Other congenital malformations

Q17_OTHER_CONGEN_MALFO

No definition available.

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 — Q80-Q89 Cause of death: ICD-10 — Q80-Q89 2 out of 7 registries used, show all original rules.	2925
4. Check minimum number of events None	2925
5. Include endpoints Q17_CONGEN_ICHTHYOSIS Q17_EPIDERMOL_BULLOSA Q17_OTHER_CONGEN_MALFO_SKIN Q17_CONGEN_MALFO_BREAST Q17_OTHER_CONGEN_MALFO_INTEG Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED Q17_CONGEN_MALFO_SYNDR_KNOWN_EXOGE_CAUSES_NOT_ELSEW_CLASSIFIED Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED	2925
6. Filter based on genotype QC (FinnGen only)	2799

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 DF4

Parent code in ICD-10 Q

Name in latin Aliae malformationes congenitae

NAME	Q17_OTHER_CONGEN_MALFO
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	Q17_CONGEN_ICHTHYOSIS\|Q17_EPIDERMOL_BULLOSA\|Q17_OTHER_CONGEN_MALFO_SKIN\|Q17_CONGEN_MALFO_BREAST\|Q17_OTHER_CONGEN_MALFO_INTEG\|Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED\|Q17_CONGEN_MALFO_SYNDR_KNOWN_EXOGE_CAUSES_NOT_ELSEW_CLASSIFIED\|Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS\|Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q8
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q8
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 Other congenital malformations based on the number of shared cases.

Broader endpoints:

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	36015	21253	14666
Only index persons	29245	17832	11413
Unadjusted period prevalence (%)
Whole population	0.53	0.61	0.41
Only index persons	0.57	0.66	0.44
Median age at first event (years)
Whole population	17.09	21.53	10.53
Only index persons	22.14	26.49	15.34

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	2799	1904	895
Unadjusted period prevalence (%)	0.72	0.83	0.49
Median age at first event (years)	37.06	35.38	40.63

≡ 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

Other congenital malformations

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 Other congenital malformations (Q17_OTHER_CONGEN_MALFO)

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