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Oculocutaneous albinism type 5

disorder
SNOMED 722057000CUI C3888401

Overview

Oculocutaneous albinism type 5 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 fundus morphology
Always present (100%)HP:0001098
Albinism, Ocular
Always present (100%)HP:0001107
Decreased visual acuity
Always present (100%)HP:0007663
Foveal hypoplasia
Always present (100%)HP:0007750
High arched palate
Always present (100%)HP:0000218
Photophobia
Always present (100%)HP:0000613
Achromasia
HP:0001022
Involuntary, rapid, rhythmic eye movements
HP:0000639

Quick Facts

SNOMED CT
722057000
UMLS CUI
C3888401
Fully Specified Name
Oculocutaneous albinism type 5 (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.