| glycogeenstapelingsziekte door deficiëntie van aldolase A (aandoening) | | glycogeenstapelingsziekte door deficiëntie van aldolase A | | glycogenose type XII
glycogeenstapelingsziekte type 12
glycogeenstapelingsziekte door aldolase A-deficiëntie
| | Glycogen storage disease due to aldolase A deficiency | | Glycogenosis due to aldolase A deficiency
Glycogen storage disease type 12
Glycogenosis type 12
Glycogenosis type XII
Glycogen storage disease type XII
| | An extremely rare glycogen storage disease with characteristics of hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has been reported. |
| | Id | 1187461004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 57 |
| 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 |
|
|
