← Back to Conditions
Auditory neuropathy, optic atrophy syndrome
disorderSNOMED 1222649004CUI C4521678
Overview
Auditory neuropathy, optic atrophy 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.
Deafness
Always present (100%)HP:0000365
Optic atrophy
Always present (100%)HP:0000648
Poor vision
Always present (100%)HP:0000505
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Rod-cone dystrophy
Occasional (5-29%)HP:0000510
Related Conditions
Hereditary degenerative disease of central nervous system(parent)
Hearing loss associated with syndrome(parent)
Mitochondrial cytopathy(parent)
Inherited optic neuropathy(parent)
Optic atrophy(parent)
Recessive hereditary disorder (autosomal)(parent)
Disorder of acoustic nerve(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 1222649004
- UMLS CUI
- C4521678
- Fully Specified Name
- Auditory neuropathy, optic atrophy 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.