| deficiëntie van lipoyltransferase 2 (aandoening) | | deficiëntie van lipoyltransferase 2 | | lipoyltransferase 2-deficiëntie
| | Lipoyl transferase 2 deficiency | | A rare inborn error of metabolism with characteristics of severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination and white matter abnormalities among others. |
| | Id | 1269231008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 447795 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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