Overview
Congenital defect of folate absorption 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.
Folate-responsive megaloblastic anemia
Always present (100%)HP:0004851
Predisposition to infections
Always present (100%)HP:0002719
Reduced blood folate concentration
Always present (100%)HP:0100507
Abnormality of movement
Very frequent (80-99%)HP:0100022
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased circulating immunoglobulin concentration
Very frequent (80-99%)HP:0004313
Diarrhea
Very frequent (80-99%)HP:0002014
Immunological abnormality
Very frequent (80-99%)HP:0002715
Inflammation of the tongue
Very frequent (80-99%)HP:0000206
Megaloblastic anemia
Very frequent (80-99%)HP:0001889
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Obsessive dieting
Very frequent (80-99%)HP:0002039
Paleness
Very frequent (80-99%)HP:0000980
Poor weight gain
Very frequent (80-99%)HP:0001508
Red and sore lips
Very frequent (80-99%)HP:0100825
Behavioural disorders
Frequent (30-79%)HP:0000708
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Peripheral neuropathy
Frequent (30-79%)HP:0009830
Seizures
Frequent (30-79%)HP:0001250
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Eosinophilia
Occasional (5-29%)HP:0001880
Immune deficiency
Occasional (5-29%)HP:0002721
Increased reflexes
Occasional (5-29%)HP:0001347
Neurogenic muscle atrophy, especially in the lower limbs
Occasional (5-29%)HP:0003202
Pancytopenia
Occasional (5-29%)HP:0001876
Repeated bladder infections
Occasional (5-29%)HP:0000010
respiratory infections, recurrent
Occasional (5-29%)HP:0002205
Thrombocytopenia
Occasional (5-29%)HP:0001873
Ataxia
HP:0001251
Athetoid movements
HP:0002305
Quick Facts
- SNOMED CT
- 62578003
- UMLS CUI
- C0342705
- Fully Specified Name
- Congenital defect of folate absorption (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.