This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Other and unspecified thalassaemias
D3_THALASSAEMIANAS
No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
69 |
4. Check minimum number of eventsNone |
69 |
5. Include endpointsNone |
69 |
6. Filter based on genotype QC (FinnGen only) |
15 |
Control definitions (FinnGen only)
- Control exclude
- D3_HAEMOLYTICANAEMIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF6
Similar endpoints
↥List of similar endpoints to
Other and unspecified thalassaemias
based on the number of shared cases.
Similar with more cases:
- Thalassaemia
- Haemolytic 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:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1025 | 470 | 452 |
| Only index persons | 777 | 411 | 366 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 22.42 | 26.14 | 16.11 |
| Only index persons | 25.52 | 28.63 | 22.03 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 15 | 7 | 8 |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | 46.36 | 50.39 | 42.82 |
-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
Not a core endpoint, no data to show.
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
- 62
- Matched controls
- 620
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D56.99
ICD-10 Finland
Thalassaemia, unspecified
+∞
34.7
30
*
D56.91
ICD-10 Finland
Thalassemia minor
+∞
28.3
25
*
D56.1
ICD-10 Finland
Beta thalassaemia
+∞
15.2
14
*
D56.0
ICD-10 Finland
Alpha thalassaemia
+∞
12.9
12
*
D56.3
ICD-10 Finland
Thalassaemia trait
+∞
11.8
11
*
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
12.0
8.4
15
16
D56
ICD-10 Finland
Thalassaemia
+∞
7.4
7
*
D56.8
ICD-10 Finland
Other thalassaemias
+∞
7.4
7
*
D64.9
ICD-10 Finland
Anaemia, unspecified
8.6
7.0
15
22
O99.0
ICD-10 Finland
Anaemia complicating pregnancy, childbirth and the puerperium
25.9
6.9
9
*
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
+∞
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
19
57
4.36
6.03
2.2
1.5
1069.57
936.00
nmol/l
0.23
14
45
13
22
7.17
5.59
8.2
9.4
165.85
172.45
%
0.12
13
22
14
27
6.37
5.49
7.4
8.3
95.36
94.15
%
0.07
14
27
36
181
3.36
5.19
2.3
1.9
105.05
93.10
pmol/l
0.87
23
98
9
12
8.55
4.53
3.0
3.4
—
—
—
0
0
48
320
3.21
3.76
23.2
11.0
3.74
4.25
e9/l
0.86
37
277
11
26
4.91
3.72
1.5
2.0
—
—
—
0
0
31
172
2.60
3.35
6.2
4.3
25.16
30.71
u/l
0.94
31
163
25
130
2.55
3.03
11.8
2.7
—
—
—
0
0
21
102
2.60
2.90
5.6
3.4
1.02
1.02
mg/l
0.00
14
81
5
8
6.67
2.41
1.4
1.0
—
—
—
0
0
13
55
2.73
2.30
7.0
11.9
105.54
105.13
mmol/l
0.15
13
55
5
9
5.93
2.25
1.8
8.7
118.80
89.89
%
—
5
9
34
224
2.15
2.24
10.9
9.8
1.20
1.22
mmol/l
1.66
27
204
11
43
2.89
2.22
1.5
1.6
—
—
—
0
0
25
147
2.17
2.18
5.0
4.4
0.51
0.34
e6/l
0.21
19
108
11
46
2.69
1.98
18.8
16.3
24.45
25.75
mmol/l
0.70
11
46
17
90
2.22
1.88
3.2
2.0
—
—
—
0
0
13
61
2.43
1.87
3.1
1.9
—
—
—
0
0
35
246
1.97
1.81
9.9
3.0
—
—
estimate
—
0
0
13
62
2.39
1.81
3.2
1.9
—
—
—
0
0
5
15
3.53
1.55
3.2
1.2
—
—
—
0
0
7
28
2.69
1.50
1.1
1.3
—
—
—
0
0
18
108
1.94
1.42
4.3
3.6
1.22
18.33
mg/mmol
2.02
13
74
6
25
2.55
1.27
1.3
2.7
—
—
—
0
0
20
129
1.81
1.26
3.9
3.0
54.13
18.37
ng/l
0.44
13
75
5
19
2.77
1.24
4.8
1.7
—
—
—
0
0
7
32
2.33
1.12
1.6
1.4
—
—
—
0
0
5
21
2.50
1.11
4.2
1.7
—
—
—
0
0
5
22
2.38
1.05
1.4
2.9
254.00
136.00
u/ml
—
5
14
7
37
2.00
0.97
4.6
2.7
—
—
—
0
0
52
457
1.85
0.96
18.7
10.6
103.94
94.44
ml/min/173m2
2.25
47
407
8
45
1.89
0.88
2.8
6.1
—
—
—
0
0
57
525
2.06
0.87
24.0
13.5
21.44
22.36
mg/l
0.08
52
403
50
441
1.69
0.83
3.6
3.9
—
—
—
0
0
5
23
2.27
0.78
3.8
7.6
1.40
1.42
%
—
5
23
9
58
1.64
0.74
18.6
11.3
5.58
5.77
kpa
—
9
58
5
26
2.00
0.72
4.0
1.7
—
—
—
0
0
14
96
1.59
0.69
5.8
4.5
1.75
0.89
e6/l
—
8
56
7
44
1.66
0.67
23.6
12.4
23.57
24.60
mmol/l
—
7
44
5
30
1.72
0.63
2.2
1.8
—
—
—
0
0
13
90
1.56
0.61
6.0
4.6
1.14
3.36
e6/l
—
7
49
0
20
0.00
0.61
0.0
1.9
—
—
—
0
0
0
19
0.00
0.61
0.0
1.5
—
4.92
—
0
13
5
84
0.56
0.49
1.4
2.4
—
—
—
0
0
23
187
1.37
0.49
1.7
1.9
—
—
—
0
0
0
16
0.00
0.41
0.0
2.6
—
—
—
0
0
32
280
1.30
0.40
4.1
3.9
0.00
0.00
estimate
—
6
48
31
275
1.25
0.33
4.2
3.9
0.00
0.00
estimate
—
6
51
31
280
1.21
0.26
4.3
4.0
0.00
0.00
estimate
—
5
47
5
38
1.34
0.24
1.2
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
9.03
—
0
11
0
11
0.00
0.21
0.0
1.7
—
—
—
0
0
57
551
1.43
0.18
28.7
14.8
61.63
68.09
umol/l
2.21
57
543
7
88
0.77
0.15
3.3
4.3
1.39
1.87
ug/l
—
7
74
8
99
0.78
0.15
1.4
2.6
—
—
—
0
0
9
107
0.81
0.14
1.6
1.4
—
—
—
0
0
5
44
1.15
0.10
2.2
1.4
—
—
—
0
0
5
44
1.15
0.10
4.6
1.3
—
—
—
0
0
6
58
1.04
0.08
3.3
1.5
4.58
15.42
iu/l
—
6
50
17
159
1.10
0.06
2.1
2.8
—
—
—
0
0
15
141
1.08
0.04
3.2
2.8
0.00
0.00
estimate
—
5
39
15
141
1.08
0.04
2.1
2.7
—
—
—
0
0
15
144
1.05
0.00
2.9
3.3
0.00
0.02
estimate
—
6
46
48
479
1.01
0.00
4.6
4.3
2.43
2.77
mmol/l
2.47
43
454
19
192
0.98
0.00
3.3
3.4
0.00
0.00
estimate
—
5
39
0
9
0.00
-0.00
0.0
1.8
—
8.02
—
0
9
0
7
0.00
-0.00
0.0
1.0
—
—
—
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
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
8.7
—
13.70
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
13.00
—
0
6
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
5
51
0.98
-0.00
2.2
2.8
0.59
0.63
ug/l
—
5
33
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_THALASSAEMIANAS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have D3_THALASSAEMIANAS.| 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_THALASSAEMIANAS – Other and unspecified thalassaemias
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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