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'serrated' polyposissyndroom (aandoening)
'serrated' polyposissyndroom
HPS
hyperplastische-polyposissyndroom
SPS
Hyperplastic polyposis syndrome
Serrated polyposis
A rare genetic intestinal disease with the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. There is evidence this disease is caused by heterozygous mutation in the RNF43 gene on chromosome 17q22.
Id763536006
StatusPrimitive
Associated morphologymultipele poliepen
Finding sitestructuur van dikke darm
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map157798
SNOMED CT to ICD-10 extended map
TargetD12.6
RuleTRUE
AdviceALWAYS D12.6 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified