← Back to Conditions

Encephalopathy, intracerebral calcification, retinal degeneration syndrome

disorder

SNOMED 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.