Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

disorder

SNOMED 723612001CUI C4509964

Overview

Spinal muscular atrophy, Dandy-Walker malformation, cataract 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.

Cataract

Very frequent (80-99%)HP:0000518

Cerebellar vermis hypoplasia

Very frequent (80-99%)HP:0001320

Dandy-Walker cyst

Very frequent (80-99%)HP:0001305

EMG: chronic denervation signs

Very frequent (80-99%)HP:0003444

Large cisterna magna

Very frequent (80-99%)HP:0002280

Lower limb muscle hypotrophy

Very frequent (80-99%)HP:0008944

Weakness of outermost muscles

Very frequent (80-99%)HP:0002460

Related Conditions

Dandy-Walker syndrome(parent)

Multiple system malformation syndrome(parent)

Distal spinal muscular atrophy(parent)

Congenital anterior polar cataract(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Chronic brain syndrome(parent)

Quick Facts

SNOMED CT: 723612001
UMLS CUI: C4509964
Fully Specified Name: Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.