congenitale afwijking van benig skelet	congenitale afwijking van visueel systeem	congenitale macrocefalie	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	skeletdysplasie
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syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht (aandoening)
	syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht
	syndroom van Heide
	Heide syndrome
	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome
	This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.

Id	716189005
Status	Primitive

Associated morphology	vergroting
Finding site	structuur van hoofd
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van visueel systeem
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	boven referentiebereik
Interprets	hoofdomtrek

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

2787

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified