This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Hereditary factor IX deficiency
D3_HEREDFIXDEF
No definition available.
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. |
23 |
4. Check minimum number of eventsNone |
23 |
5. Include endpointsNone |
23 |
6. Filter based on genotype QC (FinnGen only) |
23 |
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 IX
Similar endpoints
↥List of similar endpoints to
Hereditary factor IX 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 operation in hilmo
- 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 | 231 | 76 | 154 |
| Only index persons | 190 | 66 | 124 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.00 | 0.00 |
| Only index persons | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 24.01 | 38.23 | 16.94 |
| Only index persons | 21.54 | 34.28 | 14.76 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 23 | 10 | 13 |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | 0.01 |
| Median age at first event (years) | 23.86 | 30.59 | 18.68 |
-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
No data
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
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.
No data available
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3006109) Coagulation factor IX activity actual/normal in Platelet poor plasma by Coagulation assay
12
0
+∞
13.91
12.6
0.0
%
43.8
—
—
12
0
(3036035) von Willebrand factor (vWf) Ag actual/normal in Platelet poor plasma by Immunoassay
7
0
+∞
7.69
2.4
0.0
%
146.4
—
—
7
0
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
10
6
27.70
7.56
6.4
10.8
%
100.4
71.8
—
10
6
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
10
6
27.70
7.56
6.3
10.8
g/l
3.7
3.4
—
10
6
(3018677) aPTT in Platelet poor plasma by Coagulation assay
12
22
10.31
7.16
6.6
4.3
s
38.6
29.5
1.15
12
22
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
10
24
6.60
4.40
2.6
3.0
%
21.1
21.1
—
10
18
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
11
35
5.11
3.47
1.7
3.1
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
10
31
4.94
3.21
3.4
5.2
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
15
69
4.35
2.75
4.7
6.4
—
—
—
0
0
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
9
29
4.42
2.58
6.0
3.3
mmol/l
2.5
2.4
—
9
22
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
15
75
3.85
2.56
4.7
14.2
mmol/l
1.2
1.2
0.20
15
69
(3044640) Blood type and Crossmatch panel - Blood
12
52
3.73
2.37
2.4
2.8
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
12
52
3.73
2.37
1.0
1.4
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
14
71
3.46
2.27
5.4
7.6
—
—
—
0
0
(4035726)
5
11
5.47
2.05
2.0
1.2
—
—
—
0
0
(3014576) Chloride [Moles/volume] in Serum or Plasma
5
16
3.69
1.52
4.8
16.3
mmol/l
107.0
105.2
—
5
16
(36304419) Bacteria [Presence] in Urine
10
53
2.57
1.25
4.7
3.2
—
—
—
0
0
(3000991) Gas panel - Venous blood
5
20
2.90
1.22
4.4
12.5
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
11
63
2.43
1.16
4.8
4.1
—
—
—
0
0
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
17
122
2.50
1.11
15.1
8.3
u/l
84.1
92.9
0.53
17
117
(3012544) pH of Venous blood
5
22
2.61
1.09
2.4
10.1
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
8
44
2.25
0.99
7.8
6.9
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
7
39
2.13
0.82
2.4
3.4
umol/l
321.1
351.8
—
7
33
(3000850) Epithelial cells [#/volume] in Urine
7
40
2.07
0.81
4.9
2.9
e6/l
1.5
6.7
—
7
34
(3026008) Bacteria identified in Urine by Culture
7
42
1.95
0.77
4.3
3.1
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
5
26
2.17
0.76
2.4
2.1
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
13
91
1.99
0.75
13.6
11.9
mmol/l
6.8
6.7
0.09
13
86
(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma
0
19
0.00
0.63
0.0
3.4
—
35.6
—
0
13
(21494755) Public health laboratory ask at order entry panel
0
22
0.00
0.63
0.0
1.4
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
6
38
1.78
0.60
2.5
4.9
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
0
15
0.00
0.43
0.0
1.0
—
—
—
0
0
(3013707) Erythrocyte sedimentation rate by Westergren method
16
133
1.66
0.43
4.1
4.7
mm/h
9.2
9.7
0.08
16
123
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
7
51
1.53
0.36
1.9
2.0
mmol/l
1.3
1.4
—
7
44
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
16
176
0.70
0.35
6.1
4.0
mmol/l
2.9
2.8
0.51
16
167
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
8
61
1.48
0.34
6.0
4.8
—
—
—
0
0
(40758558) Short blood count panel - Blood
8
61
1.48
0.34
10.1
5.2
—
—
—
0
0
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
10
80
1.44
0.26
2.1
2.7
nmol/l
85.7
74.1
—
10
72
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
11
0.00
0.22
0.0
1.7
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
0
11
0.00
0.22
0.0
1.1
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
11
0.00
0.22
0.0
1.3
—
—
—
0
0
(3008152) Bicarbonate [Moles/volume] in Arterial blood
0
10
0.00
0.22
0.0
51.5
—
23.5
—
0
10
(3027944) Amphetamines [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(1002224) Polysomnography panel
0
10
0.00
0.22
0.0
1.0
—
—
—
0
0
(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.22
0.0
1.8
—
—
—
0
0
(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3019060) Gas panel - Arterial blood
0
12
0.00
0.22
0.0
41.9
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
16
174
0.74
0.21
5.8
3.8
mmol/l
4.6
4.6
0.16
16
167
(3013139) Helicobacter pylori Ag [Presence] in Stool
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
16
173
0.75
0.21
5.6
3.7
mmol/l
1.3
1.4
0.70
16
165
(4010399)
0
14
0.00
0.21
0.0
1.5
—
—
—
0
0
(3015736) pH of Urine
8
66
1.32
0.20
4.4
4.9
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
17
156
1.34
0.19
19.2
11.1
ml/min/173m2
86.7
86.5
0.01
17
126
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
14
150
0.83
0.18
3.8
3.7
—
—
—
0
0
(3013512) EKG study
5
44
1.17
0.11
4.6
4.2
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
5
47
1.08
0.10
2.2
4.1
ug/l
3.3
1.6
—
5
42
(40768804) Tissue Pathology biopsy report
7
64
1.13
0.09
3.7
1.9
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
16
164
0.92
0.09
4.6
3.7
mmol/l
1.5
1.2
0.94
16
159
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
15
157
0.87
0.09
5.6
4.6
mmol/mol
39.7
39.2
0.05
15
150
(3044889) 12 lead EKG panel
12
112
1.15
0.04
3.1
3.4
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
70.5
—
0
6
(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3010421) pH of Blood
0
5
0.00
0.00
0.0
2.2
—
7.4
—
0
5
(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018405) Lactate [Moles/volume] in Arterial blood
0
5
0.00
0.00
0.0
2.6
—
1.3
—
0
5
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
0
6
0.00
0.00
0.0
2.5
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
7
0.00
0.00
0.0
3.0
—
—
—
0
0
(1616796) Gas panel - Central venous blood
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3029634) Reagin Ab [Titer] in Serum by VDRL
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3007930) Methemoglobin/Hemoglobin.total in Blood
0
6
0.00
0.00
0.0
81.5
—
1.1
—
0
6
(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3020630) Protein [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.1
—
65.4
—
0
7
(3037467) Urinalysis macro (dipstick) panel - Urine
12
120
1.00
0.00
6.4
3.9
—
—
—
0
0
(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3043409) Potassium [Moles/volume] in Arterial blood
0
5
0.00
0.00
0.0
2.4
—
4.3
—
0
5
(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood
0
6
0.00
0.00
0.0
81.5
—
2.0
—
0
6
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3028707) Methadone [Presence] in Urine by Screen method
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027315) Oxygen [Partial pressure] in Blood
0
5
0.00
0.00
0.0
1.8
—
7.3
—
0
5
(3011288) Drugs identified in Urine by Screen method
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
2.7
—
—
—
0
0
(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
2.6
—
120.8
—
0
8
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
(3013290) Carbon dioxide [Partial pressure] in Blood
0
5
0.00
0.00
0.0
1.8
—
4.6
—
0
5
(3012110) Lysozyme [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.6
—
8.6
—
0
5
(1761868) Lipid panel - Serum or Plasma
6
67
0.86
0.00
1.5
2.6
—
—
—
0
0
(3020891) Body temperature
0
8
0.00
0.00
0.0
6.1
—
—
—
0
0
(3015235) Bicarbonate [Moles/volume] in Capillary blood
0
6
0.00
0.00
0.0
1.2
—
24.5
—
0
6
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation
0
7
0.00
0.00
0.0
1.7
—
203.7
—
0
7
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(42529215) Follitropin [Units/volume] in Serum or Plasma by Immunoassay
0
5
0.00
0.00
0.0
1.6
—
26.8
—
0
5
Mortality – FinRegistry
↥Association
Association between endpoint D3_HEREDFIXDEF and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have D3_HEREDFIXDEF.| 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_HEREDFIXDEF – Hereditary factor IX 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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