Albinism-deafness syndrome of Tietz

disorder

SNOMED 403805009CUI C0391816

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.

Blue irides

Always present (100%)HP:0000635

Congenital neurosensory deafness

Always present (100%)HP:0008527

Fair skin

Always present (100%)HP:0007513

Grey eyelashes

Always present (100%)HP:0002227

Hypopigmentation of the fundus

Always present (100%)HP:0007894

Abnormal skin colour

Very frequent (80-99%)HP:0001000

Anterior chamber anomalies

Very frequent (80-99%)HP:0000593

Grey eyebrow

Very frequent (80-99%)HP:0002226

Hypoacusis

Very frequent (80-99%)HP:0000365

Hypopigmentation of hair

Very frequent (80-99%)HP:0005599

Hypopigmentation of the skin

Very frequent (80-99%)HP:0001010

Heterochromia iridis

Excluded (<1%)HP:0001100

Related Conditions

Albinism(parent)

Autosomal dominant hereditary disorder(parent)

Sensorineural hearing loss of bilateral ears(parent)

Congenital sensorineural hearing loss(parent)

Profound sensorineural hearing loss(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 403805009
UMLS CUI: C0391816
Fully Specified Name: Albinism-deafness syndrome of Tietz (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.