Lymphedema, atrial septal defect, facial changes syndrome

disorder

SNOMED 721978002CUI C2677167

Overview

Lymphedema, atrial septal defect, facial changes 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.

Atria septal defect

HP:0001631

Atrial flutter

HP:0004749

Broad, upturned nose

HP:0000455

Decreased amniotic fluid index

HP:0001562

Decreased volume of upper lip

HP:0000219

Depressed nasal root/bridge

HP:0005280

High forehead

HP:0000348

Hydrocele testis

HP:0000034

Hydrops fetalis

HP:0001789

Hypoplastic toenails

HP:0001800

Increased intercanthal distance

HP:0000506

Mongoloid slant

HP:0000582

Omphalocoele

HP:0001539

Onset of lymphedema around puberty

HP:0001004

Overriding aortic valve

HP:0002623

Palpebronasal fold

HP:0000286

PDA

HP:0001643

Protruding forehead

HP:0011220

Round, full face

HP:0000311

Speech delay

HP:0000750

Vascular ring

HP:0010775

VSD

HP:0001629

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary lymphedema(parent)

Cardiovascular system hereditary disorder(parent)

Lymphoedema of lower extremity(parent)

Congenital atrial septal defect(parent)

Congenital anomaly of lower limb(parent)

Quick Facts

SNOMED CT: 721978002
UMLS CUI: C2677167
Fully Specified Name: Lymphedema, atrial septal defect, facial changes 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.