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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.