Overview
Familial acute necrotizing encephalopathy 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.
Acute encephalopathy
Very frequent (80-99%)HP:0006846
Elevated csf protein
Very frequent (80-99%)HP:0002922
Persistent vegetative state
Very frequent (80-99%)HP:0001259
Abnormal brainstem MRI signal intensity
Frequent (30-79%)HP:0012747
Abnormal putamen morphology
Frequent (30-79%)HP:0031982
Abnormal respiratory patterns
Frequent (30-79%)HP:0002793
Abnormal thalamus morphology
Frequent (30-79%)HP:0010663
Abnormal visual fixation
Frequent (30-79%)HP:0025404
Abnormality of brainstem morphology
Frequent (30-79%)HP:0002363
Brain swelling
Frequent (30-79%)HP:0002181
Choroidal haemorrhage
Frequent (30-79%)HP:0011887
Developmental regression
Frequent (30-79%)HP:0002376
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dull intelligence
Frequent (30-79%)HP:0001249
Epilepsy
Frequent (30-79%)HP:0001250
Excess astrocytes in brain
Frequent (30-79%)HP:0002171
Gait disturbance
Frequent (30-79%)HP:0001288
Hypertonia
Frequent (30-79%)HP:0001276
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Muscle rigidity
Frequent (30-79%)HP:0002063
Muscle weakness, generalised
Frequent (30-79%)HP:0003324
Pyrexia
Frequent (30-79%)HP:0001945
Spastic quadriplegia
Frequent (30-79%)HP:0002510
Vomiting
Frequent (30-79%)HP:0002013
Quick Facts
- SNOMED CT
- 723359002
- UMLS CUI
- C4509836
- Fully Specified Name
- Familial acute necrotizing encephalopathy (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.