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Infantile muscular atrophy

G6_INFAMUSC

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 G12.0
  • Hospital discharge: ICD-9 3350A
  • Hospital discharge: ICD-8 33010
  • Cause of death: ICD-10 G12.0
  • Cause of death: ICD-9 3350A
  • Cause of death: ICD-8 33010

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

20

4. Check minimum number of events

None

20

5. Include endpoints

None

20

6. Filter based on genotype QC (FinnGen only)

20

Control definitions (FinnGen only)

Control exclude G6_NEUATR

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G12
Name in latin Atrophia musculorum spinalis infantilis, typus I (Werdnig-Hoffmann)

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 336 175 158
Only index persons 168 84 84
Unadjusted period prevalence (%)
Whole population 0.00 0.01 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population 34.82 32.08 37.34
Only index persons 48.25 42.81 53.69

-FinnGen-

Key figures

All Female Male
Number of individuals 20 10 10
Unadjusted period prevalence (%) 0.00 0.00 0.01
Median age at first event (years) 44.70 28.93 60.48

-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

Relationships between endpoints

Index endpoint: G6_INFAMUSC – Infantile muscular atrophy

GWS hits: -

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