Pili torti-deafness syndrome

disorder

SNOMED 67817003CUI C0266006

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.

Sweating dysfunction

Always present (100%)HP:0000970

Brittle hair

Very frequent (80-99%)HP:0002299

Hair loss

Very frequent (80-99%)HP:0001596

Pili torti

Very frequent (80-99%)HP:0003777

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Sparse body hair

Very frequent (80-99%)HP:0002231

Sparse or absent eyebrows

Very frequent (80-99%)HP:0100840

Anomaly of the testes

Frequent (30-79%)HP:0000035

Eye disease

Frequent (30-79%)HP:0000478

Fine hair

Frequent (30-79%)HP:0002213

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Decreased activity of gonads

Occasional (5-29%)HP:0000135

Nonprogressive mental retardation

Occasional (5-29%)HP:0001249

Coarse hair texture

HP:0002208

Dry hair

HP:0011359

Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes

HP:0003329

Related Conditions

Pili torti(parent)

Hereditary disorder of the integument(parent)

Developmental hereditary disorder(parent)

Congenital sensorineural hearing loss(parent)

Genetic defect of hair shaft(parent)

Hereditary hearing loss(parent)

Autosomal hereditary disorder(parent)

Quick Facts

SNOMED CT: 67817003
UMLS CUI: C0266006
Fully Specified Name: Björnstad syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.