
—
—
0
0
60
451
1.45
1.62
1.2
1.2
0.62
1.47
u/ml
1.07
11
123
9
184
0.47
1.59
1.6
1.6
—
—
—
0
0
7
27
2.64
1.52
1.1
1.0
—
1.18
—
0
12
42
302
1.48
1.41
3.0
3.1
75.94
271.16
ng/l
1.56
32
217
5
18
2.82
1.29
1.2
1.3
—
—
—
0
0
16
92
1.80
1.29
3.2
3.6
135.56
128.27
g/l
0.41
16
92
185
1717
1.44
1.28
19.8
10.9
90.63
86.60
ml/min/173m2
1.55
169
1389
13
71
1.88
1.22
2.0
1.7
—
—
—
0
0
55
431
1.37
1.16
4.9
2.1
—
—
—
0
0
76
628
1.32
1.13
4.5
3.5
23.45
47.47
ng/l
1.48
48
404
182
1699
1.38
1.08
5.1
4.6
1.91
1.87
mu/l
0.20
171
1563
7
33
2.16
1.06
1.6
1.3
—
—
—
0
0
13
75
1.78
1.05
3.4
3.0
0.54
0.67
%
0.69
13
75
14
83
1.73
1.04
2.1
1.3
—
—
—
0
0
7
34
2.09
1.04
1.1
1.1
—
—
—
0
0
7
35
2.03
1.01
1.1
1.5
—
—
—
0
0
5
23
2.20
0.98
1.2
1.6
—
—
—
0
0
6
27
2.25
0.94
1.2
1.6
—
—
—
0
0
19
128
1.53
0.89
3.3
3.9
3.77
1.09
mmol/l
1.39
11
87
6
30
2.03
0.87
1.2
1.1
—
—
—
0
0
25
180
1.44
0.86
4.8
3.0
—
—
—
0
0
23
165
1.44
0.81
1.5
2.0
—
—
—
0
0
40
316
1.32
0.81
1.3
1.3
6.90
8.85
u/ml
0.18
20
124
37
291
1.33
0.77
2.5
2.6
0.56
0.76
ug/l
1.02
22
180
9
53
1.73
0.76
1.1
1.0
—
5.79
—
0
7
9
54
1.69
0.75
2.0
1.4
—
—
—
0
0
5
24
2.11
0.75
2.0
1.3
—
—
—
0
0
5
26
1.94
0.71
1.0
1.4
—
—
—
0
0
5
26
1.94
0.71
1.0
1.1
—
—
—
0
0
13
87
1.52
0.65
1.3
1.4
21.49
24.49
iu/l
—
7
72
5
29
1.74
0.64
1.4
1.5
—
—
—
0
0
5
29
1.74
0.64
1.2
1.1
—
—
—
0
0
215
2101
1.58
0.63
34.5
17.9
39.42
40.48
%
1.25
209
1992
25
192
1.34
0.62
9.4
7.1
—
—
—
0
0
55
469
1.23
0.62
3.7
3.8
4.19
12.03
mg/mmol
1.84
37
297
0
22
0.00
0.59
0.0
1.7
—
—
—
0
0
0
22
0.00
0.59
0.0
1.8
—
—
—
0
0
0
22
0.00
0.59
0.0
1.8
—
—
—
0
0
0
23
0.00
0.58
0.0
1.7
—
—
—
0
0
0
23
0.00
0.58
0.0
1.7
—
—
—
0
0
0
23
0.00
0.58
0.0
1.7
—
—
—
0
0
26
327
0.77
0.58
1.3
1.4
—
—
—
0
0
56
482
1.22
0.58
4.1
3.6
0.00
0.02
estimate
0.50
22
158
6
35
1.73
0.58
2.0
3.3
4.87
10.16
umol/l
—
6
26
10
65
1.56
0.56
1.4
2.2
—
—
—
0
0
11
74
1.51
0.54
3.9
3.8
27.58
24.83
mmol/l
1.70
11
74
6
40
1.51
0.52
1.8
1.7
—
—
—
0
0
180
1730
1.21
0.49
3.7
3.7
1.30
1.29
mmol/l
0.02
163
1600
56
494
1.18
0.45
4.3
4.3
1.58
1.94
ug/l
0.70
50
446
171
1641
1.18
0.44
5.8
5.1
35.56
39.19
mmol/mol
3.46
153
1543
5
31
1.63
0.43
1.4
3.7
59.40
56.52
%
—
5
31
142
1346
1.15
0.43
3.9
3.3
—
—
—
0
0
8
59
1.37
0.41
1.1
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.3
—
187.50
—
0
15
0
19
0.00
0.39
0.0
4.1
—
91.56
—
0
19
95
882
1.13
0.38
3.9
3.5
0.00
0.00
estimate
-0.00
22
171
5
37
1.36
0.37
2.0
1.5
—
—
—
0
0
95
884
1.13
0.37
5.1
4.8
0.00
0.00
estimate
-0.00
22
165
17
135
1.28
0.36
1.5
1.9
—
—
—
0
0
6
42
1.44
0.36
1.8
1.6
—
—
—
0
0
96
896
1.13
0.35
3.9
3.5
0.00
0.00
estimate
-0.00
22
160
47
418
1.16
0.35
1.7
1.6
—
—
—
0
0
185
1801
1.16
0.32
4.2
4.2
4.23
4.70
