Overview
Methylmalonic acidaemia TCb1R type is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Methylmalonic acidemia
Always present (100%)HP:0002912
Methymalonicaciduria
Always present (100%)HP:0012120
Reduced cellular cobalamin uptake
Always present (100%)HP:0034985
Homocystinemia
Frequent (30-79%)HP:0002160
Quick Facts
- SNOMED CT
- 771444002
- UMLS CUI
- C4749905
- Fully Specified Name
- Methylmalonic aciduria due to transcobalamin receptor defect (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 4
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.