Congenital malformations of trachea and bronchus

Q17_CONGEN_MALFO_TRACHEA_BRONCHUS

No definition available.

Endpoint definition

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Endpoint definition steps	FinnGen
Phenotype data	429209
1. Apply sex-specific rule None	429209
2. Check conditions None	429209
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.	271
4. Check minimum number of events None	271
5. Include endpoints None	271
6. Filter based on genotype QC (FinnGen only)	262

Control definitions (FinnGen only)

Control exclude Q17_CONGEN_MALFO_RESPI_SYSTEM

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

NAME	Q17_CONGEN_MALFO_TRACHEA_BRONCHUS
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_RESPI_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q32
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q32
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

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List of similar endpoints to Congenital malformations of trachea and bronchus based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

None

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-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

0.03

Only index persons

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	262	159	103
Unadjusted period prevalence (%)	0.06	0.07	0.06
Median age at first event (years)	59.63	58.63	61.17

-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
?

Hazard ratios

Measures the association between a covariate and the risk of death. Hazard ratios greater than 1 indicate that the covariate is associated with an increased risk of death whereas hazard ratios smaller than 1 indicate the opposite. Hazard ratios are presented with 95 % confidence intervals and p-values.

Mortality risk

Estimates the N-year risk of death for a person of a specific age having the endpoint. See Documentation for more details.

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Relationships between endpoints
?

Case overlap:

The overlap between the endpoint cases is shown for the whole FinRegistry (FR) data and FinnGen (FG) data. Please note, that these values are independent of the shown analysis results. The first (upper) value shows the number of cases having both endpoints. The second (lower) value shows the Jaccard index: (intersect of cases, i.e. the number of individuals having both endpoints) / (union of cases, i.e. the number of individuals having one or both of the endpoints) * 100.

Survival analysis:

Hazard ratios (HR) with 95% confidence intervals are shown for cases in the FinRegistry data where the onset of the selected endpoint occurred first. Results with statistically significant Bonferroni corrected p-values are indicated by . See Documentation for details.

Extremity box plot compares the hazard ratio (HR) for a single survival analysis with the distribution of HRs across all the survival analyses for the same disease endpoint.

This plot shows the distribution of binned HRs:

X axis: percentile distribution of HRs, from 0 to 1.

light-grey zone: 95% of all HRs are within this interval

grey zone: 50% of all HRs are within this interval

dark vertical line: median of HRs

black dot: HR for a specific survival analysis

If our endpoint of interest is A and we are interested in the survival analysis of A → B (solid dot), we compute the distribution of HRs of type → B. If the HR for A → B lies inside the distribution of HRs for * → B , this indicates a not too unsurprising association.

Genetic correlations:

rg shows the pairwise genetic correlation between the endpoints in FinnGen together with 95% confidence intervals. Genetic correlations are truncated to be between 1.0 and -1.0. Results with statistically significant p-values (threshold 1x10^-6) are indicated by *. Extremity box plot compares the genetic correlation (rg) for a single genetic correlation analysis with the distribution of rg's across all the genetic correlation analyses for the same disease endpoint.

Genetic signals:

Hits show the number of genome-wide significant hits and Coloc hits show the colocal genome-wide significant hits between the endpoints in the FinnGen data.

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Index endpoint: Q17_CONGEN_MALFO_TRACHEA_BRONCHUS – Congenital malformations of trachea and bronchus

GWS hits: -

Loading Relationships table

Congenital malformations of trachea and bronchus

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

Number of individuals

Period prevalence

Median age at first event

-FinnGen-

Key figures

-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

Hazard ratios

Mortality risk

Case overlap:

Survival analysis:

Genetic correlations:

Genetic signals: