Uveal coloboma with cleft lip and palate and intellectual disability syndrome

disorder

SNOMED 719042007CUI C4305003

Overview

Uveal coloboma with cleft lip and palate and intellectual disability 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.

Chorioretinal coloboma

Very frequent (80-99%)HP:0000567

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Abnormally small eyeball

Frequent (30-79%)HP:0000568

Dull intelligence

Frequent (30-79%)HP:0001249

High urine occult blood

Frequent (30-79%)HP:0000790

Iris coloboma

Frequent (30-79%)HP:0000612

Cataract

Occasional (5-29%)HP:0000518

Corneal opacity

Occasional (5-29%)HP:0007957

Eye drop

Occasional (5-29%)HP:0000508

Glaucoma

Occasional (5-29%)HP:0000501

Impaired vision

Occasional (5-29%)HP:0000505

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Optic atrophy

Occasional (5-29%)HP:0000648

Posterior embryotoxon

Occasional (5-29%)HP:0000627

Retinal detachment

Occasional (5-29%)HP:0000541

Squint

Occasional (5-29%)HP:0000486

Related Conditions

Autosomal dominant hereditary disorder(parent)

Cleft palate with cleft lip(parent)

Multiple system malformation syndrome(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Congenital coloboma of iris(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719042007
UMLS CUI: C4305003
Fully Specified Name: Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.