Hereditary spherocytosis

D3_HERESPHERO

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 D58.0
  • Hospital discharge: ICD-9 2820A
  • Hospital discharge: ICD-8 2820
  • Cause of death: ICD-10 D58.0
  • Cause of death: ICD-9 2820A
  • Cause of death: ICD-8 2820

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

100

4. Check minimum number of events

None

100

5. Include endpoints

None

100

6. Filter based on genotype QC (FinnGen only)

100

Control definitions (FinnGen only)

Control exclude
D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D58
Name in latin
Sphaerocytosis hereditaria

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1328 648 674
Only index persons 1089 542 547
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 12.11 13.89 10.13
Only index persons 13.65 15.91 11.41

-FinnGen-

Key figures

All Female Male
Number of individuals 100 57 43
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 26.11 24.56 28.17

-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 (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
88
Matched controls
878
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D58.0
ICD-10 Finland
Hereditary spherocytosis
+∞
70.5
58
*
28200
ICD-8 Finland
Hereditary haemolytic anaemias, Familial acholuric jaundice
+∞
32.3
29
*
2820A
ICD-9 Finland
Hereditary haemolytic anaemias, Hereditary spherocytosis
+∞
17.2
16
*
JMA11
NOMESCO Finland
Laparoscopic total splenectomy
+∞
9.5
9
*
JMA10
NOMESCO Finland
Transabdominal total splenectomy
86.9
7.5
8
*
6753
FHL
Transabdominal splenectomy
+∞
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
35
52
9.82
24.30
5.7
3.0
159.8
74.5
e9/l
6.75
27
37
11
7
17.43
7.42
1.4
1.7
—
—
—
0
0
67
400
3.05
6.47
6.4
5.8
0.8
0.6
e9/l
2.76
59
356
67
401
3.03
6.43
6.4
5.8
0.1
0.0
e9/l
3.69
59
356
74
472
3.18
6.25
9.0
9.3
5.1
4.0
e9/l
2.28
64
418
68
415
3.00
6.21
6.6
6.6
0.2
0.2
e9/l
0.31
61
376
68
415
3.00
6.21
6.5
5.8
2.3
2.0
e9/l
1.81
61
375
48
260
2.63
5.28
6.5
5.9
—
—
—
0
0
38
202
2.42
4.17
4.2
6.7
—
—
—
0
0
32
165
2.38
3.70
2.2
1.5
22.7
23.7
nmol/l
0.12
26
138
45
273
2.18
3.51
2.2
1.8
98.7
96.1
pmol/l
0.16
26
139
50
323
2.10
3.26
4.9
6.0
1.2
1.2
mmol/l
0.02
45
296
54
360
2.09
3.23
8.4
7.9
0.0
0.0
e9/l
0.55
43
290
40
247
2.03
2.87
2.4
3.2
2.4
2.4
mmol/l
1.00
28
219
32
186
2.06
2.67
2.0
2.7
344.8
4892.5
umol/l
0.79
26
161
16
69
2.57
2.64
1.5
1.3
—
—
—
0
0
10
35
3.06
2.38
1.7
2.3
—
—
—
0
0
9
28
3.43
2.37
1.6
4.9
21.6
20.2
s
—
9
22
40
261
1.89
2.37
5.3
7.9
1.1
1.2
inr
1.38
12
75
6
13
4.83
2.30
1.0
1.2
—
—
—
0
0
22
117
2.13
2.29
3.3
2.4
2.4
2.4
mmol/l
0.08
17
96
15
68
2.42
2.24
6.7
6.0
5.3
5.1
kpa
0.45
15
63
26
154
1.93
2.02
2.0
2.3
1.1
0.8
mg/l
0.38
14
118
15
72
2.27
1.98
1.5
6.7
—
—
—
0
0
6
17
3.68
1.86
1.5
1.2
—
—
—
0
0
13
61
2.30
1.81
2.8
2.8
10.9
9.8
g/l
0.64
13
56
6
18
3.48
1.77
1.5
1.7
—
—
—
0
0
7
25
2.93
1.68
1.4
1.8
—
—
—
0
0
72
599
1.72
1.62
3.3
3.9
14.6
14.7
pmol/l
0.16
65
543
31
209
1.70
1.56
2.1
3.5
0.1
0.2
e6/l
0.24
23
159
21
126
1.84
1.56
1.5
1.9
356.9
449.7
pmol/l
1.40
21
103
9
37
2.57
1.52
9.3
6.9
0.9
0.6
%
—
9
37
9
38
2.50
1.50
9.3
6.7
2.4
1.6
%
—
9
38
62
507
1.59
1.40
4.4
4.6
—
462.2
—
0
9
28
189
1.67
1.39
4.9
4.1
—
—
—
0
0
6
23
2.71
1.39
1.5
1.1
0.5
3.0
e6/l
—
6
18
20
124
1.77
1.33
1.2
1.3
14.9
6.0
u/ml
—
8
50
8
34
2.47
1.32
1.5
2.0
—
—
—
0
0
21
310
0.59
1.31
1.7
2.7
—
—
—
0
0
5
18
2.87
1.30
1.4
1.1
—
—
—
0
0
5
18
2.87
1.30
1.0
1.4
—
—
—
0
0
11
56
2.08
1.27
4.3
9.0
24.2
24.7
mmol/l
0.20
11
56
6
25
2.49
1.26
1.3
1.1
—
—
—
0
0
6
25
2.49
1.26
1.3
1.1
—
—
—
0
0
8
38
2.20
1.21
3.6
4.3
—
—
—
0
0
30
215
1.56
1.16
2.1
3.2
—
—
—
0
0
16
97
1.77
1.15
2.0
1.6
—
—
—
0
0
5
21
2.45
1.10
2.6
3.6
—
—
—
0
0
12
68
1.87
1.06
6.9
8.3
—
—
—
0
0
9
47
2.00
1.05
1.9
4.4
—
—
—
0
0
39
303
1.47
1.03
1.8
2.0
—
—
—
0
0
32
239
1.50
1.02
2.2
3.6
11.4
48.7
e6/l
0.85
24
187
21
143
1.59
1.00
1.4
2.7
479.8
569.3
mosm/kgh2o
0.95
16
121
26
187
1.53
0.99
1.6
1.5
2.2
2.5
g/l
0.25
13
113
67
581
1.46
0.98
4.7
3.8
11.8
9.9
mm/h
0.44
59
539
25
180
1.52
0.94
5.4
4.1
—
—
—
0
0
12
72
1.76
0.90
1.3
1.8
—
—
—
0
0
13
80
1.72
0.90
1.2
1.3
—
—
—
0
0
91
854
1.73
0.87
16.4
13.3
65.3
72.9
umol/l
4.14
91
854
8
46
1.80
0.85
1.4
1.3
—
—
—
0
0
11
67
1.72
0.79
1.4
1.3
—
—
—
0
0
6
34
1.81
0.77
1.2
1.2
—
—
—
0
0
5
23
2.23
0.77
2.4
1.2
—
—
—
0
0
15
101
1.57
0.75
1.5
1.2
—
—
—
0
0
23
172
1.44
0.72
3.2
4.0
—
—
—
0
0
85
790
1.51
0.70
19.4
12.6
39.9
40.5
%
0.40
70
636
7
42
1.72
0.70
1.1
1.1
—
—
—
0
0
7
43
1.67
0.68
1.0
1.7
—
—
—
0
0
5
28
1.83
0.67
1.4
1.5
—
—
—
0
0
14
97
1.52
0.63
1.1
1.2
—
—
—
0
0
0
23
0.00
0.59
0.0
4.2
—
23.2
—
0
17
6
35
1.76
0.59
1.7
5.7
135.7
127.4
g/l
—
6
35
57
508
1.28
0.55
3.2
3.4
—
—
—
0
0
10
66
1.57
0.55
3.1
5.2
—
—
—
0
0
17
127
1.41
0.54
3.1
4.6
0.8
0.8
mmol/l
0.54
17
120
33
275
1.30
0.53
3.3
4.4
172.3
23.0
e6/l
0.58
24
200
15
112
1.40
0.48
2.8
2.3
0.8
0.7
ug/l
—
6
58
6
93
0.62
0.45
2.5
1.8
—
—
—
0
0
8
55
1.49
0.44
1.5
1.2
143.1
148.5
u/ml
—
8
47
0
16
0.00
0.41
0.0
3.4
—
17.1
—
0
16
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
5
34
1.49
0.41
1.8
1.6
—
—
—
0
0
29
246
1.25
0.40
1.6
1.5
—
—
—
0
0
79
746
1.28
0.40
2.8
3.6
1.2
1.3
mmol/l
0.23
73
687
79
747
1.27
0.39
21.8
15.2
345.8
333.9
g/l
11.30
79
742
87
833
1.34
0.38
17.1
11.9
20.2
21.4
mg/l
0.17
72
633
77
727
1.26
0.38
4.3
4.4
1.8
1.9
mu/l
0.36
72
671
29
248
1.24
0.37
2.6
3.4
15.8
45.0
ng/l
0.90
14
152
6
42
1.46
0.36
1.3
1.1
—
—
—
0
0
6
42
1.46
0.36
1.2
1.3
—
—
—
0
0
16
128
1.30
0.34
1.5
1.7
—
—
—
0
0
20
166
1.26
0.33
1.5
1.7
—
—
—
0
0
89
859
1.33
0.32
15.3
11.3
—
—
—
0
0
10
75
1.37
0.31
1.0
1.1
—
—
—
0
0
18
215
0.80
0.31
3.3
3.1
—
—
—
0
0
12
94
1.31
0.29
1.3
1.3
—
—
—
0
0
20
234
0.82
0.28
2.1
3.0
—
—
—
0
0
42
383
1.17
0.27
4.4
5.3
0.0
0.0
estimate
—
8
67
22
190
1.20
0.26
3.1
3.4
—
—
—
0
0
12
97
1.27
0.24
3.2
7.7
1.1
1.2
mmol/l
0.58
12
87
80
770
1.19
0.24
3.3
3.9
1.3
1.5
mmol/l
3.60
75
715
7
91
0.75
0.23
1.3
1.4
—
—
—
0
0
5
40
1.26
0.23
1.0
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
6.0
—
—
—
0
0
0
11
0.00
0.21
0.0
2.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
119.4
—
0
10
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
3.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
42
390
1.13
0.20
3.0
3.8
0.0
0.0
estimate
—
9
66
27
244
1.15
0.19
3.2
2.3
—
—
—
0
0
32
295
1.12
0.16
3.1
3.8
—
—
—
0
0
41
384
1.11
0.16
2.9
3.7
0.0
0.0
estimate
—
8
70
9
80
1.14
0.15
5.4
2.1
435.3
373.5
nmol/l
—
9
73
57
546
1.10
0.14
4.6
4.5
—
—
—
0
0
11
127
0.85
0.13
1.5
1.5
—
—
—
0
0
18
163
1.13
0.11
3.4
3.4
23.1
141.9
mg/l
—
10
98
10
87
1.17
0.10
1.2
1.6
—
—
—
0
0
11
124
0.87
0.09
1.5
1.7
—
—
—
0
0
5
47
1.07
0.09
1.4
1.6
—
—
—
0
0
23
214
1.10
0.09
1.8
2.1
—
—
—
0
0
5
62
0.80
0.08
1.8
2.0
—
—
—
0
0
7
67
1.05
0.08
2.3
3.1
—
—
—
0
0
72
731
0.95
0.04
3.8
4.0
5.7
5.8
mmol/l
0.16
67
679
21
203
1.04
0.01
2.6
3.8
0.0
0.0
estimate
—
9
69
17
172
0.99
0.00
3.9
4.2
4.6
16.1
mg/mmol
—
10
100
5
54
0.92
0.00
1.2
1.2
—
—
—
0
0
5
53
0.94
0.00
1.4
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
2.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
11.6
—
0
6
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
69
690
1.00
0.00
4.4
4.7
30.2
38.5
mmol/mol
8.28
60
651
0
9
0.00
0.00
0.0
16.2
—
1989.3
—
0
9
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
5
58
0.85
0.00
2.2
5.0
—
—
—
0
0
5
53
0.94
0.00
1.4
1.5
—
—
—
0
0
0
9
0.00
0.00
0.0
7.6
—
979.3
—
0
9
6
65
0.92
0.00
1.0
1.2
—
113.9
—
0
21
0
7
0.00
0.00
0.0
1.3
—
5.8
—
0
7
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
5
53
0.94
0.00
4.4
3.8
1.3
1.2
mmol/l
—
5
47
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
5
53
0.94
0.00
1.4
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
5
53
0.94
0.00
1.4
1.5
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint D3_HERESPHERO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_HERESPHERO.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: D3_HERESPHERO – Hereditary spherocytosis

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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