| Vitamin B12-unresponsive methylmalonic acidemia (disorder) | | Vitamin B12-unresponsive methylmalonic acidemia | | Methylmalonic acidemia due to deficiency of methylmalonyl-coenzyme A mutase
Vitamin B12-unresponsive methylmalonic aciduria
Methylmalonic aciduria mut type
| | Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. |
| | Id | 1409230003 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | 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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