Spastic paraplegia, nephritis, deafness syndrome

disorder

SNOMED 733089005CUI C2931667

Overview

Spastic paraplegia, nephritis, 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

Gait disturbance

Very frequent (80-99%)HP:0001288

Increased reflexes

Very frequent (80-99%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Kidney disease

Very frequent (80-99%)HP:0000112

Leg paralysis

Very frequent (80-99%)HP:0010550

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Proteinuria

Very frequent (80-99%)HP:0000093

Sensorineural deafness

Very frequent (80-99%)HP:0000407

High blood pressure

Frequent (30-79%)HP:0000822

Curvature of little finger

Occasional (5-29%)HP:0004209

Short stature, severe

Occasional (5-29%)HP:0003510

Related Conditions

Hearing loss associated with syndrome(parent)

Hereditary nephropathy(parent)

Congenital sensorineural hearing loss(parent)

Chronic disorder of genitourinary system(parent)

Chronic deafness(parent)

Autosomal dominant complex hereditary spastic paraplegia(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 733089005
UMLS CUI: C2931667
Fully Specified Name: Spastic paraplegia, nephritis, deafness syndrome (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.