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Cleft lip and cleft lip and palate

Endpoint Browser PheWeb

Q17_CLEFT_LIP_OR_LIP_AND_PALATE

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

  • not Q17_CLEFT_PALATE_EXCLUDE
428574

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

Registry filters:

  • Hospital discharge: ICD-10 — Q36, Q37
  • Hospital discharge: ICD-9 — 7491[A-G]|7492[A-E]
  • Hospital discharge: ICD-8 — 74910|7491[123]|74920|74924
  • Cause of death: ICD-10 — Q36, Q37
  • Cause of death: ICD-9 — 7491[A-G]|7492[A-E]
  • Cause of death: ICD-8 — 74910|7491[123]|74920|74924

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

229

4. Check minimum number of events

None

229

5. Include endpoints

None

229

6. Filter based on genotype QC (FinnGen only)

218

Control definitions (FinnGen only)

Control conditions not Q17_CLEFT_PALATE_EXCLUDE

Extra metadata

First used in FinnGen datafreeze DF10

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3787 1514 2265
Only index persons 3203 1302 1901
Unadjusted period prevalence (%)
Whole population 0.06 0.04 0.06
Only index persons 0.06 0.05 0.07
Median age at first event (years)
Whole population 0.78 1.04 0.51
Only index persons 1.26 2.28 0.56

-FinnGen-

Key figures

All Female Male
Number of individuals 218 111 107
Unadjusted period prevalence (%) 0.05 0.05 0.06
Median age at first event (years) 9.40 14.37 4.24

-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

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Relationships between endpoints

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Index endpoint: Q17_CLEFT_LIP_OR_LIP_AND_PALATE – Cleft lip and cleft lip and palate

GWS hits: 1

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