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Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
disorderSNOMED 237617006CUI C0342287
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Thiamine-responsive megaloblastic anemia
Always present (100%)HP:0004860
Diabetes mellitus
Very frequent (80-99%)HP:0000819
Diarrhea
Very frequent (80-99%)HP:0002014
Headache
Very frequent (80-99%)HP:0002315
Languor
Very frequent (80-99%)HP:0001254
Megaloblastic anemia
Very frequent (80-99%)HP:0001889
Paleness
Very frequent (80-99%)HP:0000980
Paresthesia
Very frequent (80-99%)HP:0003401
Refusing to eat
Very frequent (80-99%)HP:0002039
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Optic atrophy
Frequent (30-79%)HP:0000648
Ataxia
Occasional (5-29%)HP:0001251
Atria septal defect
Occasional (5-29%)HP:0001631
Breakdown of light-sensitive cells in back of eye
Occasional (5-29%)HP:0000556
Cerebral vascular events
Occasional (5-29%)HP:0001297
Chronic heart failure
Occasional (5-29%)HP:0001635
Cognitive delay
Occasional (5-29%)HP:0001263
Cryptorchidism
Occasional (5-29%)HP:0000028
Decreased body height
Occasional (5-29%)HP:0004322
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Epilepsy
Occasional (5-29%)HP:0001250
Gastroesophageal reflux disease
Occasional (5-29%)HP:0002020
Heart stops beating
Occasional (5-29%)HP:0001695
Paroxysmal atrial tachycardia
Occasional (5-29%)HP:0006671
Situs inversus totalis
Occasional (5-29%)HP:0001696
Visual loss
Occasional (5-29%)HP:0000572
Aminoaciduria
HP:0003355
Cardiac arrhythmias
HP:0011675
Cone-rod retinal dystrophy
HP:0000548
Dermatopathy
HP:0000951
Related Conditions
Disorder of endocrine pancreas(parent)
Congenital anomaly of endocrine gland(parent)
Thiamine-responsive megaloblastic anemia(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital malformation of pancreas(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of endocrine system(parent)
Hereditary disorder of cellular element of blood(parent)
Congenital sensorineural hearing loss(parent)
Diabetes mellitus associated with genetic syndrome(parent)
Developmental hereditary disorder(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 237617006
- UMLS CUI
- C0342287
- Fully Specified Name
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (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.