||||||
spectrum van multicentrische osteolyse, nodulose en artropathie (aandoening)
spectrum van multicentrische osteolyse, nodulose en artropathie
MONA-spectrum
Multicentric osteolysis nodulosis arthropathy spectrum
MONA (multicentric osteolysis nodulosis arthropathy) spectrum
A rare genetic chronic skeletal disorder with characteristics of peripheral osteolysis, interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. The prevalence and incidence of MONA are not known. Fewer than 50 cases have been reported worldwide. MONA spectrum disorders are caused by mutations in the MMP2 gene (16q13-q21) or MMP14 gene (14q11-q12). Follows an autosomal recessive pattern of inheritance. Many cases are reported in children from consanguineous unions.
Id716868003
StatusPrimitive
Associated morphologyosteolyse
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified