Congenital malformations of ear causing impairment of hearing

Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING

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 Q16
  • Cause of death: ICD-10 Q16

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

120

4. Check minimum number of events

None

120

5. Include endpoints

None

120

6. Filter based on genotype QC (FinnGen only)

118

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q1
Name in latin Malformationes congenitae auris cum hypacusi

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 1650 742 906
Only index persons 1416 646 770
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.03
Only index persons 0.03 0.02 0.03
Median age at first event (years)
Whole population 11.63 13.91 9.73
Only index persons 14.11 16.09 12.45

-FinnGen-

Key figures

All Female Male
Number of individuals 118 69 49
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 27.78 22.51 35.19

-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_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING – Congenital malformations of ear causing impairment of hearing

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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