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juveniele polyposis met teleangiectasia haemorrhagica hereditaria (aandoening)
juveniele polyposis met teleangiectasia haemorrhagica hereditaria
juveniele polyposis met hereditaire hemorragische teleangiƫctasie
juveniele polyposis met ziekte van Rendu-Osler-Weber
Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia
JP-HHT (juvenile polyposis with hereditary hemorrhagic telangiectasia) syndrome
Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21.
Id1149069001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetI78.0
RuleTRUE
AdviceALWAYS I78.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified