||
klassiek-gelijkend syndroom van Ehlers-Danlos type 1 (aandoening)
klassiek-gelijkend syndroom van Ehlers-Danlos type 1
Ehlers-Danlos-syndroom door mutatie in TNXB
clEDS type 1
Ehlers-Danlos-syndroom door deficiƫntie van tenascine XB
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome classic-like type
A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21.
Id778022009
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified