Deafness with cataract and skeletal anomaly syndrome

disorder

SNOMED 716170005CUI C1850626

Overview

Deafness with cataract and skeletal anomaly 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 heart rate

Very frequent (80-99%)HP:0011675

Decreased body height

Very frequent (80-99%)HP:0004322

Lens opacities

Very frequent (80-99%)HP:0000518

Sensorineural deafness

Very frequent (80-99%)HP:0000407

EKG abnormality

HP:0003115

Genitourinary dysplasia

HP:0000119

Hearing impairment

HP:0000365

Muscle degeneration

HP:0003202

Retarded growth

HP:0001510

Related Conditions

Congenital anomaly of skeletal bone(parent)

Congenital cataract(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Sensorineural hearing loss(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 716170005
UMLS CUI: C1850626
Fully Specified Name: Deafness with cataract and skeletal anomaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.