Lipomatosis, not elsewhere classified

E4_LIPOMATOSIS

lipomatosis: an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders.

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Endpoint definition

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 E88.2#
  • Cause of death: ICD-10 E88.2#

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

76

4. Check minimum number of events

None

76

5. Include endpoints

None

76

6. Filter based on genotype QC (FinnGen only)

74

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E88
Name in latin Lipomatosis non alibi classificata

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 515 278 233
Only index persons 487 269 218
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 53.98 54.63 53.59
Only index persons 54.26 54.83 53.56

-FinnGen-

Key figures

All Female Male
Number of individuals 74 43 31
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 54.74 55.23 54.07

-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: E4_LIPOMATOSIS – Lipomatosis, not elsewhere classified

GWS hits: 1

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