78314001: Osteogenesis imperfecta (disorder)

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

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta

\Disease\Genetic disease\Osteogenesis imperfecta
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\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\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta	Is a	Metabolic disease of collagen	false	Inferred relationship	Some
Osteogenesis imperfecta	Is a	Dysplasia with decreased bone density	false	Inferred relationship	Some
Osteogenesis imperfecta	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta	Finding site	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta	Finding site	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Osteogenesis imperfecta	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Osteogenesis imperfecta	Is a	Metabolic bone disease	false	Inferred relationship	Some
Osteogenesis imperfecta	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Osteogenesis imperfecta	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteogenesis imperfecta	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteogenesis imperfecta	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	2
Osteogenesis imperfecta	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta	Is a	Musculoskeletal and connective tissue disorder (disorder)	false	Inferred relationship	Some
Osteogenesis imperfecta	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Osteogenesis imperfecta	Is a	forstyrrelse af knoglevævsfunktion	false	Inferred relationship	Some
Osteogenesis imperfecta	Interprets	Bone formation	true	Inferred relationship	Some	2
Osteogenesis imperfecta	Is a	Genetic disease	true	Inferred relationship	Some
Osteogenesis imperfecta	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteogenesis imperfecta	Is a	Abnormal bone formation	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopsathyrosis	Is a	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta with normal sclerae, dominant form	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteoporosis with pseudoglioma	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal (disorder)	Is a	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Is a	False	Osteogenesis imperfecta	Inferred relationship	Some
Feline osteogenesis imperfecta	Is a	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta with progressive deformity AND normal sclerae	Is a	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta - unclassifiable	Is a	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta, ikke nærmere specificeret	Is a	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta type III (disorder)	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
Family history of osteogenesis imperfecta	Associated finding	True	Osteogenesis imperfecta	Inferred relationship	Some	1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
High bone mass osteogenesis imperfecta	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta type 5 (disorder)	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
129958015	Osteogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
129960018	Osteopsathyrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
129961019	Fragilitas ossium	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
129962014	Brittle bone syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503805018	Brittle bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503806017	OI - Osteogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
819241013	Osteogenesis imperfecta (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2476511000005119	Osteogenesis imperfecta	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	dansk modul