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Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome

disorder
SNOMED 722450007CUI C2931588

Overview

Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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
Decreased body height
Very frequent (80-99%)HP:0004322
Glaucoma
Very frequent (80-99%)HP:0000501

Related Conditions

Autosomal dominant hereditary disorder(parent)
Multiple system malformation syndrome(parent)
Congenital glaucoma(parent)
Small stature(parent)
Hereditary disorder of the visual system(parent)
Microspherophakia(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
722450007
UMLS CUI
C2931588
Fully Specified Name
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
3
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.