| levergebonden glycogeensynthasedeficiëntie (aandoening) | | levergebonden glycogeensynthasedeficiëntie | | levergebonden deficiëntie van glycogeensynthase
levergebonden glycogeensynthetasedeficiëntie
hepatische glycogeensynthasedeficiëntie
| | Hepatic glycogen synthase deficiency | | Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease due to hepatic glycogen synthase deficiency
Glycogen storage disease type 0a
Glycogenosis type 0a
| | A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. |
| | Id | 725026008 | | 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 | 2089 |
| 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 |
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