mmol/l
8.12
176
1684
44
394
1.15
0.30
5.6
4.0
20.10
21.16
%
0.13
12
173
186
1817
1.14
0.27
4.8
4.6
2.55
2.79
mmol/l
3.26
175
1690
8
67
1.20
0.26
1.1
2.0
—
—
—
0
0
8
67
1.20
0.26
1.4
1.2
—
—
—
0
0
9
73
1.24
0.26
1.2
1.4
—
—
—
0
0
9
73
1.24
0.26
1.2
1.4
—
—
—
0
0
9
74
1.23
0.25
1.8
1.4
—
—
—
0
0
9
74
1.23
0.25
4.4
3.5
43.52
44.52
%
—
9
74
6
81
0.73
0.24
1.8
1.7
—
—
—
0
0
183
1791
1.12
0.23
4.1
4.1
1.29
1.47
mmol/l
9.15
169
1667
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
10
0.00
0.21
0.0
1.0
—
123.30
—
0
10
5
43
1.17
0.21
1.0
1.3
—
—
—
0
0
8
68
1.18
0.17
1.1
2.2
—
—
—
0
0
8
69
1.17
0.16
1.4
1.2
—
—
—
0
0
8
73
1.10
0.16
1.3
1.4
—
—
—
0
0
9
80
1.13
0.15
1.4
1.5
—
—
—
0
0
14
123
1.15
0.13
1.0
1.0
—
—
—
0
0
29
269
1.09
0.12
1.5
1.9
—
—
—
0
0
6
54
1.11
0.09
1.5
1.4
—
—
—
0
0
6
58
1.04
0.08
1.3
1.6
—
—
—
0
0
9
101
0.89
0.06
6.3
2.6
0.03
0.09
e6/l
—
9
96
16
148
1.09
0.06
2.0
2.4
—
18.63
—
0
6
14
130
1.08
0.04
1.2
1.3
—
45.76
—
0
5
47
483
0.97
0.04
1.8
1.7
1.44
1.44
mmol/l
0.00
41
412
174
1730
1.03
0.02
4.7
4.2
6.04
5.87
mmol/l
0.93
163
1598
70
691
1.02
0.02
3.9
3.5
—
—
—
0
0
13
123
1.06
0.01
1.4
1.3
—
—
—
0
0
13
136
0.95
0.00
1.4
1.5
—
—
—
0
0
30
296
1.02
0.00
1.6
2.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
0.34
—
0
9
0
9
0.00
0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
0.00
0.0
2.1
—
—
—
0
0
0
9
0.00
0.00
0.0
2.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
10.85
—
0
5
0
8
0.00
-0.00
0.0
2.1
—
53.62
—
0
8
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.3
—
—
—
0
0
6
60
1.00
-0.00
1.3
1.5
—
—
—
0
0
6
61
0.98
-0.00
1.7
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_HEREDHAEMOLYTICANAEMIAOTHER and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_HEREDHAEMOLYTICANAEMIAOTHER | 2.308 [1.7, 3.13] | < 0.001 |
| Birth year | 0.997 [0.99, 1.01] | 0.442 |
During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 731 females with D3_HEREDHAEMOLYTICANAEMIAOTHER died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_HEREDHAEMOLYTICANAEMIAOTHER | 2.124 [1.51, 2.99] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 684 males with D3_HEREDHAEMOLYTICANAEMIAOTHER died.
Mortality risk
Mortality risk for people of age
years, who have D3_HEREDHAEMOLYTICANAEMIAOTHER.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.155% | 0.381% |
| 5 | 1.246% | 2.119% |
| 10 | 3.404% | 5.639% |
| 15 | 6.755% | 10.52% |
| 20 | 11.738% | 17.51% |
Relationships between endpoints
↥Index endpoint: D3_HEREDHAEMOLYTICANAEMIAOTHER – Other hereditary haemolytic anaemias
GWS hits: 3
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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