Disorders of iron metabolism

E4_IRON_MET

hereditary hemochromatosis type 1: Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease

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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 — E83.1 Hospital discharge: ICD-9 — 2750 Cause of death: ICD-10 — E83.1 Cause of death: ICD-9 — 2750 2 out of 7 registries used, show all original rules.	378
4. Check minimum number of events None	378
5. Include endpoints None	378
6. Filter based on genotype QC (FinnGen only)	358

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4

First used in FinnGen datafreeze DF2

Parent code in ICD-10 E83

Name in latin Perturbationes metabolismi ferri

NAME	E4_IRON_MET
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	E831
HD_ICD_9	2750
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E831
COD_ICD_9	2750
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Disorders of iron metabolism based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

None

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	2585	1043	1510
Only index persons	2299	965	1334
Unadjusted period prevalence (%)
Whole population	0.04	0.03	0.04
Only index persons	0.04	0.04	0.05
Median age at first event (years)
Whole population	55.61	56.88	54.60
Only index persons	55.33	56.71	54.33

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	358	166	192
Unadjusted period prevalence (%)	0.09	0.07	0.11
Median age at first event (years)	55.96	56.80	55.23

≡ 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

Disorders of iron metabolism

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 Disorders of iron metabolism (E4_IRON_MET)

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