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. |
| 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 |
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