Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome

disorder

SNOMED 720640005CUI C1837822

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.

Bilateral blockage of the rear opening of the nasal cavity

Very frequent (80-99%)HP:0004502

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Notched lower eyelid

Very frequent (80-99%)HP:0000652

Short palpebral fissure

Very frequent (80-99%)HP:0012745

Convex bridge of nose

Frequent (30-79%)HP:0000426

Deafness

Frequent (30-79%)HP:0000365

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Heart septal defect

Frequent (30-79%)HP:0001671

Prominent ear

Frequent (30-79%)HP:0000411

Skin tag on the posterior cheek

Frequent (30-79%)HP:0000384

Abnormal palate morphology

Occasional (5-29%)HP:0000174

Abnormality of vision

Occasional (5-29%)HP:0000504

Decreased body height

Occasional (5-29%)HP:0004322

Eye disease

Occasional (5-29%)HP:0000478

Increased width of bridge of nose

Occasional (5-29%)HP:0000431

Inguinal hernia

Occasional (5-29%)HP:0000023

Narrow mouth

Occasional (5-29%)HP:0000160

Nasal hypoplasia

Occasional (5-29%)HP:0003196

Single kidney

Occasional (5-29%)HP:0000122

Uvula bifida

Occasional (5-29%)HP:0000193

Atria septal defect

HP:0001631

Bilateral choanal atresia/stenosis

HP:0200138

Blepharophimosis

HP:0000581

Choanal atresia

HP:0000453

Cleft of palate

HP:0000175

Cleft of upper lip

HP:0000204

Feeding difficulties in infancy

HP:0008872

Hearing loss, conductive

HP:0000405

Related Conditions

Congenital anomaly of skull(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Choanal atresia(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720640005
UMLS CUI: C1837822
Fully Specified Name: Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.