1197053003: Melorheostosis with osteopoikilosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Imaging finding (finding)\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Procedure related finding\Evaluation finding\Imaging finding (finding)\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range (finding)\Bone density above reference range\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range (finding)\Bone density above reference range\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Procedure related finding\Bone density finding (finding)\Bone density above reference range\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Procedure related finding\Bone density finding (finding)\Bone density above reference range\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis

\Musculoskeletal finding (finding)\Bone finding\Bone density finding (finding)\Bone density above reference range\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Bone finding\Bone density finding (finding)\Bone density above reference range\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Melorheostosis with osteopoikilosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Melorheostosis\Melorheostosis with osteopoikilosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis (disorder)\Melorheostosis with osteopoikilosis

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

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

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

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 Entire term case sensitive (core metadata concept) SNOMED CT core

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

3445751001000114 Melorheostose mit Osteopoikilosis de Synonym (core metadata concept) Active Entire term case sensitive (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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Melorheostosis with osteopoikilosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melorheostosis with osteopoikilosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melorheostosis with osteopoikilosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melorheostosis with osteopoikilosis	Is a	Melorheostosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melorheostosis with osteopoikilosis	Is a	Osteopoikilosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melorheostosis with osteopoikilosis	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Melorheostosis with osteopoikilosis	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Melorheostosis with osteopoikilosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melorheostosis with osteopoikilosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melorheostosis with osteopoikilosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melorheostosis with osteopoikilosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melorheostosis with osteopoikilosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melorheostosis with osteopoikilosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melorheostosis with osteopoikilosis	Associated morphology	Bony sclerosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melorheostosis with osteopoikilosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
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
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	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
3445751001000114	Melorheostose mit Osteopoikilosis	de	Synonym (core metadata concept)	Active	Entire term case sensitive (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