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syndroom van wollig haar en palmoplantaire hyperkeratose met gedilateerde cardiomyopathie (aandoening)
syndroom van wollig haar en palmoplantaire hyperkeratose met gedilateerde cardiomyopathie
Carvajal-syndroom
syndroom van Carvajal
wollig haar-palmoplantaire keratodermie-gedilateerde cardiomyopathie-syndroom
keratoderma met 'woolly hair' type II
KWWH type II
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
Keratoderma with wooly hair type II
Carvajal syndrome
This syndrome has characteristics of wooly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The wooly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease.
Id719835006
StatusPrimitive
Associated morphologydilatatie
Finding sitestructuur van myocardium
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitestructuur van huid
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van scapus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified