| Methylmalonic aciduria due to transcobalamin receptor defect (disorder) | | Methylmalonic aciduria due to transcobalamin receptor defect | | Methylmalonic acidemia TCb1R type
| | Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. |
| | Id | 771444002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E71.1 | | Term | Overige gespecificeerde stofwisselingsstoornissen van aminozuren met vertakte keten |
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| SNOMED CT to ICD-10 extended map | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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