spectrum van multicentrische osteolyse, nodulose en artropathie (aandoening)
spectrum van multicentrische osteolyse, nodulose en artropathie
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.
Associated morphologyosteolyse
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen
SNOMED CT to Orphanet simple map371428
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified