Ehlers-Danlos-syndroom van klassiek type
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Ehlers-Danlos-syndroom van klassiek type 2 (aandoening)
Ehlers-Danlos-syndroom van klassiek type 2
cEDS type 2
klassieke vorm van Ehlers-Danlos-syndroom type 2
klassiek EDS type 2
Ehlers-Danlos syndrome classic type 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars and generalized joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31.
Id1287094005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van bindweefsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to ICD-10 extended map
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6
CorrelationSNOMED CT source code to target map code correlation not specified