Other congenital malformations of skull and face bones

Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q75
  • Cause of death: ICD-10 Q75

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

100

4. Check minimum number of events

None

100

5. Include endpoints

None

100

6. Filter based on genotype QC (FinnGen only)

91

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q6[5-9]|Q7
Name in latin Aliae malformationes congenitae ossium cranii et faciei

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 3696 1272 2423
Only index persons 2224 749 1475
Unadjusted period prevalence (%)
Whole population 0.06 0.04 0.07
Only index persons 0.05 0.03 0.06
Median age at first event (years)
Whole population 0.83 0.91 0.77
Only index persons 1.25 1.40 1.18

-FinnGen-

Key figures

All Female Male
Number of individuals 91 52 39
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 2.63 3.63 1.28

-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

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES – Other congenital malformations of skull and face bones

GWS hits: -

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