Other sideroblastic anaemias

D3_SIDEROANAMIEAOTHER

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 D64.3
  • Hospital discharge: ICD-9 2850X
  • Hospital discharge: ICD-8 28500
  • Cause of death: ICD-10 D64.3
  • Cause of death: ICD-9 2850X
  • Cause of death: ICD-8 28500

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

152

4. Check minimum number of events

None

152

5. Include endpoints

None

152

6. Filter based on genotype QC (FinnGen only)

138

Control definitions (FinnGen only)

Control exclude
D3_APLASTICANDOTHANAEMIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D64
Name in latin
Aliae anaemia sideroblasticae

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 1579 915 635
Only index persons 1006 616 390
Unadjusted period prevalence (%)
Whole population 0.02 0.03 0.02
Only index persons 0.02 0.02 0.01
Median age at first event (years)
Whole population 71.02 71.37 70.40
Only index persons 65.44 64.99 66.15

-FinnGen-

Key figures

All Female Male
Number of individuals 138 67 71
Unadjusted period prevalence (%) 0.03 0.02 0.03
Median age at first event (years) 66.70 63.51 69.72

-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
141
Matched controls
1410
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D64.3
ICD-10 Finland
Other sideroblastic anaemias
+∞
166.6
125
*
D64.9
ICD-10 Finland
Anaemia, unspecified
48.0
108.2
72
30
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
10.1
31.1
42
57
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
5.6
23.4
80
268
B82
ICPC
Anaemia other/unspecified
17.4
16.6
26
18
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
17.7
13.1
20
13
28500
ICD-8 Finland
Other and unspecified anaemias, Hypochromic anaemia with iron loading
+∞
12.7
12
*
UJF92
NOMESCO Finland
Capsular endoscopy
27.7
11.4
15
6
WW500
NOMESCO Finland
Blood transfusion
10.1
10.7
21
24
UJF32
NOMESCO Finland
Coloscopy
3.2
9.7
53
222
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
4.9
9.2
22
51
XW000
NOMESCO Finland
Bone marrow biopsy
9.5
8.6
17
20
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
3.2
7.9
38
146
ZX120
NOMESCO Finland
Intravenous
3.7
7.7
27
84
D64.0
ICD-10 Finland
Hereditary sideroblastic anaemia
+∞
7.3
7
*
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
14.8
7.0
11
8
D50.8
ICD-10 Finland
Other iron deficiency anaemias
17.8
6.8
10
6
B80
ICPC
Iron deficiency anaemia
23.8
6.8
9
*
UJF30
NOMESCO Finland
Ileoscopy through colon
3.8
6.7
22
65
B03XA02
ATC
darbepoetin alfa; parenteral
13.1
6.7
11
9
E11.8
ICD-10 Finland
Type 2 diabetes mellitus, with unspecified complications
3.2
6.5
28
100
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
2.5
6.2
50
250
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
3.0
6.0
30
116

