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Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome (disorder)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome
A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening.
syndroom van intra-epitheliale dyskeratose van cornea, palmoplantaire keratodermie en dyskeratose van larynx
syndroom van corneale intra-epitheliale dyskeratose, palmoplantaire hyperkeratose en dyskeratose van larynx
Id773577009
StatusPrimitive
Associated morphologyDystrophy
Finding siteCorneal structure
Has interpretationAbnormal
InterpretsKeratinization
Associated morphologyDyskeratosis
Finding siteLaryngeal structure
Associated morphologyHyperkeratosis
Finding siteEntire skin of palmar area of hand
Associated morphologyHyperkeratosis
Finding siteEntire skin of sole of foot
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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