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Linear scleroderma

L12_LINEARSCLERODERMA

scleroderma: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).

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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 L94.1
  • Cause of death: ICD-10 L94.1

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

32

4. Check minimum number of events

None

32

5. Include endpoints

None

32

6. Filter based on genotype QC (FinnGen only)

31

Control definitions (FinnGen only)

Control exclude L12_OTHERSKINSUBCUTIS

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 L94
Name in latin Scleroderma lineare

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 272 202 69
Only index persons 260 193 67
Unadjusted period prevalence (%)
Whole population 0.00 0.01 0.00
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 40.43 43.60 31.61
Only index persons 39.50 42.25 31.61

-FinnGen-

Key figures

All Female Male
Number of individuals 31 24 7
Unadjusted period prevalence (%) 0.01 0.01 0.00
Median age at first event (years) 39.55 38.29 43.86

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

Mortality – FinRegistry

Association

Association between endpoint L12_LINEARSCLERODERMA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_LINEARSCLERODERMA.

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: L12_LINEARSCLERODERMA – Linear scleroderma

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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