Auricular abnormality, cleft lip, ocular abnormality syndrome

disorder

SNOMED 725149008CUI C4518478

Overview

Auricular abnormality, cleft lip, ocular abnormality 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.

Incomplete cleft of the upper lip

Very frequent (80-99%)HP:0011340

Oral cleft

Very frequent (80-99%)HP:0000202

Cervical ribs

Frequent (30-79%)HP:0000891

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Depressed philtrum

Frequent (30-79%)HP:0002002

Dysplastic ears

Frequent (30-79%)HP:0000377

Hunched back

Frequent (30-79%)HP:0002808

Hypopigmentation of the fundus

Frequent (30-79%)HP:0007894

Increased nuchal translucency

Frequent (30-79%)HP:0010880

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Intestinal malrotation

Frequent (30-79%)HP:0002566

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Low-set ears

Frequent (30-79%)HP:0000369

Near sighted

Frequent (30-79%)HP:0000545

optic nerve abnormalities

Frequent (30-79%)HP:0000587

Pectus excavatum

Frequent (30-79%)HP:0000767

Periauricular skin pits

Frequent (30-79%)HP:0100277

Retruded nasal dorsum

Frequent (30-79%)HP:0000457

Rhomboid shaped head

Frequent (30-79%)HP:0001357

Small nasal alae

Frequent (30-79%)HP:0000430

Visual loss

Frequent (30-79%)HP:0000572

Related Conditions

Cleft lip(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 725149008
UMLS CUI: C4518478
Fully Specified Name: Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.