716868003: Multicentric osteolysis nodulosis arthropathy spectrum (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Multicentric osteolysis nodulosis arthropathy spectrum
• \Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteolysis\Multicentric osteolysis nodulosis arthropathy spectrum
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Multicentric osteolysis nodulosis arthropathy spectrum
• \Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Multicentric osteolysis nodulosis arthropathy spectrum
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Multicentric osteolysis nodulosis arthropathy spectrum
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Multicentric osteolysis nodulosis arthropathy spectrum
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Developmental disorder\Developmental hereditary disorder\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric osteolysis nodulosis arthropathy spectrum
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Multicentric osteolysis nodulosis arthropathy spectrum

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3307844012	Multicentric osteolysis nodulosis arthropathy spectrum (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307845013	Multicentric osteolysis nodulosis arthropathy spectrum	en	Synonym	Active	Case insensitive	SNOMED CT core
3307846014	MONA (multicentric osteolysis nodulosis arthropathy) spectrum	en	Synonym	Active	Case sensitive	SNOMED CT core
3307847017	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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