Retinal degeneration, nanophthalmos, glaucoma syndrome

disorder

SNOMED 723503006CUI C2931831

Overview

Retinal degeneration, nanophthalmos, glaucoma 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.

Abnormal ERG

Very frequent (80-99%)HP:0000512

Abnormality of RPE

Very frequent (80-99%)HP:0007703

Impaired vision

Very frequent (80-99%)HP:0000505

Nanophthalmos

Very frequent (80-99%)HP:0000568

Near sighted

Very frequent (80-99%)HP:0000545

Optic atrophy

Very frequent (80-99%)HP:0000648

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Constriction of peripheral visual field

HP:0001133

Cystic macular degeneration

HP:0008028

Glaucoma

HP:0000501

Hyperopia

HP:0000540

Macular atrophy

HP:0007401

Night blindness

HP:0000662

Retinal degeneration

HP:0000546

Shallow anterior chamber

HP:0000594

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Degeneration of retina(parent)

Congenital glaucoma(parent)

Hereditary disorder of the visual system(parent)

Nanophthalmia(parent)

Congenital anomaly of retina(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 723503006
UMLS CUI: C2931831
Fully Specified Name: Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.