Oculocutaneous albinism type 1

disorder

SNOMED 765146000CUI C0268494

Overview

Oculocutaneous albinism type 1 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 morphology of the choroidal vasculature

Very frequent (80-99%)HP:0025568

Abnormal visual evoked responses

Very frequent (80-99%)HP:0000649

Blue irides

Very frequent (80-99%)HP:0000635

Cutaneous photosensitivity

Very frequent (80-99%)HP:0000992

Decreased visual acuity

Very frequent (80-99%)HP:0007663

Fair skin

Very frequent (80-99%)HP:0007513

Foveal hypoplasia

Very frequent (80-99%)HP:0007750

Generalised hypopigmentation of hair

Very frequent (80-99%)HP:0011358

Hypopigmentation of the fundus

Very frequent (80-99%)HP:0007894

Iris hypopigmentation

Very frequent (80-99%)HP:0007730

Iris transillumination defect

Very frequent (80-99%)HP:0012805

Optic nerve misrouting

Very frequent (80-99%)HP:0025551

Blonde eyebrow

Frequent (30-79%)HP:0002226

Grey eyelashes

Frequent (30-79%)HP:0002227

Wandering eye

Frequent (30-79%)HP:0000646

Pachydermia

Occasional (5-29%)HP:0001072

Skin cancer

Very rare (1-4%)HP:0008069

Solar keratosis

Very rare (1-4%)HP:0025127

Abnormal curving of the cornea or lens of the eye

HP:0000483

Abnormality of refraction

HP:0000539

Achromasia

HP:0001022

Albinism, Ocular

HP:0001107

Hypopigmentation of hair

HP:0005599

Involuntary, rapid, rhythmic eye movements

HP:0000639

Lack of skin coloration

HP:0200098

Near sighted

HP:0000545

Outward facing eye ball

HP:0000577

Photophobia

HP:0000613

Poor vision

HP:0000505

Squint

HP:0000486

Related Conditions

Oculocutaneous albinism(parent)

Quick Facts

SNOMED CT: 765146000
UMLS CUI: C0268494
Fully Specified Name: Oculocutaneous albinism type 1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.