| gecombineerd defect in oxidatieve fosforylering type 5 (aandoening) | | gecombineerd defect in oxidatieve fosforylering type 5 | | gecombineerd defect in OXPHOS type 5
COXPD5
| | Combined oxidative phosphorylation defect type 5 | | Hypotonia with lactic acidemia and hyperammonemia
COXPD5 - combined oxidative phosphorylation defect 5
| | This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia. |
| | Id | 724279004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 137908 |
| 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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