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Familial adenomatous polyposis due to 5q22.2 microdeletion

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ORPHA:261584

Classification level: Subtype of disorder

Synonym(s):
  • Colorectal adenomatous polyposis due to monosomy 5q22.2
  • FAP due to monosomy 5q22.2
  • Familial adenomatous polyposis due to del(5)(q22.2)
  • Familial adenomatous polyposis due to monosomy 5q22.2
  • Familial polyposis coli due to monosomy 5q22.2

Prevalence: -

Inheritance: Not applicable

Age of onset: Adult

ICD-10: D12.6

ICD-11: 2B90.Y

UMLS: C5548205

Summary

This disease is described under Familial adenomatous polyposis

Detailed information
General public
Article for general public
Deutsch (2018.pdf) - Familienhilfe Polyposis Coli e.V
Guidelines
Clinical practice guidelines
English (2019) - Endoscopy Logo ERN
English (2012) - J Pediatr Hematol Oncol
Disease review articles
Clinical genetics review
English (2022) - GeneReviews
Patient-Centered Outcome Measures (PCOMs)
Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLIDTM
Genetic testing
Guidance for genetic testing
English (2011) - Eur J Hum Genet

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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