Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal blood 5-methyltetrahydrofolate level
Always present (100%)HP:0410216
Malabsorption of cyanocobalamin
Always present (100%)HP:0200118
Microhematuria
Always present (100%)HP:0002907
Vitamin B12 deficiency
Always present (100%)HP:0100502
Hypersegmentation of neutrophil nuclei
Very frequent (80-99%)HP:0004821
Macrocytic anemia
Very frequent (80-99%)HP:0001972
Megaloblastic anemia
Very frequent (80-99%)HP:0001889
Abnormal haemoglobin concentration
Frequent (30-79%)HP:0020061
Anisopoikilocytosis
Frequent (30-79%)HP:0004823
Neutropoenia
Frequent (30-79%)HP:0001875
Oval macrocytosis
Frequent (30-79%)HP:0032566
Paleness
Frequent (30-79%)HP:0000980
Proteinuria
Frequent (30-79%)HP:0000093
Reticulocytosis
Frequent (30-79%)HP:0001923
Abnormality of the nervous system
Occasional (5-29%)HP:0000707
Bleeding tendency
Occasional (5-29%)HP:0001892
Delayed ability to walk
Occasional (5-29%)HP:0031936
Dyschezia
Occasional (5-29%)HP:0002019
Inflammation of oral commisures
Occasional (5-29%)HP:0030318
Inflammation of the tongue
Occasional (5-29%)HP:0000206
Low platelet count
Occasional (5-29%)HP:0001873
Muscular hypotonia
Occasional (5-29%)HP:0001252
No appetite
Occasional (5-29%)HP:0004396
Pancytopenia
Occasional (5-29%)HP:0001876
Psychomotor regression beginning in infancy
Occasional (5-29%)HP:0002376
Racing heart
Occasional (5-29%)HP:0001649
Speech delay
Occasional (5-29%)HP:0000750
Undergrowth
Occasional (5-29%)HP:0001508
Vomiting
Occasional (5-29%)HP:0002013
Weight loss
Occasional (5-29%)HP:0001824
Quick Facts
- SNOMED CT
- 234363001
- UMLS CUI
- C4551825
- Fully Specified Name
- Selective malabsorption of cyanocobalamin (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.