Classical phenylketonuria

DOID MESH PheWeb

E4_PHENYLKETOUR

No definition available.

Endpoint definition

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FinnGen phenotype data

321302 individuals

Apply sex-specific rule None

321302

Check conditions None

321302

Filter registries

Hospital Discharge: ICD-10 E70.0

Hospital discharge: ICD-9 2701

Hospital discharge: ICD-8 27000

Cause of death: ICD-10 E70.0

Cause of death: ICD-9 2701

Cause of death: ICD-8 27000

Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10, 8, 9 ; C.O.D: 10, 8, 9

Check minimum number of events None

Include endpoints None

E4_PHENYLKETOUR

Extra metadata

Level in the ICD hierarchy 4

First used in FinnGen datafreeze DF2

Parent code in ICD-10 E70

Name in latin Phenylketonuria (classica)

Similar endpoints

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List of similar endpoints to Classical phenylketonuria based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

None

Show all endpoint correlations

Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	15	8	7
Unadjusted prevalence (%)	0.00	0.00	0.01
Mean age at first event (years)	35.99	35.23	36.86

Mortality

Follow-up	Absolute risk	HR [95% CI]	p	N
1998–2019	-	-	-	-
15 years	-	-	-	-
5 years	-	-	-	-
1 year	-	-	-	-

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: E4_PHENYLKETOUR – Classical phenylketonuria
GWS hits:

Survival analyses between endpoints

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Plot

before Classical phenylketonuria
after Classical phenylketonuria

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Table

Loading survival analyses table

Drugs most likely to be purchased after Classical phenylketonuria

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