Congenital hereditary endothelial dystrophy, autosomal recessive form

disorder

SNOMED 417395001CUI C1857569

Overview

Congenital hereditary endothelial dystrophy, autosomal recessive form 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 Descemet's membrane

Very frequent (80-99%)HP:0011490

Corneal stromal edema

Very frequent (80-99%)HP:0012040

Increased corneal thickness

Very frequent (80-99%)HP:0011487

Scarring or clouding of the cornea of the eye

Very frequent (80-99%)HP:0007957

Blurred vision

Frequent (30-79%)HP:0000622

Decreased visual acuity

Frequent (30-79%)HP:0007663

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Irregular astigmatism

Occasional (5-29%)HP:0031792

Sensorineural deafness

Occasional (5-29%)HP:0000407

Corneal dystrophy

HP:0001131

Corneal stromal opacity

HP:0007759

Related Conditions

Congenital hereditary endothelial dystrophy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 417395001
UMLS CUI: C1857569
Fully Specified Name: Congenital hereditary endothelial dystrophy type 2 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.