Spastic paraplegia, neuropathy, poikiloderma syndrome

disorder

SNOMED 763402002CUI C4706448

Overview

Spastic paraplegia, neuropathy, poikiloderma 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.

Basal lamina onion bulb formation

Frequent (30-79%)HP:0003400

Ciliary Madarosis

Frequent (30-79%)HP:0011457

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Poikiloderma

Frequent (30-79%)HP:0001029

Progressive spastic paraplegia

Frequent (30-79%)HP:0007020

Spastic walk

Frequent (30-79%)HP:0002064

Related Conditions

Autosomal dominant complex hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 763402002
UMLS CUI: C4706448
Fully Specified Name: Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.