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Raine-dysplasie (aandoening)
Raine-dysplasie
Raine-syndroom
letale osteosclerotische botdysplasie
syndroom van Raine
Raine dysplasia
Raine syndrome
Lethal osteosclerotic bone dysplasia
A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.
Id389239007
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretsbotdensitometrie
referentieset met complexe 'mapping' naar ICD-10
TargetQ78.2
RuleTRUE
AdviceALWAYS Q78.2
CorrelationSNOMED CT source code to target map code correlation not specified