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Oculocutaneous albinism type 8

disorder
SNOMED 1300116006CUI C5436929

Overview

Oculocutaneous albinism type 8 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.

Chorioretinal hypopigmentation
Always present (100%)HP:0040030
Decreased visual acuity
Always present (100%)HP:0007663
Hypopigmentation of hair
Always present (100%)HP:0005599
Hypopigmentation of the skin
Always present (100%)HP:0001010
Involuntary, rapid, rhythmic eye movements
Always present (100%)HP:0000639
Iris transillumination defect
Always present (100%)HP:0012805
Foveal hypoplasia
Frequent (30-79%)HP:0007750
Photophobia
Frequent (30-79%)HP:0000613

Quick Facts

SNOMED CT
1300116006
UMLS CUI
C5436929
Fully Specified Name
Oculocutaneous albinism type 8 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
8
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.