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
75
288
4.43
17.32
4.5
2.0
3.70
2.89
mg/l
1.72
68
245
26
88
3.40
6.52
18.5
5.0
11.45
11.04
mmol/l
0.08
26
83
30
112
3.13
6.43
5.2
3.4
7.37
7.39
ph
0.59
24
74
28
108
2.99
5.64
5.5
3.3
0.01
1.32
mmol/l
0.55
22
84
33
144
2.69
5.29
1.3
1.2
—
—
—
0
0
26
102
2.90
5.07
2.3
2.1
0.20
0.21
g/l
0.30
21
93
32
141
2.64
5.02
10.7
4.5
1.16
1.06
mmol/l
0.54
32
132
84
566
2.20
4.90
10.8
5.7
1.50
1.94
e9/l
2.30
79
496
18
59
3.35
4.71
5.5
3.3
22.47
23.78
mmol/l
0.65
18
59
60
362
2.14
4.56
10.1
4.9
—
—
—
0
0
37
184
2.37
4.47
3.5
2.7
0.80
0.81
mmol/l
0.19
37
171
81
553
2.09
4.40
10.6
5.7
0.62
0.60
e9/l
0.27
72
461
81
555
2.08
4.33
10.6
5.7
0.04
0.04
e9/l
0.50
72
462
83
575
2.08
4.30
11.5
5.7
0.18
0.18
e9/l
0.12
77
493
21
80
2.91
4.29
1.2
2.2
—
—
—
0
0
22
88
2.78
4.12
11.6
9.0
—
—
—
0
0
57
352
2.04
3.97
2.4
1.7
19.33
21.87
nmol/l
0.72
52
284
36
187
2.24
3.90
3.7
3.2
4.44
2.64
e6/l
0.55
29
98
75
517
1.96
3.77
11.8
5.8
60.15
58.68
%
0.40
69
483
82
589
1.94
3.59
11.6
6.3
1.20
1.21
mmol/l
0.77
74
503
27
131
2.31
3.40
4.0
3.5
4.11
5.97
e9/l
0.47
22
112
57
382
1.83
2.94
3.7
3.5
—
—
—
0
0
27
142
2.11
2.80
8.5
6.5
7.41
7.42
ph
0.38
18
81
7
14
5.20
2.76
1.3
1.4
—
—
—
0
0
68
491
1.74
2.67
19.6
11.6
0.00
0.01
e9/l
0.16
57
391
70
512
1.73
2.61
12.1
5.6
0.70
0.64
%
0.48
65
467
70
512
1.73
2.61
12.1
5.8
9.95
8.96
%
1.18
65
469
14
57
2.62
2.54
2.4
2.4
—
—
—
0
0
19
90
2.28
2.52
10.0
4.5
0.00
0.19
%
—
5
26
65
473
1.69
2.42
6.0
4.1
31.07
54.22
ng/l
1.21
54
348
23
121
2.08
2.38
1.7
1.7
—
—
—
0
0
69
512
1.68
2.38
12.0
5.6
2.81
2.69
%
0.19
64
469
42
272
1.77
2.36
3.7
3.0
354.30
350.65
umol/l
0.08
37
233
18
86
2.25
2.35
9.6
4.1
0.14
0.20
%
—
7
25
50
342
1.72
2.32
7.5
4.1
—
—
—
0
0
79
612
1.66
2.27
20.8
9.8
3.98
4.17
e9/l
0.34
72
527
70
526
1.66
2.27
2.7
2.1
93.91
99.44
pmol/l
0.43
41
261
5
9
5.71
2.23
2.0
1.0
—
—
—
0
0
6
14
4.42
2.17
1.2
1.9
—
—
—
0
0
0
56
0.00
2.12
0.0
1.3
—
—
—
0
0
49
342
1.66
2.08
16.8
6.3
—
—
—
0
0
51
360
1.65
2.07
8.7
4.0
7.40
7.39
ph
0.17
46
260
52
370
1.64
2.04
9.2
2.4
—
—
—
0
0
69
527
1.61
2.03
12.4
5.6
1.20
1.21
mmol/l
0.50
63
476
18
93
2.07
1.95
10.5
4.1
2.14
0.97
%
—
7
32
17
86
2.11
1.94
9.1
4.2
0.50
0.52
%
—
6
28
28
170
1.81
1.92
7.7
6.4
103.21
104.35
mmol/l
0.51
28
170
7
22
3.29
1.90
1.1
1.1
—
58.00
—
0
5
6
17
3.64
1.86
1.5
2.2
—
—
—
0
0
13
61
2.25
1.78
4.5
2.4
1.84
1.29
%
0.72
13
61
22
353
0.55
1.77
3.0
3.5
—
—
—
0
0
5
13
3.94
1.73
1.0
1.1
—
—
—
0
0
73
581
1.53
1.71
26.4
15.5
1.46
1.31
inr
1.14
64
467
50
367
1.56
1.68
2.8
2.0
162.64
190.55
u/l
0.33
45
344
7
25
2.89
1.67
1.1
1.2
0.22
0.24
g/l
—
7
25
7
25
2.89
1.67
1.1
1.3
1.06
1.16
g/l
—
7
25
5
14
3.66
1.63
1.0
1.7
—
—
nmol/l
—
0
0
5
14
3.66
1.63
1.0
1.6
0.14
0.17
nmol/l
—
5
7
100
858
1.57
1.62
15.7
7.5
83.83
79.50
u/l
0.50
95
796
7
26
2.78
1.60
1.1
1.1
—
—
—
0
0
15
79
2.01
1.56
3.6
2.8
7.39
7.42
ph
2.40
15
68
26
169
1.66
1.42
3.1
1.9
—
—
—
0
0
36
255
1.55
1.39
4.2
4.9
1.01
1.02
kg/l
1.46
27
175
6
23
2.68
1.38
1.8
3.0
