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Retinoblastoma

Orpha number ORPHA790
Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal dominant
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • C69.2
OMIM
UMLS
  • C0035335
MeSH
  • D012175
MedDRA
  • 10038916
SNOMED CT
  • 19906005
  • 370967009

Summary

Retinoblastoma (RB) is a malignant intraocular neoplasm that develops most often in children. Most RB are unilateral and non-hereditary (unilateral retinoblastoma, URB, see this term), whereas bilateral and multifocal unilateral RB are predominantly hereditary (familial retinoblastoma, FRB, see this term).


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Detailed information

Summary information
Review article
  • EN (2006)
Clinical practice guidelines
  • EN (2009,pdf)
  • FR (2009,pdf)
Guidance for genetic testing
  • EN (2010,pdf)
Article for general public
  • FR (2005,pdf)
Clinical genetics review
  • EN (2013)
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.