| passagère neonatale glutaaracidurie type 2 (aandoening) | | passagère neonatale glutaaracidurie type 2 | | transiënte neonatale multipele acyl-CoA-dehydrogenasedeficiëntie
passagère neonatale multipele deficiëntie van acyl-co-enzym-A-dehydrogenase
passagère neonatale MADD
| | Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency | | Transient neonatal glutaric acidemia type 2
Transient neonatal MAD (multiple acyl-coenzyme A dehydrogenase) deficiency
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Transient neonatal glutaric aciduria type 2
| | A very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. |
| | Id | 723552005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E71.3 | | Term | Stoornissen van vetzuurmetabolisme |
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| SNOMED CT to Orphanet simple map | 329942 |
| 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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