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Systemic sclerosis

DOID EFO Endpoint Browser PheWeb

M13_SYSTSLCE

systemic scleroderma: A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

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

Registry filters:

  • Hospital discharge: ICD-10 — M34
  • Hospital discharge: ICD-9 — 7101
  • Hospital discharge: ICD-8 — 7340
  • Cause of death: ICD-10 — M34
  • Cause of death: ICD-9 — 7101
  • Cause of death: ICD-8 — 7340

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

701

4. Check minimum number of events

None

701

5. Include endpoints

None

701

6. Filter based on genotype QC (FinnGen only)

680

Control definitions (FinnGen only)

Control exclude M13_SYSTCONNECT

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M30-M36
Name in latin Sclerosis systemica

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 4561 3620 887
Only index persons 3885 3150 735
Unadjusted period prevalence (%)
Whole population 0.09 0.10 0.02
Only index persons 0.10 0.12 0.03
Median age at first event (years)
Whole population 56.25 56.54 55.13
Only index persons 55.13 55.34 54.21

-FinnGen-

Key figures

All Female Male
Number of individuals 680 560 120
Unadjusted period prevalence (%) 0.21 0.24 0.07
Median age at first event (years) 55.01 55.00 55.05

-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

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Relationships between endpoints

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Index endpoint: M13_SYSTSLCE – Systemic sclerosis

GWS hits: 1

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