Congenital malformations of eye, ear, face and neck

Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

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 Q10-Q18

Cause of death: ICD-10 Q10-Q18

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

2017

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Check minimum number of events None

2017

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Include endpoints

Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT

Q17_ANOPH_MICROPHT_MACROP

Q17_CONGEN_LENS_MALFO

Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE

Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE

Q17_OTHER_CONGEN_MALFO_EYE

Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING

Q17_OTHER_CONGEN_MALFO_EAR

Q17_OTHER_CONGEN_MALFO_FACE_NECK

2017

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Remove individuals based on genotype QC

1927

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Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

Control definitions

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 Malformationes congenitae oculorum, aurium, faciei et colli

NAME	Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT\|Q17_ANOPH_MICROPHT_MACROP\|Q17_CONGEN_LENS_MALFO\|Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE\|Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE\|Q17_OTHER_CONGEN_MALFO_EYE\|Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING\|Q17_OTHER_CONGEN_MALFO_EAR\|Q17_OTHER_CONGEN_MALFO_FACE_NECK
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q1
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q1
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

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Or the full data table

Similar endpoints

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List of similar endpoints to Congenital malformations of eye, ear, face and neck based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

Show all endpoint correlations

Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	1927	1209	718
Unadjusted prevalence (%)	0.51	0.57	0.43
Mean age at first event (years)	33.25	31.22	36.65

Mortality

Follow-up	Absolute risk	HR [95% CI]	p	N
1998–2019	0.02	1.22 [0.41, 3.67]	7.2e-1	61
15 years	0.01	0.74 [0.27, 2.08]	5.7e-1	27
5 years	0.00	1.83 [0.73, 4.63]	2.0e-1	16
1 year	-	-	-	-

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK – Congenital malformations of eye, ear, face and neck
GWS hits:

Survival analyses between endpoints

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Plot

before Congenital malformations of eye, ear, face and neck
after Congenital malformations of eye, ear, face and neck

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Table

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Drugs most likely to be purchased after Congenital malformations of eye, ear, face and neck

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Endpoint not on priority list, no data to show.