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proteussyndroom (aandoening)
proteussyndroom
proteussyndroom
Zeer zeldzame erfelijke aandoening met als kenmerken overmatige groei of misvormingen van verschillende typen weefsels, zoals huid, onderhuids weefsel, botten en organen.
Proteus syndrome
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.
Id23150001
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van skeletstelsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhamartoom
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.3
RuleTRUE
AdviceALWAYS Q87.3
CorrelationSNOMED CT source code to target map code correlation not specified
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