Complete trisomy 18 syndrome

disorder

SNOMED 51500006CUI C0152096

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bifid tip of nose

HP:0000456

Broad, upturned nose

HP:0000455

Cleft of palate

HP:0000175

Decreased body height

HP:0004322

Hamartoma

HP:0010566

High arched palate

HP:0000218

Hypoplasia of the epiglottis

HP:0005349

Increased distance between eyes

HP:0000316

Increased intercanthal distance

HP:0000506

Mental and motor retardation

HP:0001263

Midline cleft lip

HP:0000161

Milia

HP:0001056

Polydactyly

HP:0010442

Recurrent aspiration pneumonia

HP:0002100

Short skankbone

HP:0005736

Squint

HP:0000486

Syndactyly

HP:0001159

Related Conditions

Trisomy 18 - meiotic nondisjunction(child)

Trisomy 18 - mitotic nondisjunction mosaicism(child)

Anomaly of chromosome pair 18(parent)

Trisomy and partial trisomy of autosome(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 51500006
UMLS CUI: C0152096
Fully Specified Name: Complete trisomy 18 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.