Progressive sclerosing poliodystrophy

disorder

SNOMED 20415001CUI C0205710

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.

Cortical blindness

Always present (100%)HP:0100704

Supratentorial atrophy

Always present (100%)HP:0002059

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormality of movement

Frequent (30-79%)HP:0100022

Abnormality of vision

Frequent (30-79%)HP:0000504

Absence status epilepticus

Frequent (30-79%)HP:0032860

Absent tendon reflexes

Frequent (30-79%)HP:0001284

Acute liver failure

Frequent (30-79%)HP:0006554

Anasarca

Frequent (30-79%)HP:0012050

Ataxia

Frequent (30-79%)HP:0001251

Central hypotonia

Frequent (30-79%)HP:0001252

Choreoathetoid movements

Frequent (30-79%)HP:0001266

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased size of cranium

Frequent (30-79%)HP:0000252

Encephalopathy

Frequent (30-79%)HP:0001298

Excess astrocytes in brain

Frequent (30-79%)HP:0002171

Floppy windpipe

Frequent (30-79%)HP:0002779

Focal seizures

Frequent (30-79%)HP:0007359

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hepatic insufficiency

Frequent (30-79%)HP:0001399

Hypertonia

Frequent (30-79%)HP:0001276

Increased blood lactate

Frequent (30-79%)HP:0002151

Increased liver function tests

Frequent (30-79%)HP:0002910

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Jerking

Frequent (30-79%)HP:0001336

Kojevnikov's epilepsia

Frequent (30-79%)HP:0012847

Localized myoclonic seizure

Frequent (30-79%)HP:0011166

Loss of acquired milestones

Frequent (30-79%)HP:0002376

Related Conditions

Progressive neuronal degeneration of childhood(parent)

Hereditary degenerative disease of central nervous system(parent)

Quick Facts

SNOMED CT: 20415001
UMLS CUI: C0205710
Fully Specified Name: Progressive sclerosing poliodystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.