X-gebonden osteoporose met fracturen (aandoening)
X-gebonden osteoporose met fracturen
X-linked osteoporosis with fractures
A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van osteoporose met pathologische fractuur van lokalisatie niet gespecificeerd
SNOMED CT to Orphanet simple map391330
SNOMED CT to ICD-10 extended map
AdviceALWAYS M80.89
CorrelationSNOMED CT source code to target map code correlation not specified