Ocular albinism with late-onset sensorineural deafness

disorder

SNOMED 722054007CUI C1845069

Overview

Ocular albinism with late-onset sensorineural deafness 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.

Albinism, Ocular

Very frequent (80-99%)HP:0001107

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Photophobia

Very frequent (80-99%)HP:0000613

Poor vision

Very frequent (80-99%)HP:0000505

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Squint

Frequent (30-79%)HP:0000486

Achromasia

HP:0001022

Adult onset sensorineural hearing impairment

HP:0008615

Giant melanosomes in melanocytes

HP:0005592

Hypopigmentation of the fundus

HP:0007894

Nystagmus-induced head nodding

HP:0001361

Related Conditions

Ocular albinism(parent)

X-linked recessive hereditary disease(parent)

Acquired sensorineural hearing loss(parent)

X-linked sensorineural hearing loss(parent)

Quick Facts

SNOMED CT: 722054007
UMLS CUI: C1845069
Fully Specified Name: Ocular albinism with late-onset sensorineural deafness (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.