14.05
15.73
%
—
6
23
52
401
1.47
1.35
4.9
3.2
25.28
66.97
e6/l
0.89
45
312
8
34
2.43
1.31
4.6
2.2
7.84
7.79
kpa
—
8
34
29
198
1.58
1.31
1.4
1.3
3.19
2.59
g/l
0.28
20
115
5
18
2.84
1.29
2.4
1.4
33.80
31.72
pg
—
5
18
8
36
2.29
1.26
1.0
1.2
—
—
—
0
0
6
25
2.46
1.25
2.0
1.2
—
—
—
0
0
8
37
2.23
1.23
2.0
2.8
3.44
1.76
ratio
—
8
16
16
94
1.79
1.23
1.8
1.5
—
—
—
0
0
5
19
2.69
1.22
2.0
1.2
—
—
—
0
0
12
64
1.96
1.22
1.3
1.7
2.09
1.76
g/l
0.11
12
56
8
39
2.11
1.17
2.0
3.0
93.70
33.14
mg/l
—
8
32
8
39
2.11
1.17
2.0
3.0
115.42
205.82
mg/l
—
8
32
19
120
1.67
1.16
1.8
1.5
—
—
—
0
0
53
422
1.41
1.13
4.4
4.0
—
—
—
0
0
5
21
2.43
1.10
1.8
1.7
61.20
57.19
%
—
5
21
15
90
1.75
1.09
1.9
3.2
1.23
1.23
mmol/l
0.09
15
77
31
226
1.48
1.05
1.2
1.3
0.84
1.38
u/ml
—
5
65
12
68
1.84
1.04
1.6
1.7
—
—
—
0
0
9
51
1.82
0.96
2.2
2.9
—
—
—
0
0
16
102
1.64
0.95
2.8
2.5
0.92
0.21
e6/l
0.63
16
97
35
267
1.41
0.94
8.4
1.6
1.27
1.52
mg/l
0.35
28
210
6
28
2.19
0.92
5.8
2.4
89.15
88.66
%
—
6
28
13
79
1.71
0.91
3.9
1.9
15.39
10.04
g/l
0.87
13
68
11
65
1.75
0.85
1.5
1.4
—
—
—
0
0
62
527
1.31
0.83
10.3
2.7
—
—
estimate
—
0
0
6
32
1.91
0.83
24.7
16.1
—
—
—
0
0
6
32
1.91
0.83
2.5
2.2
124.00
124.39
g/l
—
6
23
36
283
1.37
0.81
9.1
3.7
71.56
86.43
%
2.85
36
276
0
24
0.00
0.80
0.0
1.0
—
1.62
—
0
24
0
25
0.00
0.80
0.0
2.0
—
—
—
0
0
0
26
0.00
0.79
0.0
1.1
—
0.87
—
0
26
0
27
0.00
0.78
0.0
1.2
—
—
—
0
0
52
435
1.31
0.77
2.2
2.2
—
—
—
0
0
9
54
1.71
0.76
2.4
1.9
—
—
—
0
0
29
224
1.37
0.72
9.6
5.9
—
—
—
0
0
20
145
1.44
0.70
1.6
1.7
—
—
—
0
0
22
163
1.41
0.69
1.1
1.3
2.60
10.28
u/ml
—
9
58
8
49
1.67
0.63
2.9
2.0
24.61
24.92
mmol/l
—
8
49
81
734
1.24
0.59
6.7
5.0
—
5108.20
—
0
15
0
23
0.00
0.59
0.0
1.1
—
7.00
—
0
18
32
261
1.29
0.56
1.8
1.8
543.38
460.11
pmol/l
0.53
26
213
110
1035
1.29
0.56
37.8
16.8
24.84
25.77
mg/l
0.12
100
879
9
62
1.48
0.54
1.9
1.2
8666.78
925.25
u/ml
—
9
51
38
326
1.23
0.45
4.0
4.5
0.00
0.00
estimate
-0.00
14
102
6
91
0.64
0.44
1.8
1.7
—
—
—
0
0
8
57
1.43
0.43
8.0
3.7
37.00
36.98
°c
—
8
57
5
32
1.58
0.42
1.0
1.1
—
—
—
0
0
63
571
1.19
0.42
5.1
4.5
0.00
0.00
estimate
-0.00
18
114
103
977
1.20
0.39
7.4
6.9
40.55
39.81
mmol/mol
0.34
93
904
0
19
0.00
0.39
0.0
1.3
—
—
—
0
0
63
576
1.17
0.37
5.3
4.5
0.00
0.00
estimate
-0.00
18
118
13
99
1.34
0.37
1.5
1.5
—
—
—
0
0
5
78
0.63
0.36
6.4
5.4
24.92
24.38
mmol/l
—
5
72
63
581
1.15
0.32
5.3
4.6
0.00
0.00
estimate
-0.00
15
111
36
404
0.85
0.31
4.8
5.7
2.61
2.83
ug/l
0.08
31
355
16
130
1.26
0.30
1.3
1.4
—
—
—
0
0
7
56
1.26
0.30
1.6
3.1
0.83
0.88
%
—
7
49
7
57
1.24
0.29
3.9
3.5
3.56
4.34
pmol/l
—
7
49
8
65
1.24
0.27
14.2
6.0
15.36
15.24
%
—
8
60
14
114
1.25
0.26
4.9
3.2
7.39
7.34
ph
—
8
76
9
76
1.20
0.25
1.2
1.2
—
—
—
0
0
29
324
0.87
0.23
5.6
3.7
0.00
0.00
estimate
-0.00
12
92
5
40
1.26
0.22
2.0
2.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
48.51
—
0
11
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
3.55
—
0
7
0
12
0.00
0.21
0.0
1.0
—
1.42
—
0
6
108
1049
1.13
0.20
35.5
14.9
—
—
—
0
0
7
60
1.18
