Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

disorder

SNOMED 763615003CUI C4706520

Overview

Aortic arch anomaly, facial dysmorphism, 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.

Abnormality of the aortic arch

Very frequent (80-99%)HP:0012303

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Hooked nose

Very frequent (80-99%)HP:0000444

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Inverted triangular face

Very frequent (80-99%)HP:0000325

Large pinnae

Very frequent (80-99%)HP:0000400

Narrow mouth

Very frequent (80-99%)HP:0000160

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Overriding aortic valve

Very frequent (80-99%)HP:0002623

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Prominent nasal root

Very frequent (80-99%)HP:0000426

Rotting teeth

Very frequent (80-99%)HP:0000670

Unbalanced face

Very frequent (80-99%)HP:0000324

Arteriovenous malformation

Frequent (30-79%)HP:0100026

Decreased size of cranium

Frequent (30-79%)HP:0000252

Abnormality of the hips

Occasional (5-29%)HP:0003272

Behavioural/Psychiatric abnormality

Occasional (5-29%)HP:0000708

Central hypotonia

Occasional (5-29%)HP:0001252

Genua vara

Occasional (5-29%)HP:0002970

Increased size of mandible

Occasional (5-29%)HP:0000303

Small for gestational age infant

Occasional (5-29%)HP:0001511

Small malar bone

Occasional (5-29%)HP:0010669

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Right aortic arch(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763615003
UMLS CUI: C4706520
Fully Specified Name: Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.