Blepharoptosis, myopia, ectopia lentis syndrome

disorder

SNOMED 717915004CUI C4303549

Overview

Blepharoptosis, myopia, ectopia lentis 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.

Abnormality of lens position

Very frequent (80-99%)HP:0001083

Eye drop

Very frequent (80-99%)HP:0000508

Glaucoma

Very frequent (80-99%)HP:0000501

Near sighted

Very frequent (80-99%)HP:0000545

Dysplastic fingernails

Frequent (30-79%)HP:0100798

Swelling of eyelids

Frequent (30-79%)HP:0100540

Abnormality of RPE

Occasional (5-29%)HP:0007703

Helix abnormal

Occasional (5-29%)HP:0011039

Iris coloboma

Occasional (5-29%)HP:0000612

Prominent back of the head

Occasional (5-29%)HP:0000269

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital ptosis(parent)

Hereditary disorder of the visual system(parent)

Severe myopia(parent)

Congenital ectopic lens(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 717915004
UMLS CUI: C4303549
Fully Specified Name: Blepharoptosis, myopia, ectopia lentis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.