1197053003: Melorheostosis with osteopoikilosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\...
• \Melorheostosis\Melorheostosis with osteopoikilosis
• \Osteopoikilosis\Melorheostosis with osteopoikilosis
• \General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\...
• \Melorheostosis\Melorheostosis with osteopoikilosis
• \Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Melorheostosis with osteopoikilosis
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Melorheostosis with osteopoikilosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Developmental disorder\Developmental hereditary disorder\Melorheostosis with osteopoikilosis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\Melorheostosis with osteopoikilosis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\Melorheostosis with osteopoikilosis

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4694741018	Mixed sclerosing bone dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
4694742013	Melorheostosis with osteopoikilosis	en	Synonym	Active	Case insensitive	SNOMED CT core
4694743015	MSBD (mixed sclerosing bone dystrophy) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4694744014	Melorheostosis with osteopoikilosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4694747019	A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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