| 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. |
| | Id | 717887003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
|
| SNOMED CT to Orphanet simple map | 141333 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | 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 |
|
|
