Corneal dystrophy and perceptive deafness syndrome

disorder

SNOMED 720749004CUI C1857572

Overview

Corneal dystrophy and perceptive deafness 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.

Corneal dystrophy

Very frequent (80-99%)HP:0001131

Poor vision

Very frequent (80-99%)HP:0000505

Scarring or clouding of the cornea of the eye

Very frequent (80-99%)HP:0007957

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Cloudy cornea

HP:0007759

Decreased visual acuity

HP:0007663

Related Conditions

Sensorineural hearing loss(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Congenital corneal dystrophy(parent)

Congenital hereditary endothelial dystrophy(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 720749004
UMLS CUI: C1857572
Fully Specified Name: Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.