Facial dysmorphism, conductive hearing loss, heart defect syndrome

disorder

SNOMED 763279007CUI C3554774

Overview

Facial dysmorphism, conductive hearing loss, heart defect 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.

Accessory nipples

HP:0002558

Anterior bulging of the globe of eye

HP:0000520

Atria septal defect

HP:0001631

Cleft of palate

HP:0000175

Cryptorchidism

HP:0000028

Decreased body height

HP:0004322

Eyelid ptosis

HP:0000508

Feeding difficulties

HP:0011968

High arched palate

HP:0000218

Hydramnios

HP:0001561

Hypoplasia of corpus callosum

HP:0002079

Intrauterine growth retardation, IUGR

HP:0001511

Low anterior hairline

HP:0000294

Low chest circumference

HP:0000774

Low-set ears

HP:0000369

Mental retardation, mild

HP:0001256

Narrow palate

HP:0000189

Narrow, high-arched roof of mouth

HP:0002705

Pectus excavatum

HP:0000767

Posteriorly angulated ears

HP:0000358

Premature birth

HP:0001622

Psychomotor development deficiency

HP:0001263

Pulmonary stenosis

HP:0001642

Short chin

HP:0000331

Sleep apnea

HP:0010535

Thick hair

HP:0100874

VSD

HP:0001629

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital heart disease(parent)

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

Cardiovascular system hereditary disorder(parent)

Congenital conductive hearing loss(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 763279007
UMLS CUI: C3554774
Fully Specified Name: Facial dysmorphism, conductive hearing loss, heart defect 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.