| fatale mitochondriale ziekte door gecombineerd defect in oxidatieve fosforylering type 3 (aandoening) | | fatale mitochondriale ziekte door gecombineerd defect in oxidatieve fosforylering type 3 | | fatale mitochondriale ziekte door COXPD3
combined oxidative phosphorylation deficiency type 3
fatale mitochondriale ziekte door gecombineerde oxidatieve fosforyleringdeficiëntie type 3
| | Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | | Combined oxidative phosphorylation deficiency type 3
| | Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogeneous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. |
| | Id | 720951008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| DHD Diagnosis thesaurus reference set |
| 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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| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen |
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