No definition available.
Other specified congenital malformation syndromes affecting multiple systems
EFO MESH Endpoint Browser PheWeb
Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS
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. |
565 |
4. Check minimum number of eventsNone |
565 |
5. Include endpointsNone |
565 |
6. Filter based on genotype QC (FinnGen only) |
531 |
Control definitions (FinnGen only)
Control exclude
Q17_OTHER_CONGEN_MALFO
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q8
Name in latin
Alia syndromata malformationum congenitarum specificata, systemata multa afficientia
Similar endpoints
↥List of similar endpoints to
Other specified congenital malformation syndromes affecting multiple systems
based on the number of shared cases.
Similar with more cases:
- Exclusion endpoint for clefts
- Clefts and syndromes for tooth agenesis exclusion, including avohilmo
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 5896 | 2910 | 2971 |
| Only index persons | 4570 | 2275 | 2295 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.08 | 0.08 | 0.08 |
| Only index persons | 0.09 | 0.08 | 0.09 |
| Median age at first event (years) | |||
| Whole population | 7.85 | 8.55 | 7.03 |
| Only index persons | 11.81 | 12.91 | 10.72 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 531 | 289 | 242 |
| Unadjusted period prevalence (%) | 0.12 | 0.11 | 0.12 |
| Median age at first event (years) | 22.66 | 22.45 | 22.90 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS | 4.369 [3.04, 6.28] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.176 |
During the follow-up period (1.1.1998 — 31.12.2019), 139 out of 2512 females with Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS | 4.099 [3.26, 5.16] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 192 out of 2556 males with Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.44% | 0.835% |
| 5 | 2.571% | 4.97% |
| 10 | 6.367% | 12.307% |
| 15 | 11.887% | 21.957% |
| 20 | 20.333% | 34.286% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS – Other specified congenital malformation syndromes affecting multiple systems
GWS hits: 2
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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