Sphingolipidosis, other/unspecified

DOID MESH Endpoint Browser PheWeb

E4_SPHIGLOLIPNAS

No definition available.

Endpoint definition

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FinnGen phenotype data

429209 individuals

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Apply sex-specific rule None

429209

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Check conditions None

429209

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

Hospital Discharge: ICD-10 E75.2, E75.2+N08.4, E75.3

Hospital discharge: ICD-9 3300

Hospital discharge: ICD-8 2728[1-2]

Cause of death: ICD-10 E75.2, E75.2+N08.4, E75.3

Cause of death: ICD-9 3300

Cause of death: ICD-8 2728[1-2]

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

57

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Check minimum number of events None

57

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Include endpoints None

57

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Remove individuals based on genotype QC

54

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E4_SPHIGLOLIPNAS

Control definitions

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4

First used in FinnGen datafreeze DF2

NAME	E4_SPHIGLOLIPNAS
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	E75[2-3]
HD_ICD_9	3300
HD_ICD_8	2728[1-2]
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E75[2-3]
COD_ICD_9	3300
COD_ICD_8	2728[1-2]
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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Similar endpoints

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List of similar endpoints to Sphingolipidosis, other/unspecified 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	54	38	16
Unadjusted prevalence (%)	0.01	0.02	0.01
Mean age at first event (years)	43.41	44.91	39.86

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_SPHIGLOLIPNAS – Sphingolipidosis, other/unspecified
GWS hits:

Survival analyses between endpoints

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Plot

before Sphingolipidosis, other/unspecified
after Sphingolipidosis, other/unspecified

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Table

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Drugs most likely to be purchased after Sphingolipidosis, other/unspecified

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Endpoint not on priority list, no data to show.