Blindness, scoliosis, arachnodactyly syndrome

disorder

SNOMED 717920004CUI C4303548

Overview

Blindness, scoliosis, arachnodactyly 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.

Arachnodactyly

Very frequent (80-99%)HP:0001166

Legal blindness

Very frequent (80-99%)HP:0000618

Scoliosis

Very frequent (80-99%)HP:0002650

Visual loss

Very frequent (80-99%)HP:0000572

Esotropia

Frequent (30-79%)HP:0000565

Lens opacities

Frequent (30-79%)HP:0000518

Partially dislocated lens

Frequent (30-79%)HP:0001132

Retinal detachment

Frequent (30-79%)HP:0000541

Retinal pigmentary anomaly

Frequent (30-79%)HP:0007703

Small lens

Frequent (30-79%)HP:0012376

Squint

Frequent (30-79%)HP:0000486

Related Conditions

Autosomal dominant hereditary disorder(parent)

Blindness AND/OR vision impairment level(parent)

Connective tissue hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Quick Facts

SNOMED CT: 717920004
UMLS CUI: C4303548
Fully Specified Name: Blindness, scoliosis, arachnodactyly syndrome (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.

Blindness, scoliosis, arachnodactyly syndrome — Symptoms, Testing & Specialists | Ltrl | Healos