Black locks, oculocutaneous albinism, AND deafness of the sensorineural type

disorder

SNOMED 10170007CUI C0268501

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.

Blonde eyelashes

Always present (100%)HP:0002227

Blotchy loss of skin colour

Always present (100%)HP:0001045

Grey eyebrow

Always present (100%)HP:0002226

Mental retardation, mild

Always present (100%)HP:0001256

Patchy hyperpigmentation

Always present (100%)HP:0005585

Sensorineural deafness

Always present (100%)HP:0000407

White hair

Always present (100%)HP:0011364

Abnormal iris pigmentation

Excluded (<1%)HP:0008034

Related Conditions

Oculocutaneous albinism(parent)

Hearing loss associated with syndrome(parent)

Congenital sensorineural hearing loss(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 10170007
UMLS CUI: C0268501
Fully Specified Name: Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (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.