| glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatkinase 1 (aandoening) | | glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatkinase 1 | | glycogenose door deficiëntie van fosfoglyceraatkinase 1
| | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | | Glycogenosis due to phosphoglycerate kinase 1 deficiency
| | A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait. |
| | Id | 1187462006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 713 |
| 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 |
|
|
