This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Edwards' syndrome and Patau's syndrome
Q17_EDWAR_SYNDR_PATAU_SYNDR
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. |
38 |
4. Check minimum number of eventsNone |
38 |
5. Include endpointsNone |
38 |
6. Filter based on genotype QC (FinnGen only) |
38 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q9
- Name in latin
- Syndroma Edwards
Similar endpoints
↥List of similar endpoints to
Edwards' syndrome and Patau's syndrome
based on the number of shared cases.
Similar with more cases:
- Exclusion endpoint for clefts
- Chromosomal abnormalities, not elsewhere classified
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- 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 | 683 | 434 | 246 |
| Only index persons | 398 | 285 | 113 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 13.01 | 19.78 | 0.82 |
| Only index persons | 26.29 | 32.75 | 10.00 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 38 | 27 | 11 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | 34.59 | 34.87 | 33.92 |
-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 (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
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
8
24
3.94
2.33
6.6
5.8
—
—
—
0
0
(3019060) Gas panel - Arterial blood
5
10
5.56
2.14
18.2
5.6
—
—
—
0
0
(3014007) Fractional oxyhemoglobin in Arterial blood
5
10
5.56
2.14
18.6
7.6
%
94.4
95.7
—
5
10
(3007853) Bacteria identified in Skin by Aerobe culture
9
33
3.25
2.10
1.4
1.3
—
—
—
0
0
(3020891) Body temperature
5
11
5.05
2.00
20.8
7.9
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
8
29
3.21
1.92
1.1
1.3
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
7
23
3.49
1.90
1.1
1.9
—
—
—
0
0
(40761535) Cells panel - Urine sediment
6
20
3.36
1.65
5.8
4.0
—
—
—
0
0
(3003396) Base excess in Arterial blood by calculation
6
20
3.36
1.65
15.8
4.8
mmol/l
0.5
2.1
—
6
14
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
44
0.00
1.64
0.0
1.8
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
12
60
2.46
1.59
5.6
3.2
—
—
—
0
0
(3000991) Gas panel - Venous blood
6
26
2.55
1.24
11.2
5.4
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
35
0.00
1.22
0.0
1.6
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
7
31
2.53
1.18
2.3
1.5
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
8
41
2.20
1.17
1.5
1.3
—
—
—
0
0
(4010399)
0
25
0.00
0.82
0.0
1.4
—
—
—
0
0
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
7
41
1.86
0.75
3.4
3.1
ng/l
3649.7
1077.0
—
7
36
(3024354) Oxygen [Partial pressure] in Venous blood
5
26
2.06
0.73
8.8
7.7
kpa
5.1
5.4
—
5
26
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
10
64
1.76
0.66
2.7
2.0
—
—
—
0
0
(3012544) pH of Venous blood
5
29
1.83
0.66
13.2
7.0
—
—
—
0
0
(3021447) Carbon dioxide [Partial pressure] in Venous blood
5
29
1.83
0.66
13.2
7.0
kpa
5.7
5.8
—
5
29
(3016879) Cocaine [Presence] in Urine
0
19
0.00
0.62
0.0
1.6
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
9
61
1.62
0.60
1.9
1.4
—
—
—
0
0
(3013512) EKG study
9
63
1.56
0.58
3.7
2.7
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
13
95
1.56
0.53
5.2
2.8
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
10
69
1.61
0.50
6.2
3.7
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
7
49
1.52
0.49
2.1
3.1
s
29.4
29.7
—
7
49
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
8
55
1.57
0.47
1.3
1.4
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
0
15
0.00
0.42
0.0
2.1
—
—
—
0
0
(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method
0
15
0.00
0.42
0.0
1.5
—
3.7
—
0
8
(36304419) Bacteria [Presence] in Urine
11
81
1.50
0.42
3.6
2.2
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
16
0.00
0.42
0.0
1.6
—
178.1
—
0
10
(40768804) Tissue Pathology biopsy report
14
109
1.45
0.41
2.7
1.9
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
10
73
1.50
0.39
5.0
4.5
%
102.2
93.2
—
10
73
(3041096) Erythrocytes [Presence] in Urine by Automated
6
86
0.64
0.38
1.5
2.3
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
8
62
1.37
0.31
3.6
1.9
e6/l
5.2
6.2
—
8
56
(46235355) HIV 1 and 2 tests - Meaningful Use set
6
80
0.70
0.27
3.8
2.1
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
24
263
0.76
0.25
4.3
3.6
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
11
89
1.33
0.24
2.6
2.0
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
11
0.00
0.22
0.0
1.3
—
—
—
0
0
(3010130) Cytomegalovirus IgG Ab [Units/volume] in Serum or Plasma
0
11
0.00
0.22
0.0
1.2
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
11
0.00
0.22
0.0
1.1
—
—
—
0
0
(3034770) Mitochondria Ab [Titer] in Serum
0
11
0.00
0.22
0.0
1.4
—
—
—
0
0
(3007566) Smooth muscle Ab [Titer] in Serum
0
11
0.00
0.22
0.0
1.4
—
—
—
0
0
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
11
0.00
0.22
0.0
1.5
—
54.6
—
0
11
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
0
10
0.00
0.22
0.0
1.2
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
0
10
0.00
0.22
0.0
1.2
—
—
—
0
0
(3009041) Cardiolipin IgG Ab [Units/volume] in Serum by Immunoassay
0
10
0.00
0.22
0.0
1.1
—
4.0
—
0
5
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
0
10
0.00
0.22
0.0
2.5
—
—
—
0
0
(3028707) Methadone [Presence] in Urine by Screen method
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
(3026782) Osmolality of Urine
6
49
1.27
0.21
4.3
2.0
mosm/kgh2o
544.8
618.6
—
6
40
(1001926) Buprenorphine [Presence] in Urine by Screen method
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
10
120
0.77
0.20
1.6
2.5
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
33
316
1.34
0.18
15.9
11.8
umol/l
72.5
69.8
0.13
33
316
(40760892) CBC W Ordered Manual Differential panel - Blood
6
76
0.75
0.17
3.7
6.0
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
9
78
1.20
0.17
1.9
1.7
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
7
88
0.75
0.16
3.0
1.5
—
—
—
0
0
(3044889) 12 lead EKG panel
20
183
1.20
0.14
2.6
2.8
—
—
—
0
0
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
5
46
1.10
0.10
3.0
2.9
mmol/l
2.4
2.4
—
5
40
(42870588) Differential panel, method unspecified - Blood
10
112
0.85
0.08
5.4
7.1
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
6
72
0.80
0.08
3.7
1.7
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
13
119
1.14
0.07
5.0
3.0
—
—
—
0
0
(3015736) pH of Urine
11
119
0.89
0.04
5.9
3.1
—
—
—
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)
27
261
1.12
0.04
13.9
10.0
ml/min/173m2
89.5
89.7
0.02
22
206
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
28
278
1.03
0.00
3.4
3.4
mmol/l
5.6
5.6
0.00
28
258
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
14
137
1.03
0.00
3.8
3.5
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
21
208
1.02
0.00
4.5
3.4
—
—
—
0
0
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(44816844) Macroprolactin [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood
0
6
0.00
0.00
0.0
3.0
—
33.0
—
0
6
(40768441) Liver Pathology biopsy report
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
0
6
0.00
0.00
0.0
2.5
—
—
—
0
0
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
6
0.00
0.00
0.0
6.7
—
32.5
—
0
6
(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
0
9
0.00
0.00
0.0
3.1
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.0
—
6.3
—
0
5
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(44790047)
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
0
8
0.00
0.00
0.0
5.8
—
—
—
0
0
(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
7.6
—
0.6
—
0
5
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
(3045781) Inhibin B [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.2
—
141.8
—
0
5
(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay
0
7
0.00
0.00
0.0
1.1
—
86.4
—
0
7
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
3.4
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(44790049)
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(4268621)
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(3029634) Reagin Ab [Titer] in Serum by VDRL
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
(44806118)
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
7
73
0.95
0.00
4.1
2.2
—
—
—
0
0
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
9
96
0.92
0.00
1.7
4.3
u/l
33.2
28.8
—
9
91
(40758558) Short blood count panel - Blood
8
87
0.90
0.00
15.4
7.2
—
—
—
0
0
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay
0
8
0.00
0.00
0.0
1.1
—
107.3
—
0
8
(44790048)
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3006245) CD3-CD19+ cells/100 cells in Blood
0
7
0.00
0.00
0.0
3.0
—
6.1
—
0
7
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(4306422)
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.0
—
1.4
—
0
5
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_EDWAR_SYNDR_PATAU_SYNDR and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_EDWAR_SYNDR_PATAU_SYNDR | 8.794 [5.75, 13.44] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.085 |
During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 303 females with Q17_EDWAR_SYNDR_PATAU_SYNDR died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have Q17_EDWAR_SYNDR_PATAU_SYNDR.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.699% | No data |
| 5 | 3.929% | No data |
| 10 | 10.5% | No data |
| 15 | 20.078% | No data |
| 20 | 33.019% | No data |
Relationships between endpoints
↥Index endpoint: Q17_EDWAR_SYNDR_PATAU_SYNDR – Edwards' syndrome and Patau's syndrome
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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