| 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 characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive. |
| | 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 |
|
| SNOMED CT to Orphanet simple map | 2089 |
| 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 |
|
|
