Spinocerebellar degeneration co-occurrent with macular corneal dystrophy

disorder

SNOMED 715465001CUI C1849085

Overview

Spinocerebellar degeneration co-occurrent with macular corneal dystrophy 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.

Ataxia

Very frequent (80-99%)HP:0001251

Congenital cataracts, bilateral

Very frequent (80-99%)HP:0000519

Corneal dystrophy

Very frequent (80-99%)HP:0001131

Near sighted

Very frequent (80-99%)HP:0000545

Spastic ataxia

Very frequent (80-99%)HP:0002497

Abnormal electromyography finding

Frequent (30-79%)HP:0003457

Cerebellar hypoplasia/atrophy

Frequent (30-79%)HP:0007360

Decreased circulating immunoglobulin concentration

Frequent (30-79%)HP:0004313

Gait disturbance

Frequent (30-79%)HP:0001288

Optic atrophy

Frequent (30-79%)HP:0000648

Paralysis or weakness of one side of body

Frequent (30-79%)HP:0004374

Spinocerebellar tract degeneration

Frequent (30-79%)HP:0002503

Related Conditions

Macular corneal dystrophy(parent)

Spinocerebellar disease(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 715465001
UMLS CUI: C1849085
Fully Specified Name: Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (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.