obsolete_factor VIII deficiency: An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
99 |
4. Check minimum number of eventsNone |
99 |
5. Include endpointsNone |
99 |
6. Filter based on genotype QC (FinnGen only) |
99 |
Control definitions (FinnGen only)
- Control exclude
- D3_COAGDEF_PURPUR_HAEMORRHAGIC
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D65-D69
- Name in latin
- Deficientia hereditaria factoris VIII
Similar endpoints
↥List of similar endpoints to
Hereditary factor VIII deficiency
based on the number of shared cases.
Similar with more cases:
- Coagulation defects, purpura and other haemorrhagic conditions
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 723 | 205 | 511 |
| Only index persons | 586 | 187 | 399 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 19.22 | 36.79 | 11.69 |
| Only index persons | 19.32 | 35.25 | 11.86 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 99 | 40 | 59 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.03 |
| Median age at first event (years) | 23.18 | 34.20 | 15.71 |
-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
- 91
- Matched controls
- 909
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D66
ICD-10 Finland
Hereditary factor VIII deficiency
+∞
106.1
80
*
126
Kela drug reimbursment
Chronic coagulation defects
+∞
45.7
40
*
B02AA02
ATC
tranexamic acid; systemic
29.8
38.1
55
44
B02BD02
ATC
coagulation factor VIII; parenteral, topical, urethral
+∞
34.6
31
*
2860A
ICD-9 Finland
Coagulation defects, Congenital factor VIII disorder
+∞
22.9
21
*
28600
ICD-8 Finland
Coagulation defects, Haemophilia
+∞
19.5
18
*
M362, D66
ICD-10 Finland
NA
+∞
19.5
18
*
M36.2
ICD-10 Finland
Haemophilic arthropathy
+∞
13.9
13
*
D68.0
ICD-10 Finland
Von Willebrand disease
+∞
12.8
12
*
B18.2
ICD-10 Finland
Chronic viral hepatitis C
54.4
12.3
14
*
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
10.2
11.5
23
29
ZX120
NOMESCO Finland
Intravenous
8.2
11.2
26
42
M01AE01
ATC
ibuprofen; systemic, rectal
0.2
10.4
38
692
NC1AA
NOMESCO Finland
Elbow X-ray examination without contrast
23.2
10.2
14
7
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
10.6
9.9
19
22
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
24.9
9.7
13
6
D68.8
ICD-10 Finland
Other specified coagulation defects
+∞
9.5
9
*
TPX10
NOMESCO Finland
Implantation of vascular injection port
21.3
9.2
13
7
R04.0
ICD-10 Finland
Epistaxis
9.5
8.9
18
23
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
+∞
7.4
7
*
T81.0
ICD-10 Finland
Haemorrhage and haematoma complicating a procedure, not elsewhere classified
7.9
6.8
15
22
Z31.5
ICD-10 Finland
Genetic counselling
7.6
6.7
15
23
D67
ICD-10 Finland
Hereditary factor IX deficiency
+∞
6.3
6
*
D68.9
ICD-10 Finland
Coagulation defect, unspecified
+∞
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
38
23
26.19
47.86
9.8
8.3
3.0
3.3
g/l
0.50
38
23
55
96
11.64
34.78
9.6
4.6
36.6
30.2
s
3.89
55
96
47
143
5.35
15.32
8.0
2.5
0.8
0.8
mg/l
0.13
36
115
14
0
+∞
14.96
2.5
0.0
—
—
—
0
0
11
0
+∞
11.68
1.9
0.0
—
—
—
0
0
16
8
23.49
11.57
2.3
3.0
112.6
102.4
%
—
16
8
14
16
10.03
11.40
1.2
1.2
4.4
4.7
u/ml
—
8
9
13
15
9.83
10.47
1.2
1.2
1.8
1.1
u/ml
—
6
8
59
282
3.70
9.39
9.7
5.2
38.1
36.6
g/l
1.21
54
272
39
146
3.76
8.94
5.3
2.1
2.9
2.9
mg/l
0.02
34
133
60
322
3.19
7.35
8.0
8.1
1.2
1.2
mmol/l
0.09
45
277
54
286
2.95
6.56
7.0
8.4
1.2
1.2
mmol/l
0.13
49
258
10
15
7.30
6.44
1.2
1.0
—
—
—
0
0
71
448
3.07
6.07
10.1
11.4
3.9
4.0
e9/l
0.07
64
392
17
50
3.90
5.30
2.1
3.2
1.2
1.2
mmol/l
0.02
17
44
11
25
4.83
4.69
1.8
1.4
0.2
0.2
g/l
0.13
11
25
58
369
2.38
4.26
9.7
7.0
10.2
11.5
umol/l
0.76
58
356
11
28
4.29
4.10
1.8
1.4
1.0
1.1
g/l
0.66
11
28
30
158
2.29
3.27
5.8
2.3
—
—
—
0
0
51
342
2.01
2.93
6.6
4.2
—
—
—
0
0
7
13
5.70
2.92
1.4
2.4
—
—
—
0
0
38
250
1.84
2.17
6.5
3.1
—
—
—
0
0
8
26
3.25
2.06
1.1
1.3
—
—
—
0
0
90
801
2.36
1.88
18.8
11.6
21.9
21.6
mg/l
0.02
73
612
83
722
1.93
1.60
17.9
9.9
94.5
89.7
ml/min/173m2
1.10
72
582
5
15
3.45
1.54
1.6
2.3
0.2
0.1
e9/l
—
5
10
89
796
2.17
1.53
20.2
13.0
139.9
139.7
mmol/l
0.48
89
773
89
799
2.13
1.46
20.5
13.0
4.0
4.0
mmol/l
0.28
89
775
5
16
3.23
1.45
1.6
2.3
340.0
615.5
e6/l
—
5
10
6
23
2.71
1.39
1.5
2.1
—
—
—
0
0
5
21
2.45
1.10
1.8
1.7
—
—
—
0
0
18
119
1.63
0.96
1.4
1.2
37.9
2.5
u/ml
—
9
44
26
191
1.49
0.89
1.3
1.4
0.7
0.8
u/ml
—
7
66
29
219
1.46
0.87
2.6
2.9
48.4
56.3
u/l
1.50
29
209
6
31
1.99
0.86
1.5
1.4
—
—
—
0
0
5
25
2.05
0.74
3.4
18.3
23.8
24.4
mmol/l
—
5
25
13
85
1.61
0.73
14.0
8.4
1.1
1.1
mmol/l
0.13
13
79
25
194
1.39
0.64
1.6
1.6
—
—
—
0
0
5
30
1.70
0.62
1.4
1.3
—
—
—
0
0
12
81
1.55
0.60
3.2
2.0
322.9
368.6
nmol/l
0.36
12
74
9
59
1.58
0.57
3.3
2.5
—
—
—
0
0
24
190
1.35
0.55
3.5
3.4
0.0
0.0
estimate
0.49
15
72
9
63
1.47
0.54
4.9
7.3
—
—
—
0
0
9
65
1.42
0.52
2.6
2.3
32.1
27.4
u/l
—
9
53
6
92
0.63
0.45
1.3
1.6
—
—
—
0
0
29
243
1.27
0.45
2.2
1.8
98.4
94.0
pmol/l
0.23
19
123
0
18
0.00
0.40
0.0
1.3
—
8.1
—
0
11
69
729
0.82
0.33
3.9
3.7
6.4
5.9
mmol/l
1.13
64
677
16
129
1.29
0.33
1.3
1.2
11.2
14.5
iu/ml
—
5
36
5
38
1.33
0.23
2.4
1.6
26.8
33.6
nmol/l
—
5
38
0
11
0.00
0.21
0.0
3.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
7.5
—
0
5
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
6
48
1.27
0.20
1.5
1.5
33.9
15.4
iu/l
—
6
37
39
362
1.13
0.18
2.9
3.0
0.0
0.0
estimate
0.00
15
74
7
62
1.14
0.17
3.1
18.6
5.0
5.1
kpa
—
7
57
17
192
0.86
0.16
3.2
3.7
23.8
21.6
%
—
10
70
16
140
1.17
0.16
1.3
2.0
—
—
—
0
0
17
150
1.16
0.16
1.4
2.2
—
—
—
0
0
26
283
0.89
0.15
3.3
3.0
—
—
—
0
0
10
118
0.83
0.15
1.2
1.4
—
—
—
0
0
39
368
1.10
0.13
2.9
3.0
0.0
0.0
estimate
0.00
15
71
26
241
1.11
0.12
3.4
3.1
19.6
35.1
ng/l
0.50
15
143
5
44
1.14
0.10
9.2
9.4
22.1
24.6
mmol/l
—
5
44
5
45
1.12
0.10
2.6
1.4
—
—
—
0
0
6
71
0.84
0.08
6.8
3.8
30.2
30.0
%
—
6
48
10
110
0.90
0.05
2.3
1.4
—
—
—
0
0
63
640
0.96
0.03
3.8
3.4
—
—
—
0
0
37
362
1.04
0.02
3.8
4.1
0.0
0.0
estimate
0.00
14
75
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
3.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
7
78
0.89
0.00
2.7
1.4
—
—
—
0
0
5
59
0.84
0.00
1.2
1.9
—
—
—
0
0
7
77
0.90
0.00
1.4
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
43.3
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
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
8
0.00
0.00
0.0
1.0
—
—
—
0
0
7
75
0.93
0.00
2.4
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
1.4
—
—
—
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
7.8
—
35.8
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
—
—
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
Mortality – FinRegistry
↥Association
Association between endpoint D3_HEREDFVIIIDEF and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have D3_HEREDFVIIIDEF.| 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_HEREDFVIIIDEF – Hereditary factor VIII deficiency
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
Loading data