Hereditary diffuse leukoencephalopathy with axonal spheroids

disorder

SNOMED 702427005CUI C3711381

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.

Atrophy of the corpus callosum

Always present (100%)HP:0007371

Deglutition disorder

Always present (100%)HP:0002015

Difficulty articulating speech

Always present (100%)HP:0001260

Epilepsy

Always present (100%)HP:0001250

Gait disturbance

Always present (100%)HP:0001288

Generalised brain degeneration

Always present (100%)HP:0002283

Impaired executive functioning

Always present (100%)HP:0033051

Memory loss

Always present (100%)HP:0002354

Parkinsonian disease

Always present (100%)HP:0001300

Delusions

Frequent (30-79%)HP:0000746

Hearing sounds

Frequent (30-79%)HP:0008765

Sensory impairment

Frequent (30-79%)HP:0003474

Apraxia

HP:0002186

Behavioural disorders

HP:0000708

Central nervous system axonal spheroid

HP:0034381

Cortical white matter abnormalities seen on MRI

HP:0002500

Demyelination in central white matter

HP:0007305

Depressive episode

HP:0000716

Excess astrocytes in brain

HP:0002171

Frontal lobe dementia

HP:0000727

Imbalance

HP:0002172

Increased reflexes

HP:0001347

Intellectual deterioration

HP:0001268

Involuntary muscle stiffness, contraction, or spasm

HP:0001257

Leukoencephalopathy

HP:0002352

Muscle rigidity

HP:0002063

Mutism

HP:0002300

Neuronal loss in CNS

HP:0002529

Shuffled walk

HP:0002362

Slowness of movements

HP:0002067

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Leukoencephalopathy(parent)

Quick Facts

SNOMED CT: 702427005
UMLS CUI: C3711381
Fully Specified Name: Hereditary diffuse leukoencephalopathy with spheroids (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.