anemia (phenotype): ['A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.']
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. |
109 |
4. Check minimum number of eventsNone |
109 |
5. Include endpointsNone |
109 |
6. Filter based on genotype QC (FinnGen only) |
108 |
Control definitions (FinnGen only)
- Control exclude
- D3_APLASTICANDOTHANAEMIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Secondary sideroblastic anaemia
based on the number of shared cases.
Similar with more cases:
- Other anaemias
- Aplastic and other anaemias
- Anaemias
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- 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 | 1282 | 722 | 533 |
| Only index persons | 764 | 448 | 316 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.01 |
| Only index persons | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 73.93 | 74.43 | 73.16 |
| Only index persons | 71.08 | 70.32 | 72.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 108 | 58 | 50 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 68.81 | 65.01 | 73.22 |
-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
- 109
- Matched controls
- 1090
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D64.9
ICD-10 Finland
Anaemia, unspecified
70.6
101.9
62
20
D64.1
ICD-10 Finland
Secondary sideroblastic anaemia due to disease
+∞
99.9
80
*
D64.2
ICD-10 Finland
Secondary sideroblastic anaemia due to drugs and toxins
+∞
30.7
28
*
B03XA02
ATC
darbepoetin alfa; parenteral
26.8
14.9
20
9
ZX120
NOMESCO Finland
Intravenous
6.1
14.3
30
64
A49.9
ICD-10 Finland
Bacterial infection, unspecified
5.8
13.9
31
70
A04AA01
ATC
ondansetron; systemic, rectal
6.8
13.8
25
46
WW500
NOMESCO Finland
Blood transfusion
13.3
11.6
20
18
128
Kela drug reimbursment
Cancers of female genital organs
28.6
11.5
15
6
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
6.1
10.3
20
39
L03AA02
ATC
filgrastim; parenteral
14.1
10.3
17
14
XW000
NOMESCO Finland
Bone marrow biopsy
15.4
10.0
16
12
D46.1
ICD-10 Finland
Refractory anaemia with ring sideroblasts
+∞
9.5
9
*
UJF32
NOMESCO Finland
Coloscopy
3.6
9.2
45
180
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.4
8.7
48
206
Z48.0
ICD-10 Finland
Attention to surgical dressings and sutures
16.6
7.9
12
8
D39.10
ICD-10 Finland
Tumor of uncertain or unknown nature in the ovary without histology
20.2
7.8
11
6
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
17.3
7.4
11
7
Z51.5
ICD-10 Finland
Palliative care
4.3
7.3
21
57
L03AA13
ATC
pegfilgrastim; parenteral
8.0
7.3
16
23
C56.71
ICD-10 Finland
Serous epithelial malignant tumor of the ovary
32.4
7.3
9
*
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
11.2
7.3
13
13
C03CA01
ATC
furosemide; systemic
2.9
7.1
58
305
A04AA55
ATC
palonosetron, combinations; systemic
8.7
6.9
14
18
D46.9
ICD-10 Finland
Myelodysplastic syndrome, unspecified
42.8
6.9
8
*
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
5.9
6.7
18
35
C56
ICD-10 Finland
Malignant neoplasm of ovary
74.0
6.5
7
*
SPAT1088
SPAT
Blood transfusion
74.0
6.5
7
*
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
+∞
6.3
6
*
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
7.5
6.3
14
21
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.8
6.1
21
65
R18
ICD-10 Finland
Ascites
16.2
6.0
9
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
29
118
2.99
5.45
3.3
2.9
0.83
0.82
mmol/l
0.19
29
108
38
185
2.62
5.06
2.6
1.7
3.24
2.94
mg/l
0.37
33
156
16
47
3.82
4.97
1.6
1.2
—
—
—
0
0
10
14
7.74
4.77
2.1
1.4
—
—
—
0
0
58
380
2.12
3.65
13.7
16.3
1.25
1.31
inr
0.24
18
109
22
97
2.59
3.48
1.4
1.3
—
—
—
0
0
16
61
2.90
3.31
2.2
1.4
—
—
—
0
0
45
279
2.04
3.18
4.2
3.0
—
—
—
0
0
6
8
7.85
3.09
1.3
1.1
70.28
12.64
u/l
—
6
8
12
37
3.51
3.05
5.2
6.0
24.95
24.68
mmol/l
0.10
12
37
8
17
4.99
2.98
1.5
1.1
—
—
—
0
0
50
337
1.89
2.68
7.7
2.3
—
—
—
0
0
23
118
2.20
2.60
4.1
2.5
5.14
2.64
e6/l
0.59
18
68
18
88
2.25
2.27
8.3
6.9
1.73
1.41
mmol/l
0.07
13
66
46
315
1.80
2.26
2.5
1.9
96.33
98.41
pmol/l
0.08
28
159
44
298
1.80
2.24
4.4
4.4
—
—
—
0
0
27
165
1.85
1.88
6.7
2.1
—
—
—
0
0
5
13
3.98
1.73
2.0
1.3
—
—
—
0
0
5
13
3.98
1.73
1.2
1.5
—
—
—
0
0
5
13
3.98
1.73
2.0
1.3
—
—
—
0
0
7
157
0.41
1.73
4.4
2.9
2.45
2.46
mmol/l
—
7
137
10
44
2.40
1.60
5.0
3.0
112.20
126.27
g/l
—
10
44
44
322
1.61
1.59
4.9
4.0
61.52
30.28
ng/l
0.43
35
233
9
38
2.49
1.49
2.3
3.3
3.93
4.63
pmol/l
—
9
32
9
38
2.49
1.49
4.0
2.6
0.91
1.17
%
—
9
38
59
468
1.57
1.49
7.1
4.1
7.35
6.73
mmol/l
0.45
53
427
31
214
1.63
1.39
5.1
4.2
0.00
0.00
estimate
—
10
66
5
17
3.03
1.37
1.2
2.2
—
—
—
0
0
8
36
2.32
1.27
4.8
3.1
21.59
23.71
mmol/l
—
8
36
6
26
2.38
1.20
2.3
2.1
—
—
—
0
0
5
20
2.57
1.16
2.0
1.2
—
—
—
0
0
48
380
1.47
1.14
4.5
4.1
0.00
0.00
estimate
-0.00
12
75
48
380
1.47
1.14
5.7
5.7
0.00
0.00
estimate
—
8
68
48
382
1.46
1.11
4.6
4.2
0.00
0.00
estimate
—
10
65
5
21
2.44
1.10
1.2
1.4
—
—
—
0
0
5
21
2.44
1.10
2.0
1.2
—
—
—
0
0
5
21
2.44
1.10
1.0
1.3
—
—
—
0
0
12
181
0.62
0.78
4.9
4.6
28.42
21.18
%
—
5
96
63
704
0.75
0.72
3.5
4.5
1.50
1.49
mmol/l
0.07
58
637
0
21
0.00
0.60
0.0
1.6
—
—
—
0
0
6
35
1.75
0.59
2.3
1.7
1.42
1.36
ug/l
—
6
30
6
37
1.66
0.56
1.0
1.1
—
—
—
0
0
17
126
1.41
0.56
3.8
1.7
—
—
—
0
0
67
729
0.79
0.52
4.1
5.1
2.52
2.66
mmol/l
0.64
61
656
66
719
0.79
0.52
4.2
4.8
6.04
5.97
mmol/l
0.14
59
647
5
35
1.45
0.40
2.2
1.7
—
—
—
0
0
19
153
1.29
0.39
1.1
1.2
3.16
1.34
u/ml
—
8
32
11
81
1.40
0.38
4.7
1.7
—
—
—
0
0
6
42
1.45
0.36
3.5
4.0
4.12
1.61
mmol/l
—
6
31
6
44
1.38
0.35
2.5
1.7
—
—
—
0
0
6
45
1.35
0.34
2.3
1.6
—
—
—
0
0
78
816
0.84
0.28
53.7
21.3
34.30
39.61
%
6.72
73
759
5
39
1.30
0.23
2.4
1.5
—
—
—
0
0
75
781
0.87
0.22
44.2
17.4
94.20
79.36
umol/l
0.99
75
781
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
3.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.7
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
13
108
1.23
0.21
1.8
1.4
—
—
—
0
0
12
99
1.24
0.20
8.6
6.0
102.42
104.45
mmol/l
0.62
12
99
7
58
1.22
0.18
2.7
4.1
1.18
1.21
mmol/l
—
7
50
9
79
1.15
0.16
5.8
3.4
—
—
—
0
0
39
414
0.91
0.14
3.6
2.7
—
—
—
0
0
25
231
1.11
0.12
2.8
3.6
52.48
8.53
mg/mmol
0.55
19
143
77
750
1.09
0.11
35.8
14.9
24.62
23.54
mg/l
0.12
72
605
69
707
0.93
0.08
34.2
14.0
74.03
76.12
ml/min/173m2
0.30
61
564
9
84
1.08
0.07
5.4
1.7
—
—
—
0
0
8
93
0.85
0.07
22.6
9.5
—
—
—
0
0
12
118
1.02
0.00
4.0
2.4
0.79
0.62
e6/l
—
7
69
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
10.87
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
18.61
—
0
8
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
58.00
—
0
5
Mortality – FinRegistry
↥Association
Association between endpoint D3_SIDEROANASCND and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SIDEROANASCND | 3.542 [2.71, 4.64] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.186 |
During the follow-up period (1.1.1998 — 31.12.2019), 412 out of 577 females with D3_SIDEROANASCND died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SIDEROANASCND | 3.319 [2.26, 4.86] | < 0.001 |
| Birth year | 0.983 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 305 out of 410 males with D3_SIDEROANASCND died.
Mortality risk
Mortality risk for people of age
years, who have D3_SIDEROANASCND.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.2% | 0.499% |
| 5 | 2.037% | 3.407% |
| 10 | 5.222% | 7.914% |
| 15 | 9.388% | 15.3% |
| 20 | 16.198% | 24.868% |
Relationships between endpoints
↥Index endpoint: D3_SIDEROANASCND – Secondary sideroblastic anaemia
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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