Severe early childhood onset retinal dystrophy

disorder

SNOMED 716663009CUI C1858080

Overview

Severe early childhood onset retinal dystrophy 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.

Bull's eye maculopathy

Always present (100%)HP:0011504

Abnormal pupillary light reflex

Frequent (30-79%)HP:0007695

Abnormality of the macula

Frequent (30-79%)HP:0001103

Abolished electroretinogram

Frequent (30-79%)HP:0000550

Attenuation of retinal blood vessels

Frequent (30-79%)HP:0007843

Color vision defect, severe

Frequent (30-79%)HP:0000551

Decreased visual acuity

Frequent (30-79%)HP:0007663

Fundus with peripheral bony spicules

Frequent (30-79%)HP:0007737

Impaired vision

Frequent (30-79%)HP:0000505

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Night blindness

Frequent (30-79%)HP:0000662

Optic disc pallor

Frequent (30-79%)HP:0000543

Optic nerve head drusen

Frequent (30-79%)HP:0012426

Retinal degeneration

Frequent (30-79%)HP:0000546

Retinal pigmentary anomaly

Frequent (30-79%)HP:0007703

RPE irregularity

Frequent (30-79%)HP:0007814

Tunnel vision

Frequent (30-79%)HP:0007994

Abnormal corneal endothelium morphology

Occasional (5-29%)HP:0011488

Blurred vision

Occasional (5-29%)HP:0000622

Chorioretinal atrophy

Occasional (5-29%)HP:0000533

Delayed milestone development

Occasional (5-29%)HP:0012434

Granular macular appearance

Occasional (5-29%)HP:0007793

Macular coloboma

Occasional (5-29%)HP:0001116

Near sighted

Occasional (5-29%)HP:0000545

Outward facing eye ball

Occasional (5-29%)HP:0000577

Photophobia

Occasional (5-29%)HP:0000613

Posterior subcapsular cataracts

Occasional (5-29%)HP:0007787

Posterior synechiae

Occasional (5-29%)HP:0011484

Postural instability

Occasional (5-29%)HP:0002172

Psychomotor retardation, mild

Occasional (5-29%)HP:0011342

Related Conditions

Hereditary retinal dystrophy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 716663009
UMLS CUI: C1858080
Fully Specified Name: Severe early childhood onset retinal dystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.