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proteus-achtig syndroom (aandoening)
proteus-achtig syndroom
syndroom van Cohen-Hayden
Proteus like syndrome
Cohen-Hayden syndrome
Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomatous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN hamartoma syndrome group.
Id716862002
StatusPrimitive
Associated morphologyhamartoom
Finding sitestructuur van huid
Occurrencecongenitaal
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.3
RuleTRUE
AdviceALWAYS Q87.3
CorrelationSNOMED CT source code to target map code correlation not specified