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. |
124 |
4. Check minimum number of eventsNone |
124 |
5. Include endpointsNone |
124 |
6. Filter based on genotype QC (FinnGen only) |
115 |
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 Down
Similar endpoints
↥List of similar endpoints to
Down's syndrome
based on the number of shared cases.
Similar with more cases:
- Chromosomal abnormalities, not elsewhere classified
- Clefts and syndromes for tooth agenesis exclusion, including avohilmo
- Congenital malformations, deformations and chromosomal abnormalities
- 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 | 4904 | 2480 | 2418 |
| Only index persons | 3840 | 1967 | 1873 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.07 | 0.07 | 0.07 |
| Only index persons | 0.07 | 0.07 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 24.93 | 28.56 | 21.16 |
| Only index persons | 28.20 | 30.99 | 25.27 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 115 | 67 | 48 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 27.76 | 33.28 | 20.05 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint Q17_DOWNS_SYNDR and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_DOWNS_SYNDR | 22.482 [18.61, 27.16] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.401 |
During the follow-up period (1.1.1998 — 31.12.2019), 431 out of 2003 females with Q17_DOWNS_SYNDR died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_DOWNS_SYNDR | 13.673 [11.73, 15.94] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.005 |
During the follow-up period (1.1.1998 — 31.12.2019), 435 out of 1936 males with Q17_DOWNS_SYNDR died.
Mortality risk
Mortality risk for people of age
years, who have Q17_DOWNS_SYNDR.| N-year risk | Females | Males |
|---|---|---|
| 1 | 2.285% | 2.585% |
| 5 | 13.214% | 14.193% |
| 10 | 29.186% | 33.047% |
| 15 | 48.666% | 52.566% |
| 20 | 69.195% | 72.468% |
Relationships between endpoints
↥Index endpoint: Q17_DOWNS_SYNDR – Down'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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