dysplasie met verminderde botdichtheid
genetische aandoening
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'low density lipoprotein receptor-related protein 5'-gerelateerde primaire osteoporose (aandoening)
LRP5-gerelateerde primaire osteoporose
'low density lipoprotein receptor-related protein 5'-gerelateerde primaire osteoporose
'LDL receptor-related protein 5'-gerelateerde primaire osteoporose
LRP5-related primary osteoporosis
Low density lipoprotein receptor-related protein 5 related primary osteoporosis
A rare primary bone dysplasia with characteristics of reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.
Id1169364005
StatusPrimitive
Has interpretationonder referentiebereik
Interpretsbotdensitometrie
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map498481
SNOMED CT to ICD-10 extended map
TargetM81.89
RuleTRUE
AdviceALWAYS M81.89
CorrelationSNOMED CT source code to target map code correlation not specified