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Hypertelorism, preauricular sinus, punctual pits, deafness syndrome
disorderSNOMED 773667003CUI C4751125
Overview
Hypertelorism, preauricular sinus, punctual pits, deafness 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.
Nasolacrimal duct obstruction
Occasional (5-29%)HP:0000579
Shawl scrotum
Occasional (5-29%)HP:0000049
Deafness
HP:0000365
Increased distance between eyes
HP:0000316
Preauricular sinus
HP:0004467
Related Conditions
Autosomal dominant hereditary disorder(parent)
Orbital hypertelorism(parent)
Hearing loss associated with syndrome(parent)
Congenital preauricular fistula(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple system malformation syndrome(parent)
Disorder of ear(parent)
Congenital hearing disorder(parent)
Developmental hereditary disorder(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 773667003
- UMLS CUI
- C4751125
- Fully Specified Name
- Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 5
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.