← Back to Conditions
Encephalopathy, intracerebral calcification, retinal degeneration syndrome
disorderSNOMED 733049004CUI C4518560
Overview
Encephalopathy, intracerebral calcification, retinal degeneration syndrome 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 deposits of calcium in the brain
Very frequent (80-99%)HP:0002514
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased response to growth hormone stimulation test
Very frequent (80-99%)HP:0000824
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Turridolichocephaly
Very frequent (80-99%)HP:0000268
Hypoplastic mandible condyle
Occasional (5-29%)HP:0000347
Impaired vision
Occasional (5-29%)HP:0000505
Related Conditions
Cerebral calcification(parent)
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Degeneration of retina(parent)
Hereditary disorder of the visual system(parent)
Congenital anomaly of retina(parent)
Congenital anomaly of cerebrum(parent)
Hereditary degenerative disease of central nervous system(parent)
Congenital degeneration of nervous system(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 733049004
- UMLS CUI
- C4518560
- Fully Specified Name
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 11
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.