|'central core'-myopathie (aandoening)|
central core disease
Aangeboren spierziekte waarbij het centrum van de spiervezels aangetast is.
Central core disease
Central core myopathy
An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).
|DHD Diagnosis thesaurus reference set|
|RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set|
|SNOMED CT to Orphanet simple map||597|
|SNOMED CT to ICD-10 extended map|
|Correlation||SNOMED CT source code to target map code correlation not specified|