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Fried syndrome

disorder
SNOMED 718848000CUI C4305134

Overview

Fried 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
Central hypotonia
Very frequent (80-99%)HP:0001252
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Moderate mental retardation
Very frequent (80-99%)HP:0002342
Nonsyndromal hydrocephalus
Very frequent (80-99%)HP:0000238
Poor speech
Very frequent (80-99%)HP:0002465
Spastic diparesis
Very frequent (80-99%)HP:0001264
ASD
Frequent (30-79%)HP:0000729
Coarse face
Frequent (30-79%)HP:0000280
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Gait disturbance
Frequent (30-79%)HP:0001288
High arched palate
Frequent (30-79%)HP:0000218
Large pinnae
Frequent (30-79%)HP:0000400
physical aggression
Frequent (30-79%)HP:0000718
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Cerebellar signs
Occasional (5-29%)HP:0001317
Deafness
Occasional (5-29%)HP:0000365
Increased thickness of cranium
Occasional (5-29%)HP:0002684
Muscle wasting
Occasional (5-29%)HP:0003202
optic nerve abnormalities
Occasional (5-29%)HP:0000587

Quick Facts

SNOMED CT
718848000
UMLS CUI
C4305134
Fully Specified Name
Fried syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
21
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.