Fatal familial insomnia

disorder

SNOMED 83157008CUI C0206042

Overview

Fatal familial insomnia 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.

Autonomic dysregulation

Very frequent (80-99%)HP:0012332

Fragmented sleep

Very frequent (80-99%)HP:0100785

Jerking

Very frequent (80-99%)HP:0001336

Progressive dementia

Very frequent (80-99%)HP:0000726

Anxiety disease

Frequent (30-79%)HP:0000739

Ataxia

Frequent (30-79%)HP:0001251

Cognitive deficits

Frequent (30-79%)HP:0100543

Deglutition disorder

Frequent (30-79%)HP:0002015

Depression

Frequent (30-79%)HP:0000716

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Elevated heart rate

Frequent (30-79%)HP:0001649

Emotional lability

Frequent (30-79%)HP:0000712

Extrapyramidal syndrome

Frequent (30-79%)HP:0002071

Hallucinations

Frequent (30-79%)HP:0000738

High blood pressure

Frequent (30-79%)HP:0000822

Hyperhidrosis

Frequent (30-79%)HP:0000975

Increased lacrimation

Frequent (30-79%)HP:0009926

Internal-clock disorders

Frequent (30-79%)HP:0006979

Laryngeal stridor

Frequent (30-79%)HP:0006511

Mental slowness

Frequent (30-79%)HP:0031843

Reduced attention regulation

Frequent (30-79%)HP:5200044

Short rapid eye movement sleep

Frequent (30-79%)HP:5200360

Short term memory loss

Frequent (30-79%)HP:0033687

Sleep apnea

Frequent (30-79%)HP:0010535

Thalamic hypometabolism in FDG PET

Frequent (30-79%)HP:0012660

Abnormal pineal melatonin secretion

Occasional (5-29%)HP:0012689

Cerebral cortex with spongiform changes

Occasional (5-29%)HP:0006790

Corticospinal signs

Occasional (5-29%)HP:0007256

Dyschezia

Occasional (5-29%)HP:0002019

Hypercortisolism

Occasional (5-29%)HP:0003118

Related Conditions

Prion disease(parent)

Sleeplessness(parent)

Hereditary degenerative disease of central nervous system(parent)

Quick Facts

SNOMED CT: 83157008
UMLS CUI: C0206042
Fully Specified Name: Fatal familial insomnia (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.