| hyperprolinemie type 2 (aandoening) | | hyperprolinemie type 2 | | Hyperprolinemia type 2 | | Hyperprolinemia type II
| | An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. |
| | Id | 717181004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 79101 |
| SNOMED CT to ICD-10 extended map | | Target | E72.5 | | Rule | TRUE | | Advice | ALWAYS E72.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
