No definition available.
Congenital malformations of the respiratory system
EFO MESH Endpoint Browser PheWeb
Q17_CONGEN_MALFO_RESPI_SYSTEM
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. |
564 |
4. Check minimum number of eventsNone |
564 |
5. Include endpoints |
564 |
6. Filter based on genotype QC (FinnGen only) |
541 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
2
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q
Name in latin
Malformationes congenitae systematis respiratorii
Similar endpoints
↥List of similar endpoints to
Congenital malformations of the respiratory system
based on the number of shared cases.
Similar with more cases:
- 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 | 7047 | 3406 | 3623 |
| Only index persons | 4802 | 2461 | 2341 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.10 | 0.10 | 0.10 |
| Only index persons | 0.09 | 0.09 | 0.09 |
| Median age at first event (years) | |||
| Whole population | 10.90 | 21.32 | 0.82 |
| Only index persons | 30.26 | 46.96 | 12.69 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 541 | 318 | 223 |
| Unadjusted period prevalence (%) | 0.12 | 0.12 | 0.11 |
| Median age at first event (years) | 49.98 | 52.43 | 46.48 |
-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_CONGEN_MALFO_RESPI_SYSTEM and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_RESPI_SYSTEM | 1.645 [1.4, 1.93] | < 0.001 |
| Birth year | 0.998 [0.99, 1.01] | 0.609 |
During the follow-up period (1.1.1998 — 31.12.2019), 351 out of 2898 females with Q17_CONGEN_MALFO_RESPI_SYSTEM died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_RESPI_SYSTEM | 1.793 [1.51, 2.13] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.048 |
During the follow-up period (1.1.1998 — 31.12.2019), 306 out of 3120 males with Q17_CONGEN_MALFO_RESPI_SYSTEM died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_RESPI_SYSTEM.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.152% | 0.304% |
| 5 | 0.981% | 2.075% |
| 10 | 2.571% | 5.326% |
| 15 | 4.954% | 10.257% |
| 20 | 8.949% | 16.892% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_RESPI_SYSTEM – Congenital malformations of the respiratory system
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
Loading data