Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

disorder

SNOMED 237617006CUI C0342287

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

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

Megaloblastic anemia

Very frequent (80-99%)HP:0001889

Obsessive dieting

Very frequent (80-99%)HP:0002039

Paleness

Very frequent (80-99%)HP:0000980

Paresthesia

Very frequent (80-99%)HP:0003401

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Torpor

Very frequent (80-99%)HP:0001254

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

Cardiac insufficiency

Occasional (5-29%)HP:0001635

Cerebral vascular events

Occasional (5-29%)HP:0001297

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

Mental and motor retardation

Occasional (5-29%)HP:0001263

Paroxysmal atrial tachycardia

Occasional (5-29%)HP:0006671

Situs inversus

Occasional (5-29%)HP:0001696

Visual loss

Occasional (5-29%)HP:0000572

Cardiac arrhythmias

HP:0011675

Cone-rod retinal dystrophy

HP:0000548

Dermatopathy

HP:0000951

Husky voice

HP:0001609

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.