| gecombineerd defect in oxidatieve fosforylering type 8 (aandoening) | | gecombineerd defect in oxidatieve fosforylering type 8 | | gecombineerd defect in OXPHOS type 8
COXPD8
| | Combined oxidative phosphorylation defect type 8 | | COXPD8 - combined oxidative phosphorylation defect type 8
| | A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardiomyopathy, pulmonary hypoplasia, muscle weakness and neurological involvement. Caused by homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21. |
| | Id | 733600007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | I42.2 | | Term | Overige hypertrofische cardiomyopathie |
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| SNOMED CT to Orphanet simple map | 319504 |
| SNOMED CT to ICD-10 extended map | | Target | I42.2 | | Rule | TRUE | | Advice | ALWAYS I42.2 | 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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