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

See these related core endpoints for full statistics:

Severe combined immunodeficiency [SCID] with low or normal B-cell numbers

D3_SCIDC

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 D81.2
  • Cause of death: ICD-10 D81.2

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

19

4. Check minimum number of events

None

19

5. Include endpoints

None

19

6. Filter based on genotype QC (FinnGen only)

17

Control definitions (FinnGen only)

Control exclude D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D81
Name in latin Deficientia immunalis mixta gravis cum deficientia sive numero normali cellularum B

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 194 144 49
Only index persons 163 130 33
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population 56.05 54.27 61.68
Only index persons 54.39 52.61 61.43

-FinnGen-

Key figures

All Female Male
Number of individuals 17 14 -
Unadjusted period prevalence (%) 0.00 0.01 -
Median age at first event (years) 50.32 47.77 -

-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 D3_SCIDC and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_SCIDC.

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: D3_SCIDC – Severe combined immunodeficiency [SCID] with low or normal B-cell numbers

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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