Conotruncal defects

Q17_CONOTR_DEFEC

No definition available.

Endpoint definition

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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 — Q2000\|Q2001\|Q201\|Q202\|Q203\|Q2130\|Q2131\|Q2132\|Q2133\|Q214\|Q220\|Q221\|Q2571\|Q2573\|Q2578 Hospital discharge: ICD-9 — 7450A\|7450C\|7451B\|7451X\|7451A\|7452A\|7452B\|7452C\|7450B\|7460B\|7460C\|7473A Hospital discharge: excluded ICD-10 — Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875 Hospital discharge: excluded ICD-9 — 758\|7595\|75683 Cause of death: ICD-10 — Q2000\|Q2001\|Q201\|Q202\|Q203\|Q2130\|Q2131\|Q2132\|Q2133\|Q214\|Q220\|Q221\|Q2571\|Q2573\|Q2578 Cause of death: ICD-9 — 7450A\|7450C\|7451B\|7451X\|7451A\|7452A\|7452B\|7452C\|7450B\|7460B\|7460C\|7473A Cause of death: excluded ICD-10 — Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875 Cause of death: excluded ICD-9 — 758\|7595\|75683 2 out of 7 registries used, show all original rules.	466
4. Check minimum number of events None	466
5. Include endpoints None	466
6. Filter based on genotype QC (FinnGen only)	431

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 3

First used in FinnGen datafreeze DF7

NAME	Q17_CONOTR_DEFEC
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q2000\|Q2001\|Q201\|Q202\|Q203\|Q2130\|Q2131\|Q2132\|Q2133\|Q214\|Q220\|Q221\|Q2571\|Q2573\|Q2578
HD_ICD_9	7450A\|7450C\|7451B\|7451X\|7451A\|7452A\|7452B\|7452C\|7450B\|7460B\|7460C\|7473A
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL	Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875
HD_ICD_9_EXCL	758\|7595\|75683
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q2000\|Q2001\|Q201\|Q202\|Q203\|Q2130\|Q2131\|Q2132\|Q2133\|Q214\|Q220\|Q221\|Q2571\|Q2573\|Q2578
COD_ICD_9	7450A\|7450C\|7451B\|7451X\|7451A\|7452A\|7452B\|7452C\|7450B\|7460B\|7460C\|7473A
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL	Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875
COD_ICD_9_EXCL	758\|7595\|75683
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 Conotruncal defects based on the number of shared cases.

Similar with more cases:

Similar with less cases:

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	5696	2805	2877
Only index persons	3689	1836	1853
Unadjusted period prevalence (%)
Whole population	0.08	0.08	0.08
Only index persons	0.07	0.07	0.07
Median age at first event (years)
Whole population	0.60	0.54	0.45
Only index persons	2.47	3.18	1.78

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	431	208	223
Unadjusted period prevalence (%)	0.10	0.08	0.11
Median age at first event (years)	7.43	11.88	3.27

-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

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Association

Association between endpoint Q17_CONOTR_DEFEC and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_CONOTR_DEFEC	5.183 [3.58, 7.5]	< 0.001
Birth year	0.993 [0.98, 1.0]	0.185

During the follow-up period (1.1.1998 — 31.12.2019), 107 out of 1995 females with Q17_CONOTR_DEFEC died.

Males

Parameter	HR [95% CI]	p-value
Q17_CONOTR_DEFEC	5.139 [3.95, 6.69]	< 0.001
Birth year	0.987 [0.98, 1.0]	0.006

During the follow-up period (1.1.1998 — 31.12.2019), 145 out of 1886 males with Q17_CONOTR_DEFEC died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONOTR_DEFEC.

N-year risk	Females	Males
1	0.538%	0.792%
5	2.78%	5.754%
10	7.43%	14.799%
15	14.02%	25.698%
20	23.042%	39.601%

Relationships between endpoints

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Index endpoint: Q17_CONOTR_DEFEC – Conotruncal defects

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

Loading data

≡ Risteys

FG R11 + FR

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Conotruncal defects

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Conotruncal defects (Q17_CONOTR_DEFEC)

Summary Statistics

-FinRegistry-

Key figures

-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

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints