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spiergebonden en hartgebonden glycogeensynthasedeficiëntie (aandoening)
spiergebonden en hartgebonden glycogeensynthasedeficiëntie
spiergebonden en hartgebonden deficiëntie van glycogeensynthase
spiergebonden en hartgebonden glycogeensynthetasedeficiëntie
Muscle and heart glycogen synthase deficiency
Glycogenosis type 0b
Glycogenosis due to muscle and heart glycogen synthase deficiency
Glycogen storage disease type 0b
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
This syndrome has characteristics of muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.
Id725027004
StatusPrimitive
Finding sitestructuur van lever
Occurrencecongenitaal
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE74.0
RuleTRUE
AdviceALWAYS E74.0
CorrelationSNOMED CT source code to target map code correlation not specified