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syndroom van palmoplantaire keratodermie en doofheid (aandoening)
syndroom van palmoplantaire keratodermie en doofheid
Palmoplantar keratoderma with deafness syndrome
A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.
Id722203001
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
Has interpretationgestoord
Interpretsgehoorfunctie
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified