Autosomal recessive hereditary disorder	Congenital anomaly of skeletal bone	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial-limb defects as major feature	Osteolysis
\|	\|	\|	\|	\|	\|

Multicentric osteolysis nodulosis arthropathy spectrum (disorder)
	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.
	spectrum van multicentrische osteolyse, nodulose en artropathie
	MONA-spectrum

Id	716868003
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Limb structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Osteolysis
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5
Correlation	SNOMED CT source code to target map code correlation not specified