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Unspecified/other endometriosis

DOID EFO Endpoint Browser PheWeb

N14_ENDOMETRIOSIS_NOS

endometriosis: The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

only females

265735

2. Check conditions

None

265735

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

Registry filters:

  • Hospital discharge: ICD-10 — N80.8, N80.80, N80.81, N80.89, N80.9
  • Hospital discharge: ICD-9 — 617[8-9]
  • Hospital discharge: ICD-8 — 6253[8-9]
  • Cause of death: ICD-10 — N80.8, N80.80, N80.81, N80.89, N80.9
  • Cause of death: ICD-9 — 617[8-9]
  • Cause of death: ICD-8 — 6253[8-9]

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

3897

4. Check minimum number of events

None

3897

5. Include endpoints

None

3897

6. Filter based on genotype QC (FinnGen only)

3745

Control definitions (FinnGen only)

Control exclude N14_FEMALEGENNONINF

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

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 23509 23509 -
Only index persons 22838 22838 -
Unadjusted period prevalence (%)
Whole population 0.67 0.67 -
Only index persons 0.84 0.84 -
Median age at first event (years)
Whole population - 34.46 -
Only index persons - 34.34 -

-FinnGen-

Key figures

All Female Male
Number of individuals 3745 3745 -
Unadjusted period prevalence (%) 1.47 1.47 -
Median age at first event (years) 34.38 34.38 -

-FinRegistry-

Age distribution of first events

020304050607080900k1k2k3k4k5k6k7k8k9kAgeIndividuals

-FinnGen-

Age distribution of first events

02030405060700.0k0.2k0.4k0.6k0.8k1.0k1.2k1.4kAgeIndividuals

-FinRegistry-

Year distribution of first events

1970197519801985199019952000200520102015202020220.0k0.5k1.0k1.5k2.0k2.5k3.0k3.5k4.0kYearIndividuals

-FinnGen-

Year distribution of first events

1970197519801985199019952000200520102015202020230100200300400500600700800YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.20.40.60.81.01.21.41.61.82.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

01020304050607080901000.00.51.01.52.02.53.03.54.0AgeProbability of first incidence (%)

Mortality – FinRegistry

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Association

Association between endpoint N14_ENDOMETRIOSIS_NOS and mortality.

Females

Parameter HR [95% CI] p-value
N14_ENDOMETRIOSIS_NOS 1.014 [0.87, 1.19] 0.864
Birth year 0.997 [0.99, 1.01] 0.506

During the follow-up period (1.1.1998 — 31.12.2019), 226 out of 15041 females with N14_ENDOMETRIOSIS_NOS died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have N14_ENDOMETRIOSIS_NOS.

N-year risk Females Males
1 0.084% No data
5 0.582% No data
10 1.561% No data
15 3.061% No data
20 5.287% No data

Relationships between endpoints

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Index endpoint: N14_ENDOMETRIOSIS_NOS – Unspecified/other endometriosis

GWS hits: 5

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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