78314001: Osteogenesis imperfecta (disorder)

SNOMED CT Concept\Clinical finding\...

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\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\Congenital skeletal dysplasia\Osteogenesis imperfecta
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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 body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital 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. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta	Is a	Metabolic disease of collagen	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Is a	Dysplasia with decreased bone density	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta	Is a	Metabolic bone disease	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta	Is a	Musculoskeletal and connective tissue disorder	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Is a	Functional bone disorder	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Interprets	Bone formation, function	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta	Is a	Abnormal bone formation	true	Inferred relationship	Existential restriction modifier

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
129958015	Osteogenesis imperfecta	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
129959011	Osteogenesis imperfecta, NOS	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
129960018	Osteopsathyrosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
129961019	Fragilitas ossium	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
129962014	Brittle bone syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
503805018	Brittle bone disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
503806017	OI - Osteogenesis imperfecta	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
819241013	Osteogenesis imperfecta (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module