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Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome

disorder
SNOMED 1172590009CUI C5567452

Overview

Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia 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.

Amyotrophy involving the upper limbs
Frequent (30-79%)HP:0009129
Delayed gross motor development
Frequent (30-79%)HP:0002194
Difficulty running
Frequent (30-79%)HP:0009046
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Lower limb amyotrophy
Frequent (30-79%)HP:0007210
Lower limb hyperreflexia
Frequent (30-79%)HP:0002395
Muscle spasm
Frequent (30-79%)HP:0003394
Pain
Frequent (30-79%)HP:0012531
Progressive spastic paraplegia
Frequent (30-79%)HP:0007020
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Spasticity of lower limb
Frequent (30-79%)HP:0002061
Standing instability
Frequent (30-79%)HP:0003698
Walking on tiptoes
Frequent (30-79%)HP:0030051
Wasting of the tongue
Frequent (30-79%)HP:0012473
Deglutition disorder
Occasional (5-29%)HP:0002015
Extensor plantar responses
Occasional (5-29%)HP:0003487
Flexion contractures of knees
Occasional (5-29%)HP:0006380
Nonprogressive mental retardation
Occasional (5-29%)HP:0001249

Quick Facts

SNOMED CT
1172590009
UMLS CUI
C5567452
Fully Specified Name
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
19
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.