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syndroom van palmoplantaire keratodermie en aritmogene cardiomyopathie (aandoening)
syndroom van palmoplantaire keratodermie en aritmogene cardiomyopathie
keratosis palmoplantaris met aritmogene cardiomyopathie
ziekte van Naxos
keratodermie met wollig haar type I
KWWH type I
Naxos disease
Keratoderma with woolly hair type I
Palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy
Keratoderma with wooly hair type I
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome
A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar wooly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease.
Id715535009
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van scapus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified