Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome

disorder

SNOMED 720519003CUI C2931125

Overview

Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome 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.

Abnormality of mitochondrial metabolism

Very frequent (80-99%)HP:0003287

Cerebral artery atherosclerosis

Very frequent (80-99%)HP:0007201

Decreased body height

Very frequent (80-99%)HP:0004322

Low number of red blood cells or hemoglobin

Very frequent (80-99%)HP:0001903

Photomyoclonic seizure

Very frequent (80-99%)HP:0001327

Plaque build-up in arteries supplying blood to heart

Very frequent (80-99%)HP:0001677

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Type I diabetes mellitus

Very frequent (80-99%)HP:0100651

Worsening neurological symptoms

Very frequent (80-99%)HP:0002344

Abnormal mitral valve morphology

Frequent (30-79%)HP:0001633

Arterial stenosis

Frequent (30-79%)HP:0100545

Cerebellar hypoplasia/atrophy

Frequent (30-79%)HP:0007360

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cryptorchidism

Frequent (30-79%)HP:0000028

Gait disturbance

Frequent (30-79%)HP:0001288

High blood pressure

Frequent (30-79%)HP:0000822

Hypertonia

Frequent (30-79%)HP:0001276

Kidney disease

Frequent (30-79%)HP:0000112

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Nephrosis

Frequent (30-79%)HP:0000100

Prominent swayback

Frequent (30-79%)HP:0003307

Proteinuria

Frequent (30-79%)HP:0000093

Tremor

Frequent (30-79%)HP:0001337

Related Conditions

Epilepsy(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of nervous system(parent)

Atherosclerosis of artery(parent)

Hereditary nephropathy(parent)

Sensorineural hearing loss(parent)

Secondary diabetes mellitus(parent)

Metabolic renal disease(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 720519003
UMLS CUI: C2931125
Fully Specified Name: Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.