Imperforate oropharynx, costovertebral anomalies syndrome

disorder

SNOMED 771185000CUI C4749770

Overview

Imperforate oropharynx, costovertebral anomalies 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.

Abnormal mouth

Very frequent (80-99%)HP:0000153

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Abnormality of the pharynx

Very frequent (80-99%)HP:0000600

Abnormality of the philtrum

Very frequent (80-99%)HP:0000288

Difficulty breathing

Very frequent (80-99%)HP:0002094

Hemivertebra

Very frequent (80-99%)HP:0002937

Laboured breathing

Very frequent (80-99%)HP:0002098

Low-set ears

Very frequent (80-99%)HP:0000369

Malformation of lip

Very frequent (80-99%)HP:0000159

Missing ribs

Very frequent (80-99%)HP:0000921

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Respiratory failure

Very frequent (80-99%)HP:0002878

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Rib anomalies

Very frequent (80-99%)HP:0000772

Abnormal antitragus morphology

Frequent (30-79%)HP:0009896

Aplasia/Hypoplasia of the tongue

Frequent (30-79%)HP:0010295

Arachnodactyly

Frequent (30-79%)HP:0001166

Choanal atresia

Frequent (30-79%)HP:0000453

Curvature of little finger

Frequent (30-79%)HP:0004209

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Hydramnios

Frequent (30-79%)HP:0001561

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Long palm

Frequent (30-79%)HP:0011302

Loose-jointedness

Frequent (30-79%)HP:0001382

Overfolded helix

Frequent (30-79%)HP:0000396

Palpebronasal fold

Frequent (30-79%)HP:0000286

Premature birth

Frequent (30-79%)HP:0001622

Related Conditions

Multiple system malformation syndrome(parent)

Congenital atresia of pharynx(parent)

Congenital anomaly of rib(parent)

Oropharyngeal lesion(parent)

Dysostosis(parent)

Congenital anomaly of head(parent)

Spinal dysplasia(parent)

Congenital thoracic dysplasia(parent)

Quick Facts

SNOMED CT: 771185000
UMLS CUI: C4749770
Fully Specified Name: Imperforate oropharynx, costovertebral anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.