This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Von Hippel-Lindau syndrome
Q17_VON_HIPPEL
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. |
30 |
4. Check minimum number of eventsNone |
30 |
5. Include endpointsNone |
30 |
6. Filter based on genotype QC (FinnGen only) |
30 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Von Hippel-Lindau syndrome
based on the number of shared cases.
Similar with more cases:
- Phakomatoses, not elsewhere classified
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Factors influencing health status and contact with health services
- Any operation in hilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 30 | 17 | 13 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 36.36 | 45.33 | 24.64 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-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
(3010370) Gastrin [Moles/volume] in Serum or Plasma
6
0
+∞
6.46
3.5
0.0
pmol/l
22.3
—
—
6
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
24
106
7.28
5.59
3.8
4.4
—
—
—
0
0
(3018418) pH of Serum or Plasma
18
60
6.00
5.57
7.9
4.3
ph
7.4
7.4
—
6
9
(3044640) Blood type and Crossmatch panel - Blood
19
72
5.47
4.93
2.5
2.2
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
8
11
9.42
4.16
7.9
2.7
mmol/l
24.6
25.1
—
8
11
(3000991) Gas panel - Venous blood
8
12
8.61
3.97
6.9
3.8
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
16
61
4.48
3.92
2.9
2.8
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
17
68
4.46
3.91
12.4
7.8
inr
1.3
1.1
—
7
22
(4035726)
8
14
7.34
3.62
2.0
1.1
—
—
—
0
0
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
7
10
8.71
3.58
6.4
3.5
%
0.6
0.5
—
7
10
(3014007) Fractional oxyhemoglobin in Arterial blood
7
10
8.71
3.58
6.4
3.5
%
97.1
95.9
—
7
10
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
7
10
8.71
3.58
6.4
3.5
%
0.7
1.1
—
7
10
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
14
52
4.17
3.48
2.6
2.3
—
—
—
0
0
(3014576) Chloride [Moles/volume] in Serum or Plasma
9
20
5.94
3.44
3.2
3.3
mmol/l
105.6
103.1
—
9
20
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
16
71
3.69
3.01
3.6
2.7
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
13
53
3.56
2.73
4.0
3.5
estimate
0.0
0.0
—
5
18
(3023368) Bacteria identified in Blood by Culture
13
54
3.48
2.64
6.1
3.4
—
—
—
0
0
(3020779) Urea [Moles/volume] in Serum or Plasma
6
12
5.94
2.54
5.8
3.8
mmol/l
13.4
8.3
—
6
12
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
6
12
5.94
2.54
2.2
5.2
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
8
26
3.81
2.20
1.6
2.5
—
—
—
0
0
(3015736) pH of Urine
14
75
2.63
1.71
2.5
3.1
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
14
76
2.58
1.65
1.2
1.3
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
9
39
2.86
1.61
3.0
2.2
e6/l
2.4
3.3
—
9
34
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
5
18
3.12
1.34
5.4
3.8
—
—
—
0
0
(3044889) 12 lead EKG panel
21
150
2.33
1.27
4.6
3.1
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
5
19
2.94
1.27
1.2
1.5
—
—
—
0
0
(3004789) Transferrin [Mass/volume] in Serum or Plasma
6
26
2.62
1.25
3.3
1.6
g/l
2.1
2.5
—
6
26
(40768804) Tissue Pathology biopsy report
15
94
2.19
1.21
2.9
1.6
—
—
—
0
0
(3021960) Folate [Moles/volume] in Serum or Plasma
9
46
2.36
1.17
1.4
1.5
nmol/l
18.8
18.3
—
9
37
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
5
21
2.65
1.13
1.6
1.1
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
16
106
2.09
1.10
3.9
3.2
estimate
0.0
0.0
—
5
19
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
7
35
2.30
1.08
2.0
1.5
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
16
107
2.06
1.06
4.4
4.6
estimate
0.0
0.0
—
5
19
(3026008) Bacteria identified in Urine by Culture
10
56
2.18
1.03
3.2
2.8
—
—
—
0
0
(3022948) Iron [Moles/volume] in Serum or Plasma
6
27
2.52
1.00
2.8
1.7
umol/l
8.7
16.7
—
6
27
(3015377) Calcium [Moles/volume] in Serum or Plasma
12
74
2.04
0.97
2.6
2.7
mmol/l
2.3
2.4
0.66
12
66
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
15
102
1.94
0.91
2.9
2.1
nmol/l
76.1
78.2
0.14
15
86
(40768797) Stomach Pathology biopsy report
6
31
2.16
0.90
1.8
1.2
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
5
23
2.40
0.80
1.6
1.2
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
5
23
2.40
0.80
6.2
5.2
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
7
39
2.03
0.79
1.1
1.5
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
12
79
1.86
0.78
4.4
3.2
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
8
49
1.86
0.70
5.5
5.2
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
15
109
1.75
0.69
4.1
3.4
estimate
0.0
0.0
—
5
17
(40758558) Short blood count panel - Blood
8
52
1.73
0.66
6.8
7.4
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
7
48
1.60
0.51
1.6
1.6
—
—
—
0
0
(3013512) EKG study
7
50
1.52
0.49
3.1
3.4
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
7
50
1.52
0.49
3.6
3.7
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
9
64
1.58
0.45
1.7
1.9
—
—
—
0
0
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
16
191
0.65
0.45
4.1
2.8
u/l
57.1
40.0
0.56
16
184
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
0
15
0.00
0.42
0.0
1.1
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
0
17
0.00
0.42
0.0
1.5
—
—
—
0
0
(3035941) MCH [Entitic mass]
30
283
+∞
0.42
35.3
16.3
pg
30.1
30.2
0.13
30
277
(3024731) MCV [Entitic volume]
30
283
+∞
0.42
35.2
16.3
fl
90.1
90.2
0.03
30
277
(3000963) Hemoglobin [Mass/volume] in Blood
30
283
+∞
0.42
35.8
16.4
g/l
134.7
138.0
0.53
30
277
(3027008) Opiates [Presence] in Urine
0
18
0.00
0.41
0.0
1.4
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
0
18
0.00
0.41
0.0
1.4
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
0
18
0.00
0.41
0.0
1.4
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
0
18
0.00
0.41
0.0
1.4
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
18
151
1.48
0.38
4.3
4.1
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
8
60
1.45
0.32
4.3
2.5
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
0
11
0.00
0.22
0.0
1.2
—
—
—
0
0
(3024891) Influenza virus A+B Ag [Presence] in Specimen
0
11
0.00
0.22
0.0
1.1
—
—
—
0
0
(40768443) Skin Pathology biopsy report
0
11
0.00
0.22
0.0
1.2
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
0
13
0.00
0.21
0.0
2.5
—
—
—
0
0
(3008898) HLA-B27 [Presence]
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
0
14
0.00
0.20
0.0
1.9
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
5
45
1.13
0.10
1.6
2.2
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
7
81
0.82
0.08
3.0
2.7
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
20
190
1.16
0.06
2.8
3.3
—
—
—
0
0
(3013707) Erythrocyte sedimentation rate by Westergren method
17
175
0.93
0.00
4.3
3.5
mm/h
13.8
10.5
0.48
17
168
(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3002523) Influenza virus A Ag [Presence] in Specimen
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
7
71
0.98
0.00
9.9
5.2
—
—
—
0
0
(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
37.4
—
0
6
(3005033) Fetal Nuchal fold Thickness US
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3007566) Smooth muscle Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
10.4
—
0
6
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
0.0
—
0
6
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
8.9
—
0
6
(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
3.2
—
0
6
(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
4.4
—
0
6
(40768793) Breast Pathology biopsy report
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
5
48
1.05
0.00
2.2
2.3
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3003740) Influenza virus B Ag [Presence] in Specimen
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3034770) Mitochondria Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(4306422)
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
0.0
—
0
6
(3028707) Methadone [Presence] in Urine by Screen method
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
0.0
—
0
6
(3014051) Protein [Presence] in Urine by Test strip
0
9
0.00
0.00
0.0
1.9
—
—
—
0
0
(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis
0
6
0.00
0.00
0.0
1.0
—
0.0
—
0
6
(3049717) Cytology report of Urine Cyto stain
0
7
0.00
0.00
0.0
2.6
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
5
55
0.89
0.00
9.4
2.6
umol/l
462.2
323.2
—
5
49
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
5
48
1.05
0.00
5.6
2.8
ng/l
7590.4
685.9
—
5
39
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
6
60
1.00
0.00
1.2
1.6
—
—
—
0
0
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
4.1
—
17.4
—
0
8
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
0.9
—
0
5
(4268621)
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_VON_HIPPEL – Von Hippel-Lindau syndrome
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).