| gecombineerd defect in oxidatieve fosforylering type 30 (aandoening) | | gecombineerd defect in oxidatieve fosforylering type 30 | | COXPD30
gecombineerd defect in OXPHOS type 30
| | Combined oxidative phosphorylation defect type 30 | | COXPD30 - combined oxidative phosphorylation defect type 30
| | A rare mitochondrial oxidative phosphorylation disorder with characteristics of neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle. |
| | Id | 1172841001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 478042 |
| 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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