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Dystonia aphonia syndrome

disorder
SNOMED 782718007CUI C5190573

Overview

Dystonia aphonia 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.

Chewing difficulties
Very frequent (80-99%)HP:0005216
Deglutition disorder
Very frequent (80-99%)HP:0002015
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Gait disturbance
Very frequent (80-99%)HP:0001288
Generalised dystonia
Very frequent (80-99%)HP:0007325
Tongue muscle weakness
Very frequent (80-99%)HP:0000183
Abnormal mitochondrial shape
Frequent (30-79%)HP:0012087
Abnormal urinary odor
Frequent (30-79%)HP:0012088
Abnormality of the vocal cords
Frequent (30-79%)HP:0008777
Atrophic cerebellum
Frequent (30-79%)HP:0001272
Epilepsy
Frequent (30-79%)HP:0001250
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Loss of articulate speech
Frequent (30-79%)HP:0002425
Mixed demyelinating and axonal polyneuropathy
Frequent (30-79%)HP:0007327
Oromandibular dystonia
Frequent (30-79%)HP:0012048
Slowed horizontal saccades
Frequent (30-79%)HP:0007885
Supratentorial atrophy
Frequent (30-79%)HP:0002059
Unsteady walk
Frequent (30-79%)HP:0002317
Dysphonia
Occasional (5-29%)HP:0001618
Excessive, persistent worry and fear
Occasional (5-29%)HP:0000739
Gum enlargement
Occasional (5-29%)HP:0000212
Intellectual impairment
Occasional (5-29%)HP:0100543
Involuntary jerking movements
Occasional (5-29%)HP:0001336
Mental and motor retardation
Occasional (5-29%)HP:0001263

Quick Facts

SNOMED CT
782718007
UMLS CUI
C5190573
Fully Specified Name
Dystonia aphonia syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
24
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.