congenitaal coloboom van iris	genetische verstandelijke beperking	kleine gestalte	malformatiesyndroom met betrokkenheid van meerdere systemen
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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
	Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.

Id	717887003
Status	Primitive

Associated morphology	fusiedefect door stoornis in ontwikkeling
Finding site	structuur van iris
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

Has interpretation	onder referentiebereik
Interprets	Body height

SNOMED CT to Orphanet simple map

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 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