Amelogenesis imperfecta
Autosomal recessive hereditary disorder
Brachyolmia
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Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
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.
syndroom van autosomaal recessieve 'brachyolmia' en amelogenesis imperfecta
Id716195006
StatusDefined
Associated morphologyMorphologically abnormal structure
Finding siteEnamel structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsHeight / growth measure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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