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
*
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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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