Alport syndrome X-linked

disorder

SNOMED 717768004CUI C1567742

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.

Reduced epidermal collagen IV alpha 5 chain staining

Very frequent (80-99%)HP:6001026

Anterior lenticonus

HP:0011501

Cataract, congenital

HP:0000519

Corneal erosion

HP:0200020

Diffuse leiomyomatosis

HP:0006756

End-stage renal disease

HP:0003774

Glomerular basement membrane lamellation

HP:0030034

High blood pressure

HP:0000822

Hypoparathyroidism

HP:0000829

Ichthyosiform abnormality of the skin

HP:0008064

Lenticonus

HP:0001142

Low platelet count

HP:0001873

Microhematuria

HP:0002907

Near sighted

HP:0000545

Nephritis

HP:0000123

Nephrosis

HP:0000100

Proteinuria

HP:0000093

Renal insufficiency

HP:0000083

Sensorineural deafness

HP:0000407

Thickened glomerular basement membrane

HP:0004722

Related Conditions

X-linked diffuse leiomyomatosis with Alport syndrome(child)

Alport syndrome(parent)

X-linked dominant hereditary disease(parent)

X-linked sensorineural hearing loss(parent)

Quick Facts

SNOMED CT: 717768004
UMLS CUI: C1567742
Fully Specified Name: Alport syndrome X-linked (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.