Cochleosaccular degeneration and cataract syndrome

disorder

SNOMED 715528001CUI C1861512

Overview

Cochleosaccular degeneration and cataract 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.

Cataract

Very frequent (80-99%)HP:0000518

Progressive bilateral sensorineural hearing loss

Very frequent (80-99%)HP:0000408

Progressive cochlear degeneration

Very frequent (80-99%)HP:0005102

Ataxia

Frequent (30-79%)HP:0001251

Epilepsy

Occasional (5-29%)HP:0001250

Abnormality of the nervous system

HP:0000707

Cataract, progressive

HP:0007834

Hypoacusis

HP:0000365

Related Conditions

Autosomal dominant hereditary disorder(parent)

Cataract(parent)

Inherited cochlear degeneration(parent)

Hereditary disorder of the visual system(parent)

Quick Facts

SNOMED CT: 715528001
UMLS CUI: C1861512
Fully Specified Name: Cochleosaccular degeneration and cataract syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.