Other congenital malformations, not elsewhere classified

Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED

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 Q89
  • Cause of death: ICD-10 Q89

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

277

4. Check minimum number of events

None

277

5. Include endpoints

None

277

6. Filter based on genotype QC (FinnGen only)

262

Control definitions (FinnGen only)

Control exclude Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q8
Name in latin Aliae malformationes congenitae non alibi classificatae

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 3086 1558 1514
Only index persons 2386 1228 1158
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.04
Only index persons 0.04 0.05 0.04
Median age at first event (years)
Whole population 10.81 12.42 8.94
Only index persons 16.53 18.98 13.93

-FinnGen-

Key figures

All Female Male
Number of individuals 262 163 99
Unadjusted period prevalence (%) 0.06 0.06 0.05
Median age at first event (years) 31.78 33.28 29.30

-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

No data

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED 2.187 [1.37, 3.49] 0.001
Birth year 1.0 [0.99, 1.01] 0.963

During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 1318 females with Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED 2.337 [1.7, 3.21] < 0.001
Birth year 0.989 [0.98, 1.0] 0.018

During the follow-up period (1.1.1998 — 31.12.2019), 93 out of 1304 males with Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED.

N-year risk Females Males
1 0.212% 0.481%
5 1.422% 2.848%
10 3.576% 6.989%
15 6.823% 13.087%
20 12.109% 21.146%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED – Other congenital malformations, not elsewhere classified

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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