||||
Biemond-syndroom type 2 (aandoening)
Biemond-syndroom type 2
syndroom van iriscoloboom, kleine gestalte, obesitas, hypogonadisme, postaxiale polydactylie en verstandelijke beperking
syndroom van coloboma iridis, kleine lengte, obesitas, hypogenitalisme, postaxiale polydactylie en verstandelijke beperking
BS2
syndroom van Biemond type 2
Biemond syndrome type 2
An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997.
Id717887003
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van iris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified