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)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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 (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta

\Disease\Genetic disease\Osteogenesis imperfecta
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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 (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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\Congenital skeletal dysplasia (disorder)\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	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta	Is a	Metabolic bone disease	false	Inferred relationship	Some
Osteogenesis imperfecta	Associated morphology	Congenital dysplasia	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	Congenital dysplasia	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	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Osteogenesis imperfecta	Is a	Functional bone disorder	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 NOS	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
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	Is a	True	Osteogenesis imperfecta	Inferred relationship	Some
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.	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

Back to Start

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