Upper limb defect with eye and ear abnormalities syndrome

disorder

SNOMED 716110002CUI C4274838

Overview

Upper limb defect with eye and ear abnormalities 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 antihelix morphology

Very frequent (80-99%)HP:0009738

Coloboma of choroid

Very frequent (80-99%)HP:0000567

Hypoacusis

Very frequent (80-99%)HP:0000365

Hypoplasia of the antihelix

Very frequent (80-99%)HP:0009739

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Retarded ossification

Very frequent (80-99%)HP:0002750

Shortened long bones of hand

Very frequent (80-99%)HP:0010049

Thumb hypoplasia

Very frequent (80-99%)HP:0009778

Cataract

Frequent (30-79%)HP:0000518

Cryptorchidism

Frequent (30-79%)HP:0000028

Palpebronasal fold

Frequent (30-79%)HP:0000286

Related Conditions

Congenital anomaly of eye(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital malformation of ear(parent)

Auditory system hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716110002
UMLS CUI: C4274838
Fully Specified Name: Upper limb defect with eye and ear abnormalities syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.