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Hemidystonia hemiatrophy syndrome

disorder
SNOMED 724383002CUI C4510649

Overview

Hemidystonia hemiatrophy 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.

Abnormal basal ganglia MRI signal intensity
Very frequent (80-99%)HP:0012751
Abnormality of the periventricular white matter
Very frequent (80-99%)HP:0002518
Dystonic movements
Very frequent (80-99%)HP:0001332
Hemiparesis
Very frequent (80-99%)HP:0001269
Abnormal delivery
Frequent (30-79%)HP:0001787
Asymmetric limb shortening
Frequent (30-79%)HP:0100556
Limb dystonia
Frequent (30-79%)HP:0002451
Abnormal paranasal sinus morphology
Occasional (5-29%)HP:0000245
Advanced pneumatization of cranial sinuses
Occasional (5-29%)HP:0010540
Corticospinal signs
Occasional (5-29%)HP:0007256
Dense skull cap
Occasional (5-29%)HP:0000250
Epilepsy
Occasional (5-29%)HP:0001250
Extensor plantar responses
Occasional (5-29%)HP:0003487
Delayed motor milestones
Very rare (1-4%)HP:0001270
Rhizomelic leg shortening
Very rare (1-4%)HP:0012106

Quick Facts

SNOMED CT
724383002
UMLS CUI
C4510649
Fully Specified Name
Hemidystonia hemiatrophy syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
15
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.