Classical phenylketonuria

DOID MESH PheWeb

E4_PHENYLKETOUR

No definition available.

Endpoint definition

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FinnGen phenotype data

392423 individuals

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Apply sex-specific rule None

392423

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Check conditions None

392423

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Check pre-conditions, main-only, mode, registry filters

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

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

23

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Check minimum number of events None

23

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Include endpoints None

23

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Remove individuals based on genotype QC

20

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E4_PHENYLKETOUR

Control definitions

Control exclude E4_METABOLIA

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)

NAME	E4_PHENYLKETOUR
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E700
HD_ICD_9	2701
HD_ICD_8	27000
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E700
COD_ICD_9	2701
COD_ICD_8	27000
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

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Or the full data table

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	20	10	10
Unadjusted prevalence (%)	0.01	0.00	0.01
Mean age at first event (years)	37.53	34.67	40.38

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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Not a core endpoint, no data to show.

Drugs most likely to be purchased after Classical phenylketonuria

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Endpoint not on priority list, no data to show.