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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.
Id716195006
StatusDefined
Associated morphologymorfologische afwijking
Finding sitestructuur van enamelum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ76.3
TermCongenitale scoliose door congenitale benige misvorming
TargetK00.5
TermErfelijke afwijkingen van tandstructuur, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2899
SNOMED CT to ICD-10 extended map
TargetQ76.3
RuleTRUE
AdviceALWAYS Q76.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK00.5
RuleTRUE
AdviceALWAYS K00.5
CorrelationSNOMED CT source code to target map code correlation not specified