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Ehlers-Danlos-syndroom van spondylodysplastisch type (aandoening)
Ehlers-Danlos-syndroom van spondylodysplastisch type
spondylodysplastisch EDS
spEDS
spondylodysplastische vorm van Ehlers-Danlos-syndroom
Ehlers-Danlos syndrome progeroid type
Defective biosynthesis of proteodermatan sulfate
Galactosyltransferase I deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency
A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars.
Id720861000
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretsbotdensitometrie
referentieset met complexe 'mapping' naar ICD-10
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6
CorrelationSNOMED CT source code to target map code correlation not specified