Albinism with deafness syndrome

disorder

SNOMED 722285005CUI C1845068

Overview

Albinism with deafness syndrome 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 vocalization

Very frequent (80-99%)HP:0002167

Hypopigmented skin patches

Very frequent (80-99%)HP:0001053

Irregular hyperpigmentation

Very frequent (80-99%)HP:0007400

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Partial absent skin pigmentation

Frequent (30-79%)HP:0007443

Piebald skin depigmentation

Frequent (30-79%)HP:0007544

Heterochromia iridis

Occasional (5-29%)HP:0001100

Achromasia

HP:0001022

Albinism, Ocular

Excluded (<1%)HP:0001107

Bilateral congenital sensorineural deafness

HP:0008527

Patchy hypo- and hyper-pigmentation

HP:0007509

Related Conditions

X-linked recessive hereditary disease(parent)

Congenital sensorineural hearing loss(parent)

Hereditary disorder of nervous system(parent)

Neural hearing loss(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 722285005
UMLS CUI: C1845068
Fully Specified Name: Albinism with deafness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.