| glycogeenstapelingsziekte door deficiëntie van bèta-enolase in spier (aandoening) | | glycogeenstapelingsziekte door deficiëntie van bèta-enolase in spier | | glycogenose door bèta-enolasedeficiëntie in spier
GSD type 13
GSDXIII
| | Glycogen storage disease due to muscle beta-enolase deficiency | | GSDXIII - glycogen storage disease type XIII
Muscle enolase deficiency
Glycogenosis type 13
Glycogenosis due to muscle beta-enolase deficiency
| | A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. |
| | Id | 1162916008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E74.0 | | Term | Glycogeenstapelingsziekte |
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| SNOMED CT to Orphanet simple map | 99849 |
| SNOMED CT to ICD-10 extended map | | Target | E74.0 | | Rule | TRUE | | Advice | ALWAYS E74.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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