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Ehlers-Danlos-syndroom van spondylodysplastisch type (aandoening)
Ehlers-Danlos-syndroom van spondylodysplastisch type
spondylodysplastische vorm van Ehlers-Danlos-syndroom
spondylodysplastisch EDS
spEDS
Ehlers-Danlos syndrome progeroid type
B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome)
Galactosyltransferase I deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency
Defective biosynthesis of proteodermatan sulfate
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
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6
CorrelationSNOMED CT source code to target map code correlation not specified