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Combined deficiency of sialidase AND beta galactosidase
disorderSNOMED 35691006CUI C0268233
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Abnormality of the vertebral column
Very frequent (80-99%)HP:0000925
Coarse face
Very frequent (80-99%)HP:0000280
Corneal opacity
Very frequent (80-99%)HP:0007957
Deafness
Very frequent (80-99%)HP:0000365
Epilepsy
Very frequent (80-99%)HP:0001250
Macular cherry red spot
Very frequent (80-99%)HP:0010729
Poor school performance
Very frequent (80-99%)HP:0001249
Vertebral anomalies
Very frequent (80-99%)HP:0003468
Hepatosplenomegaly
Occasional (5-29%)HP:0001433
Beta-galactosidase deficiency in fibroblasts and white blood cells
HP:0008166
Corneal stromal opacity
HP:0007759
Dysostosis multiplex
HP:0000943
Hemangiomata
HP:0001028
Nonimmune hydrops fetalis
HP:0001790
Short stature, severe
HP:0003510
Small dilated blood vessels near membrane covering front of eye and eyelids
HP:0000524
Visceromegaly
HP:0003271
Related Conditions
Dysostosis multiplex group(parent)
Hereditary disorder of the visual system(parent)
Oligosaccharidosis(parent)
Macular disease(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Inherited metabolic disorder of nervous system(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Quick Facts
- SNOMED CT
- 35691006
- UMLS CUI
- C0268233
- Fully Specified Name
- Combined deficiency of sialidase AND beta galactosidase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.