Congenital malformations of trachea and bronchus

Q17_CONGEN_MALFO_TRACHEA_BRONCHUS

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q32
  • Cause of death: ICD-10 Q32

2 out of 7 registries used, show all original rules.

301

4. Check minimum number of events

None

301

5. Include endpoints

None

301

6. Filter based on genotype QC (FinnGen only)

292

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q3[0-4]
Name in latin Malformationes congenitae tracheae et bronchorum

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2594 1354 1230
Only index persons 2115 1173 942
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.03
Only index persons 0.04 0.04 0.04
Median age at first event (years)
Whole population 44.83 59.59 28.36
Only index persons 55.76 60.59 49.76

-FinnGen-

Key figures

All Female Male
Number of individuals 292 181 111
Unadjusted period prevalence (%) 0.07 0.07 0.06
Median age at first event (years) 60.23 59.65 61.17

-FinRegistry-

Age distribution of first events

01020304050607080900100200300400500600700800AgeIndividuals

-FinnGen-

Age distribution of first events

01030405060708005101520253035404550556065AgeIndividuals

-FinRegistry-

Year distribution of first events

197019751980198519901995200020052010201520202022050100150200250300350400450500550YearIndividuals

-FinnGen-

Year distribution of first events

1970197519801985199019952000200520102015202020230102030405060708090100YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

No data

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_TRACHEA_BRONCHUS and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_TRACHEA_BRONCHUS 1.555 [1.29, 1.87] < 0.001
Birth year 0.996 [0.99, 1.0] 0.321

During the follow-up period (1.1.1998 — 31.12.2019), 247 out of 1161 females with Q17_CONGEN_MALFO_TRACHEA_BRONCHUS died.

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_TRACHEA_BRONCHUS 1.684 [1.38, 2.06] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 213 out of 1065 males with Q17_CONGEN_MALFO_TRACHEA_BRONCHUS died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_TRACHEA_BRONCHUS.

N-year risk Females Males
1 0.15% 0.306%
5 1.047% 1.854%
10 2.408% 4.856%
15 4.395% 9.008%
20 7.683% 14.552%

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_TRACHEA_BRONCHUS – Congenital malformations of trachea and bronchus

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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