Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dehydration
Very frequent (80-99%)HP:0001944
Enlarged liver
Very frequent (80-99%)HP:0002240
Languor
Very frequent (80-99%)HP:0001254
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Poor weight gain
Very frequent (80-99%)HP:0001508
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Stupor
Very frequent (80-99%)HP:0001259
Central hypotonia
Frequent (30-79%)HP:0001252
High blood ammonia levels
Frequent (30-79%)HP:0001987
Poor school performance
Frequent (30-79%)HP:0001249
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Low number of red blood cells or haemoglobin
Occasional (5-29%)HP:0001903
Renal failure in adulthood
Occasional (5-29%)HP:0000083
Quick Facts
- SNOMED CT
- 69614003
- UMLS CUI
- C0342720
- Fully Specified Name
- Adenosylcobalamin synthesis defect (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.