amelogenesis imperfecta	autosomaal recessieve hereditaire aandoening	brachyolmie
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syndroom van autosomaal recessieve 'brachyolmia' en amelogenesis imperfecta (aandoening)
	syndroom van autosomaal recessieve 'brachyolmia' en amelogenesis imperfecta
	Verloes Bourguignon syndrome
	Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome Brachyolmia and amelogenesis imperfecta syndrome Platyspondyly amelogenesis imperfecta
	An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.

Id	716195006
Status	Defined

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

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

Interprets

meetbare observatie betreffende lengte en/of groei

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q76.3
Term	Congenitale scoliose door congenitale benige misvorming

Target	K00.5
Term	Erfelijke afwijkingen van tandstructuur, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

2899

SNOMED CT to ICD-10 extended map

Target	Q76.3
Rule	TRUE
Advice	ALWAYS Q76.3
Correlation	SNOMED CT source code to target map code correlation not specified

Target	K00.5
Rule	TRUE
Advice	ALWAYS K00.5
Correlation	SNOMED CT source code to target map code correlation not specified