Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased lactate dehydrogenase level
Always present (100%)HP:0025435
Increased RBC distribution width
Always present (100%)HP:0031965
Intrinsic factor absent from gastric juice
Always present (100%)HP:0005219
Malabsorption of cyanocobalamin
Always present (100%)HP:0200118
Reduced haptoglobin level
Always present (100%)HP:0020181
Megaloblastic anemia
Very frequent (80-99%)HP:0001889
Vitamin B12 deficiency
Very frequent (80-99%)HP:0100502
Homocystinemia
Frequent (30-79%)HP:0002160
Methylmalonic acidemia
Frequent (30-79%)HP:0002912
Predisposition to infections
Frequent (30-79%)HP:0002719
Progressive dementia
Frequent (30-79%)HP:0000726
Prostration
Frequent (30-79%)HP:0025406
Specific learning disability
Frequent (30-79%)HP:0001328
Degeneration of the spinal cord
Occasional (5-29%)HP:0006827
Headache
Occasional (5-29%)HP:0002315
Methymalonicaciduria
Occasional (5-29%)HP:0012120
Neuropathy
Occasional (5-29%)HP:0009830
Paresthesia
Occasional (5-29%)HP:0003401
Very poor growth
Occasional (5-29%)HP:0001510
Increased MCV
HP:0005518
Megaloblastic erythroid hyperplasia
HP:0200143
Sensory impairment
HP:0003474
Related Conditions
Quick Facts
- SNOMED CT
- 234361004
- UMLS CUI
- C2062370
- Fully Specified Name
- Congenital deficiency of intrinsic factor (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.