| deficiëntie van 3-hydroxy-3-methylglutaryl-co-enzym-A-synthase (aandoening) | | deficiëntie van 3-hydroxy-3-methylglutaryl-co-enzym-A-synthase | | 3-hydroxy-3-methylglutaryl-co-enzym-A-synthasedeficiëntie
HMG-CoA-synthasedeficiëntie
3-hydroxy-3-methylglutaryl-CoA-synthasedeficiëntie
| | 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency | | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase
HMG-coenzyme A synthase deficiency
| | A rare autosomal recessively inherited disorder of ketone body metabolism, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12. |
| | Id | 725286002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 35701 |
| SNOMED CT to ICD-10 extended map | | Target | E71.3 | | Rule | TRUE | | Advice | ALWAYS E71.3 | 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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