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

See these related core endpoints for full statistics:

Café au lait spots

L12_CAFEAULAIT

obsolete_incontinentia pigmenti achromians: a dermal melanocytic condition affecting the shoulder area. Nevus of Ito often occurs in association with nevus of Ota in the same patient but is much less common, although the true incidence is unknown.

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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 L81.3
  • Hospital discharge: ICD-9 7090B
  • Cause of death: ICD-10 L81.3
  • Cause of death: ICD-9 7090B

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

42

4. Check minimum number of events

None

42

5. Include endpoints

None

42

6. Filter based on genotype QC (FinnGen only)

40

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 L81
Name in latin Maculae caffeo-lacticae

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 1117 531 586
Only index persons 629 323 306
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population - 4.81 4.28
Only index persons 7.75 8.63 6.82

-FinnGen-

Key figures

All Female Male
Number of individuals 40 22 18
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 10.04 9.18 11.11

-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 L12_CAFEAULAIT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_CAFEAULAIT.

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_CAFEAULAIT – Café au lait spots

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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