1197053003: Melorheostosis with osteopoikilosis (disorder)

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

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

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

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

13798011000172118 MSBD-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

13798021000172111 gemengde scleroserende botdystrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13798031000172114 meloreostose met osteopoikilie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets