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 |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
37 |
4. Check minimum number of eventsNone |
37 |
5. Include endpointsNone |
37 |
6. Filter based on genotype QC (FinnGen only) |
37 |
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:
- Chromosomal abnormalities, not elsewhere classified
- Exclusion endpoint for clefts
- 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 | 37 | 26 | 11 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 35.14 | 35.65 | 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.
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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