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Biemond syndrome type 2 (disorder)
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.
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
Id717887003
StatusPrimitive
Associated morphologyDevelopmental failure of fusion
Finding siteIris structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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