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This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

Epidermolysis bullosa

Q17_EPIDERMOL_BULLOSA

epidermolysis bullosa: a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

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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 Q81
  • Cause of death: ICD-10 Q81

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

43

4. Check minimum number of events

None

43

5. Include endpoints

None

43

6. Filter based on genotype QC (FinnGen only)

43

Control definitions (FinnGen only)

Control exclude Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q8
Name in latin Epidermolysis bullosa

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 489 266 222
Only index persons 416 226 190
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 22.22 27.80 15.49
Only index persons 22.99 28.57 16.35

-FinnGen-

Key figures

All Female Male
Number of individuals 43 27 16
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 31.29 36.91 21.80

-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

Not a core endpoint, no data to show.

Mortality – FinRegistry

Association

Association between endpoint Q17_EPIDERMOL_BULLOSA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_EPIDERMOL_BULLOSA.

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_EPIDERMOL_BULLOSA – Epidermolysis bullosa

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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