Congenital myopathies

G6_CONMYOP

central core myopathy: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)

Endpoint definition

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FinnGen phenotype data

392423 individuals

Apply sex-specific rule None

392423

Check conditions None

392423

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

Hospital Discharge: ICD-10 G71.2

Hospital discharge: ICD-9 3590A

Cause of death: ICD-10 G71.2

Cause of death: ICD-9 3590A

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

Check minimum number of events None

Include endpoints None

Remove individuals based on genotype QC

G6_CONMYOP

Control definitions

Control exclude G6_MYONEU

Extra metadata

Level in the ICD hierarchy 3

First used in FinnGen datafreeze DF2

Parent code in ICD-10 G71

Name in latin Myopathiae congenitae

NAME	G6_CONMYOP
CONTROL_EXCLUDE	G6_MYONEU
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G712
HD_ICD_9	3590A
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	G712
COD_ICD_9	3590A
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