Metabolic disorders

E4_METABOLIA

metabolic disease: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.

Suggest a new description

Endpoint definition

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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 — E70-E90 Cause of death: ICD-10 — E70-E90 2 out of 7 registries used, show all original rules.	60431
4. Check minimum number of events None	60431
5. Include endpoints E4_AROMAMINO E4_BRANCHAMINOFATAC E4_AMINO E4_LACTOSEINT E4_CARBO E4_SPHINGOLIP E4_GLYCOSAMINOGLYC E4_GLYCOPROT E4_LIPOPROT E4_PURINEPYRI E4_PORBILIR E4_MINERAL_MET E4_CYSTFIBRO E4_AMYLOIDOSIS E4_VOLUME E4_FLUIDELECTRO E4_METABO	62026
6. Filter based on genotype QC (FinnGen only)	59947

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 2

First used in FinnGen datafreeze DF2

NAME	E4_METABOLIA
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	E4_AROMAMINO\|E4_BRANCHAMINOFATAC\|E4_AMINO\|E4_LACTOSEINT\|E4_CARBO\|E4_SPHINGOLIP\|E4_GLYCOSAMINOGLYC\|E4_GLYCOPROT\|E4_LIPOPROT\|E4_PURINEPYRI\|E4_PORBILIR\|E4_MINERAL_MET\|E4_CYSTFIBRO\|E4_AMYLOIDOSIS\|E4_VOLUME\|E4_FLUIDELECTRO\|E4_METABO
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E[7-9]
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E[7-9]
COD_ICD_9
COD_ICD_8
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

Similar endpoints

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List of similar endpoints to Metabolic disorders based on the number of shared cases.

Broader endpoints:

Endocrine, nutritional and metabolic diseases

Narrower endpoints:

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	600866	310200	287867
Only index persons	546864	283002	263862
Unadjusted period prevalence (%)
Whole population	8.45	8.88	8.04
Only index persons	10.24	10.40	10.07
Median age at first event (years)
Whole population	67.87	70.68	64.84
Only index persons	67.66	70.30	64.83

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	59947	28809	31138
Unadjusted period prevalence (%)	14.91	12.51	17.13
Median age at first event (years)	64.89	64.40	65.34

≡ Risteys

FR+FG R10

FinnGen Risteys R10

FinnGen Risteys R9

FinnGen Risteys R8

FinnGen Risteys R7

FinnGen Risteys R6

FinnGen Risteys R5

FinnGen Risteys R4

FinnGen Risteys R3

Metabolic disorders

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Metabolic disorders (E4_METABOLIA)

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

Mortality – FinRegistry

Relationships between endpoints