syndroom van Pai
syndroom van mediane hazenlip, lipoom van corpus callosum en huidpoliep
syndroom van mediane cheiloschisis, pericallosaal lipoom en cutane poliep
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome
An idiopathic developmental disorder with characteristics of median cleft of the upper lip, midline polyps of the facial skin and nasal mucosa and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia. Normal neuropsychological development was reported in all but one case that presented with epileptic seizures. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|