autosomaal dominante hereditaire aandoening
hereditaire aandoening van auditief systeem
keratosis palmoplantaris hereditaria
perceptief gehoorverlies
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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
Finding sitestructuur van auditief systeem
Has interpretationgestoord
Interpretsgehoorfunctie
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
Associated morphologyhyperkeratose
Finding sitestructuur van huid van palmaire zijde van hand
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
SNOMED CT to Orphanet simple map2202
SNOMED CT to ICD-10 extended map
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