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myopathie door calsequestrine-eiwitoverbelasting en SERCA1-eiwitoverbelasting (aandoening)
myopathie door calsequestrine-eiwitoverbelasting en SERCA1-eiwitoverbelasting
vacuolaire myopathie met aggregaten van proteïnen van sarcoplasmatisch reticulum
Myopathy due to calsequestrin and SERCA1 protein overload
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload
Myopathy due to calsequestrin and SERCA1 (sarcoplasmic/endoplasmic reticulum calcium ATPase 1) protein overload
A rare, genetic vacuolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
Id724095006
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.8
TermOverige gespecificeerde primaire spieraandoeningen
SNOMED CT to Orphanet simple map88635
SNOMED CT to ICD-10 extended map
TargetG71.8
RuleTRUE
AdviceALWAYS G71.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified