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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
keratoderma met 'woolly hair' type II
KWWH type II
Carvajal-syndroom
syndroom van Carvajal
wollig haar-palmoplantaire keratodermie-gedilateerde cardiomyopathie-syndroom
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
Keratoderma with wooly hair type II
Carvajal syndrome
A rare genetic ectodermal dysplasia syndrome characterized by wooly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map65282
SNOMED CT to ICD-10 extended map
TargetI42.0
RuleTRUE
AdviceALWAYS I42.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified