| 'polyglucosan body myopathy' type 2 (aandoening) | | 'polyglucosan body myopathy' type 2 | | myopathie met polyglucosanlichaampjes type 2
| | Polyglucosan body myopathy type 2 | | PGBM2 - polyglucosan body myopathy type 2
| | A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. |
| | Id | 1228849007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E74.0 | | Term | Glycogeenstapelingsziekte |
|
| SNOMED CT to Orphanet simple map | 456369 |
| SNOMED CT to ICD-10 extended map | | Target | E74.0 | | Rule | TRUE | | Advice | ALWAYS E74.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
