Azorean disease

disorder

SNOMED 91952008CUI C0024408

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Ataxia

Always present (100%)HP:0001251

Clumsiness

Very frequent (80-99%)HP:0002312

Corticospinal signs

Very frequent (80-99%)HP:0007256

Delayed language development

Very frequent (80-99%)HP:0000750

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Double vision

Very frequent (80-99%)HP:0000651

Dystonic movements

Very frequent (80-99%)HP:0001332

External ophthalmoplegia, progressive

Very frequent (80-99%)HP:0000590

Extrapyramidal dysfunction

Very frequent (80-99%)HP:0002071

Increased reflexes

Very frequent (80-99%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Muscle degeneration

Very frequent (80-99%)HP:0003202

Progressive cerebellar ataxia

Very frequent (80-99%)HP:0002073

External ophthalmoplegia

Frequent (30-79%)HP:0000544

Gaze-evoked nystagmus

Frequent (30-79%)HP:0000640

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Autonomic dysregulation

Occasional (5-29%)HP:0012332

Body temperature changes

Occasional (5-29%)HP:0004370

Interictal vestibular dysfunction

Occasional (5-29%)HP:0001751

Muscle fasciculation

Occasional (5-29%)HP:0002380

Parkinsonian disease

Occasional (5-29%)HP:0001300

Vocal cord paralysis

Occasional (5-29%)HP:0001605

Abnormal electrooculogram

HP:0030454

Absent Achilles reflex

HP:0003438

Appendicular ataxia

HP:0002070

Chronic pain

HP:0012532

Degeneration of cerebellum

HP:0001272

Deglutition disorder

HP:0002015

Dilated fourth ventricle

HP:0002198

Distal muscle atrophy, upper and lower limbs

HP:0003693

Related Conditions

Azorean disease, type I(child)

Azorean disease, type II(child)

Azorean disease, type III(child)

Azorean disease, type IV(child)

Late onset cerebellar ataxia(parent)

Spinocerebellar ataxia(parent)

Quick Facts

SNOMED CT: 91952008
UMLS CUI: C0024408
Fully Specified Name: Azorean disease (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.