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Deafness with cataract and skeletal anomaly syndrome
disorderSNOMED 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.