Other congenital malformations of upper alimentary tract

Q17_OTHER_CONGEN_MALFO_UPPER_ALIME_TRACT

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 Q40
  • Cause of death: ICD-10 Q40

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

224

4. Check minimum number of events

None

224

5. Include endpoints

None

224

6. Filter based on genotype QC (FinnGen only)

218

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q3[8-9]|Q4[0-5]
Name in latin Aliae malformationes congenitae tractus digestorii superioris

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 2520 841 1677
Only index persons 1862 650 1212
Unadjusted period prevalence (%)
Whole population 0.04 0.02 0.05
Only index persons 0.04 0.02 0.05
Median age at first event (years)
Whole population 5.28 15.36 0.17
Only index persons 15.21 41.69 1.01

-FinnGen-

Key figures

All Female Male
Number of individuals 218 100 118
Unadjusted period prevalence (%) 0.05 0.04 0.06
Median age at first event (years) 61.97 58.70 64.75

-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

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_UPPER_ALIME_TRACT and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_UPPER_ALIME_TRACT 1.843 [1.4, 2.43] < 0.001
Birth year 0.995 [0.99, 1.0] 0.266

During the follow-up period (1.1.1998 — 31.12.2019), 112 out of 751 females with Q17_OTHER_CONGEN_MALFO_UPPER_ALIME_TRACT died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_UPPER_ALIME_TRACT 2.23 [1.68, 2.95] < 0.001
Birth year 0.985 [0.97, 1.0] 0.007

During the follow-up period (1.1.1998 — 31.12.2019), 167 out of 1492 males with Q17_OTHER_CONGEN_MALFO_UPPER_ALIME_TRACT died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_UPPER_ALIME_TRACT.

N-year risk Females Males
1 0.224% 0.399%
5 1.109% 2.275%
10 2.602% 5.744%
15 5.149% 10.659%
20 8.668% 17.596%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_UPPER_ALIME_TRACT – Other congenital malformations of upper alimentary tract

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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