Familial Creutzfeldt-Jakob

disorder

SNOMED 715807002CUI C0751254

Overview

Familial Creutzfeldt-Jakob 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 visual behaviour for age

Frequent (30-79%)HP:0025152

Abnormality of vision

Frequent (30-79%)HP:0000504

Akinetic mutism

Frequent (30-79%)HP:0012672

Anxiety disease

Frequent (30-79%)HP:0000739

Autonomic dysregulation

Frequent (30-79%)HP:0012332

Central nervous system degeneration

Frequent (30-79%)HP:0007009

Clumsiness

Frequent (30-79%)HP:0002312

Corticospinal signs

Frequent (30-79%)HP:0007256

Depression

Frequent (30-79%)HP:0000716

Difficulty staying or falling asleep

Frequent (30-79%)HP:0100785

Diffuse spongiform leukoencephalopathy

Frequent (30-79%)HP:0006943

EEG with persistent abnormal rhythmic activity

Frequent (30-79%)HP:0010846

Emotional lability

Frequent (30-79%)HP:0000712

Epilepsy

Frequent (30-79%)HP:0001250

Excessive daytime somnolence

Frequent (30-79%)HP:0001262

Extensor plantar responses

Frequent (30-79%)HP:0003487

Focal T2 hyperintense basal ganglia lesion

Frequent (30-79%)HP:0007183

Forgetfullness

Frequent (30-79%)HP:0007017

Generalised brain degeneration

Frequent (30-79%)HP:0002283

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Increase in astrocyte number

Frequent (30-79%)HP:0002446

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Irritable mood

Frequent (30-79%)HP:0000737

Jerking

Frequent (30-79%)HP:0001336

Loss of facial expression

Frequent (30-79%)HP:0005327

Muscle weakness

Frequent (30-79%)HP:0001324

Neuronal loss in CNS

Frequent (30-79%)HP:0002529

Poor attention span

Frequent (30-79%)HP:0000736

Progressive cerebellar ataxia

Frequent (30-79%)HP:0002073

Progressive extrapyramidal muscular rigidity

Frequent (30-79%)HP:0007158

Related Conditions

Jakob-Creutzfeldt disease(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary degenerative disease of central nervous system(parent)

Quick Facts

SNOMED CT: 715807002
UMLS CUI: C0751254
Fully Specified Name: Familial Creutzfeldt-Jakob (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.