0.18
1.1
1.2
—
—
—
0
0
47
440
1.10
0.17
5.0
4.5
0.08
0.00
estimate
0.47
13
96
29
265
1.12
0.16
4.9
4.5
—
0.00
—
0
5
8
72
1.12
0.16
1.4
1.3
—
—
—
0
0
35
376
0.91
0.15
3.6
3.3
64.80
68.82
mg/l
0.03
26
246
82
792
1.08
0.15
4.1
4.2
14.79
14.98
pmol/l
0.25
76
707
98
1003
0.92
0.12
4.9
5.4
3.96
4.51
mmol/l
5.25
91
921
13
116
1.13
0.09
1.5
1.3
—
—
—
0
0
5
48
1.04
0.09
1.2
1.1
—
—
—
0
0
6
53
1.14
0.09
1.5
1.2
—
—
—
0
0
16
146
1.11
0.08
1.3
1.3
—
—
—
0
0
7
64
1.10
0.08
1.7
3.0
1.57
1.56
%
—
7
57
25
235
1.08
0.08
3.0
3.2
0.61
0.77
ug/l
0.66
15
167
98
997
0.94
0.08
4.9
5.3
1.39
1.47
mmol/l
0.94
89
914
40
386
1.05
0.06
3.7
3.2
7.40
7.39
mmol/l
0.01
35
322
47
458
1.04
0.04
4.5
4.0
6.63
6.26
ph
1.49
28
256
112
1109
1.05
0.04
60.6
25.6
90.41
91.52
fl
0.94
112
1093
112
1110
1.04
0.03
61.2
25.8
118.21
133.72
g/l
14.66
112
1092
112
1110
1.04
0.03
61.5
26.2
36.20
39.84
%
7.95
112
1093
112
1110
1.04
0.03
60.6
25.5
29.45
30.41
pg
3.10
112
1094
30
296
1.02
0.00
1.6
1.3
—
—
—
0
0
96
958
1.01
0.00
5.2
5.4
1.86
2.02
mu/l
0.72
89
862
96
958
1.01
0.00
4.2
4.5
1.19
1.26
mmol/l
0.57
86
870
39
391
1.00
0.00
4.0
4.0
8.51
11.78
mg/mmol
0.23
27
245
10
102
0.98
0.00
1.5
1.5
—
—
—
0
0
102
1016
1.01
0.00
5.3
6.3
2.19
2.59
mmol/l
5.05
94
935
101
1006
1.01
0.00
5.8
5.6
6.26
6.02
mmol/l
1.01
92
915
7
74
0.94
0.00
2.7
3.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
11.80
—
0
5
0
5
0.00
-0.00
0.0
3.2
—
27.80
—
0
5
0
7
0.00
-0.00
0.0
2.3
—
2.93
—
0
7
0
5
0.00
-0.00
0.0
2.6
—
10.60
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
1.66
—
0
5
0
8
0.00
-0.00
0.0
3.6
—
0.63
—
0
8
8
82
0.97
-0.00
4.4
4.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
89.27
—
0
7
0
6
0.00
-0.00
0.0
2.3
—
77.17
—
0
6
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
0.62
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
55.20
—
0
5
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
284.75
—
0
8
0
6
0.00
-0.00
0.0
3.0
—
3.00
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
11.15
—
0
8

Mortality – FinRegistry

Association

Association between endpoint D3_SIDEROANAMIEAOTHER and mortality.

Females

Parameter HR [95% CI] p-value
D3_SIDEROANAMIEAOTHER 2.545 [1.95, 3.32] < 0.001
Birth year 0.986 [0.98, 1.0] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 302 out of 565 females with D3_SIDEROANAMIEAOTHER died.

Males

Parameter HR [95% CI] p-value
D3_SIDEROANAMIEAOTHER 2.558 [1.77, 3.69] < 0.001
Birth year 0.992 [0.98, 1.0] 0.096

During the follow-up period (1.1.1998 — 31.12.2019), 213 out of 380 males with D3_SIDEROANAMIEAOTHER died.

Mortality risk

Mortality risk for people of age

years, who have D3_SIDEROANAMIEAOTHER.

N-year risk Females Males
1 0.199% 0.607%
5 1.237% 3.073%
10 2.959% 8.425%
15 5.515% 15.674%
20 9.1% 26.053%

Relationships between endpoints

Index endpoint: D3_SIDEROANAMIEAOTHER – Other sideroblastic anaemias

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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