Septal defects

Q17_SEPTA_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 — Q21.0, Q21.10, Q21.11, Q21.12, Q21.13, Q21.18, Q21.19, Q21.88, Q21.9 Hospital discharge: ICD-9 — 7454E\|7454X\|7454A\|7455A\|7456X\|7456A\|7458X\|7459X 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 — Q21.0, Q21.10, Q21.11, Q21.12, Q21.13, Q21.18, Q21.19, Q21.88, Q21.9 Cause of death: ICD-9 — 7454E\|7454X\|7454A\|7455A\|7456X\|7456A\|7458X\|7459X 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.	2281
4. Check minimum number of events None	2281
5. Include endpoints None	2281
6. Filter based on genotype QC (FinnGen only)	2184

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_SEPTA_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	Q2100\|Q2108\|Q2109\|Q2110\|Q2111\|Q2112\|Q2113\|Q2118\|Q2119\|Q2188\|Q219
HD_ICD_9	7454E\|7454X\|7454A\|7455A\|7456X\|7456A\|7458X\|7459X
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	Q2100\|Q2108\|Q2109\|Q2110\|Q2111\|Q2112\|Q2113\|Q2118\|Q2119\|Q2188\|Q219
COD_ICD_9	7454E\|7454X\|7454A\|7455A\|7456X\|7456A\|7458X\|7459X
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 Septal 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	37758	20128	17561
Only index persons	24425	13039	11386
Unadjusted period prevalence (%)
Whole population	0.54	0.58	0.49
Only index persons	0.46	0.48	0.43
Median age at first event (years)
Whole population	0.53	0.50	0.42
Only index persons	3.90	4.73	2.96

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	2184	1305	879
Unadjusted period prevalence (%)	0.48	0.51	0.44
Median age at first event (years)	38.17	35.06	42.79

-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

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Association

Association between endpoint Q17_SEPTA_DEFEC and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_SEPTA_DEFEC	1.871 [1.6, 2.18]	< 0.001
Birth year	0.988 [0.98, 1.0]	0.008

During the follow-up period (1.1.1998 — 31.12.2019), 678 out of 17245 females with Q17_SEPTA_DEFEC died.

Males

Parameter	HR [95% CI]	p-value
Q17_SEPTA_DEFEC	1.71 [1.44, 2.03]	< 0.001
Birth year	0.981 [0.97, 0.99]	< 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 575 out of 15035 males with Q17_SEPTA_DEFEC died.

Mortality risk

Mortality risk for people of age

years, who have Q17_SEPTA_DEFEC.

N-year risk	Females	Males
1	0.134%	0.217%
5	0.916%	1.639%
10	2.426%	4.085%
15	4.574%	7.915%
20	7.682%	12.977%

Relationships between endpoints

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Index endpoint: Q17_SEPTA_DEFEC – Septal defects

GWS hits: 5

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

Septal 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 Septal defects (Q17_SEPTA_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