Systemic sclerosis,strict definition

SYSTSCLE_STRICT

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

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

  • SYSTSCLE_ICD10
688

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

Registry filters:

  • KELA reimbursements: KELA codes ANY
  • KELA reimbursements: ICD-10 M34

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

251

4. Check minimum number of events

None

251

5. Include endpoints

None

251

6. Filter based on genotype QC (FinnGen only)

244

Control definitions (FinnGen only)

Control conditions not SYSTSCLE_ICD10

Extra metadata

First used in FinnGen datafreeze DF3

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 1154 971 174
Only index persons 1108 946 162
Unadjusted period prevalence (%)
Whole population 0.02 0.03 0.00
Only index persons 0.03 0.03 0.01
Median age at first event (years)
Whole population 56.01 56.13 55.70
Only index persons 55.73 55.79 55.39

-FinnGen-

Key figures

All Female Male
Number of individuals 244 211 33
Unadjusted period prevalence (%) 0.08 0.09 0.02
Median age at first event (years) 54.51 54.37 55.42

-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

Relationships between endpoints

Index endpoint: SYSTSCLE_STRICT – Systemic sclerosis,strict definition

GWS hits: 1

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