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corneodermato-osseus syndroom (aandoening)
corneodermato-osseus syndroom
syndroom van Stern-Lubinsky-Durrie
Stern Lubinsky Durrie syndrome
Corneodermatoosseous syndrome
Corneo-dermato-osseous syndrome
Syndrome with characteristics of corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.
Id723584003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetH18.5
RuleTRUE
AdviceALWAYS H18.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4
CorrelationSNOMED CT source code to target map code correlation not specified