≡ Risteys
FG R11 + FR

Documentation Changelog GitHub Contact & Feedback

Other congenital malformations of the digestive system

DOID EFO Endpoint Browser PheWeb

Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1

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 — Q38-Q45
  • Cause of death: ICD-10 — Q38-Q45

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

1508

4. Check minimum number of events

None

1508

5. Include endpoints

1508

6. Filter based on genotype QC (FinnGen only)

1448

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 Aliae malformationes congenitae systematis digestorii

Similar endpoints

↥

List of similar endpoints to Other congenital malformations of the digestive system based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

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 34635 12697 21890
Only index persons 22487 8662 13825
Unadjusted period prevalence (%)
Whole population 0.52 0.36 0.61
Only index persons 0.45 0.32 0.53
Median age at first event (years)
Whole population 4.64 5.19 4.19
Only index persons 6.15 7.32 5.43

-FinnGen-

Key figures

All Female Male
Number of individuals 1448 792 656
Unadjusted period prevalence (%) 0.32 0.31 0.33
Median age at first event (years) 39.36 39.41 39.30

-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_OTHER_CONGEN_MALFO_DIGES_SYSTEM1 and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1 1.416 [1.22, 1.64] < 0.001
Birth year 0.995 [0.99, 1.0] 0.253

During the follow-up period (1.1.1998 — 31.12.2019), 639 out of 10892 females with Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1 died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1 1.635 [1.36, 1.97] < 0.001
Birth year 0.985 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 708 out of 19100 males with Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1 died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1.

N-year risk Females Males
1 0.119% 0.326%
5 0.74% 1.886%
10 1.92% 4.408%
15 3.899% 8.147%
20 7.066% 13.474%

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1 – Other congenital malformations of the digestive system

GWS hits: 7

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 spinner Loading data