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Craniosynostosis EXCLUDE syndromes

EFO Endpoint Browser PheWeb

Q17_CRANIOSYNOSTOSIS

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

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1. Apply sex-specific rule

None

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2. Check conditions

  • not Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1
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3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — Q75.0
  • Hospital discharge: ICD-9 — 7560A
  • Hospital discharge: ICD-8 — 75600
  • Cause of death: ICD-10 — Q75.0
  • Cause of death: ICD-9 — 7560A
  • Cause of death: ICD-8 — 75600

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

71

4. Check minimum number of events

None

71

5. Include endpoints

None

71

6. Filter based on genotype QC (FinnGen only)

62

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 4
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 2233 737 1495
Only index persons 1589 533 1056
Unadjusted period prevalence (%)
Whole population 0.03 0.02 0.04
Only index persons 0.03 0.02 0.04
Median age at first event (years)
Whole population 0.67 0.74 0.60
Only index persons 0.75 0.84 0.70

-FinnGen-

Key figures

All Female Male
Number of individuals 62 36 26
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 1.18 1.67 0.50

-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

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Association

Association between endpoint Q17_CRANIOSYNOSTOSIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CRANIOSYNOSTOSIS.

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

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Index endpoint: Q17_CRANIOSYNOSTOSIS – Craniosynostosis EXCLUDE syndromes

GWS hits: 1

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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