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syndroom van nasopalpebraal lipoom en coloboom (aandoening)
syndroom van nasopalpebraal lipoom en coloboom
Nasopalpebral lipoma coloboma syndrome
Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance.
Id723411003
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van palpebra
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologylipomateuze morfologie
Finding sitestructuur van aangezicht
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ10.3
RuleTRUE
AdviceALWAYS Q10.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD17.0
RuleTRUE
AdviceALWAYS D17.0 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified