| 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
| | Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by 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 recently 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 |
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