Brown oculocutaneous albinism

disorder

SNOMED 11160000CUI C0268497

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Albinism

HP:0001022

Blue irides

HP:0000635

Decreased visual acuity

HP:0007663

Foveal hypoplasia

HP:0007750

Freckles in sun-exposed areas

HP:0007603

Ginger hair colour

HP:0002297

Hypopigmentation of hair

HP:0005599

Hypopigmentation of the fundus

HP:0007894

Hypopigmentation of the skin

HP:0001010

Involuntary, rapid, rhythmic eye movements

HP:0000639

Near sighted

HP:0000545

Outward facing eye ball

HP:0000577

Poor vision

HP:0000505

Squint

HP:0000486

Related Conditions

Tyrosinase-positive oculocutaneous albinism(parent)

Quick Facts

SNOMED CT: 11160000
UMLS CUI: C0268497
Fully Specified Name: Brown oculocutaneous albinism (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.