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1197053003: Melorheostosis with osteopoikilosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5399688012 Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399689016 Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterised by a variable presentation of limb pain and deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4694741018 Mixed sclerosing bone dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4694742013 Melorheostosis with osteopoikilosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4694743015 MSBD (mixed sclerosing bone dystrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4694744014 Melorheostosis with osteopoikilosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7729511000241112 dystrophie osseuse sclérosante mixte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7729521000241117 mélorhéostose avec ostéopoïkilose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445751001000114 Melorheostose mit Osteopoikilosis de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Is a Developmental hereditary disorder true Inferred relationship Some
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Is a Melorheostosis true Inferred relationship Some
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Is a Osteopoikilosis true Inferred relationship Some
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Interprets Bone density scan true Inferred relationship Some 3
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Has interpretation Above reference range true Inferred relationship Some 3
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Occurrence Congenital true Inferred relationship Some 1
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Finding site Bone structure true Inferred relationship Some 1
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Associated morphology Dysplasia true Inferred relationship Some 1
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Occurrence Congenital true Inferred relationship Some 2
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Finding site Bone structure true Inferred relationship Some 2
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Associated morphology Bony sclerosis true Inferred relationship Some 2
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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