|||||||
Kopysc-Barczyk-Krol-syndroom (aandoening)
Kopysc-Barczyk-Krol-syndroom
euhidrotische ectodermale dysplasie
syndroom van Kopysc-Barczyk-Krol
syndroom van pilodentale dysplasie en ametropie
Pilodental dysplasia, refractive errors syndrome
Kopysc Barczyk Krol syndrome
Euhidrotic ectodermal dysplasia
A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.
Id771240009
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified