Spongy degeneration of central nervous system

disorder

SNOMED 80544005CUI C0206307

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.

Corticospinal signs

Always present (100%)HP:0007256

Elevated brain N-acetyl aspartate level by MRS

Always present (100%)HP:0025053

Reduced aspartoacylase activity in cultured fibroblasts

Always present (100%)HP:6000354

Disturbances of consciousness

Very frequent (80-99%)HP:0004372

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Intellectual impairment

Very frequent (80-99%)HP:0100543

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Optic atrophy

Very frequent (80-99%)HP:0000648

Abnormal visual evoked responses

Frequent (30-79%)HP:0000649

Big calvaria

Frequent (30-79%)HP:0000256

Deafness

Frequent (30-79%)HP:0000365

Elevated urine N-acetylaspartic acid level

Frequent (30-79%)HP:0034649

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Legal blindness

Frequent (30-79%)HP:0000618

Multifocal EEG abnormality

Frequent (30-79%)HP:0010841

Muscular hypotonia

Frequent (30-79%)HP:0001252

Poor vision

Frequent (30-79%)HP:0000505

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Decreased size of cranium

Occasional (5-29%)HP:0000252

Flexion contractures

Occasional (5-29%)HP:0001371

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Loss of milestones

Occasional (5-29%)HP:0002376

Retinal pigmentary anomaly

Occasional (5-29%)HP:0007703

Seizures

Occasional (5-29%)HP:0001250

West syndrome

Occasional (5-29%)HP:0011097

Arc de cercle

HP:0002179

Brain degeneration

HP:0012444

Related Conditions

Disorder of amino acid and organic acid metabolism(parent)

Leucodystrophy(parent)

Hereditary degenerative disease of central nervous system(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 80544005
UMLS CUI: C0206307
Fully Specified Name: Spongy degeneration of central nervous system (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.