78314001: Osteogenesis imperfecta (disorder)

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

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Musculoskeletal finding (finding)\Bone finding\Abnormal bone formation\Osteogenesis imperfecta
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\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\Osteogenesis imperfecta
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\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\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\Disorder of foetus and/or newborn\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\Skeletal dysplasia\Osteogenesis imperfecta
\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\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\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)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\Developmental disorder (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	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Is a	Dysplasia with decreased bone density	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteogenesis imperfecta	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteogenesis imperfecta	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteogenesis imperfecta	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteogenesis imperfecta	Is a	Metabolic bone disease (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteogenesis imperfecta	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteogenesis imperfecta	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteogenesis imperfecta	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteogenesis imperfecta	Is a	Musculoskeletal and connective tissue disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Is a	Functional bone disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Interprets	Bone formation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Is a	Abnormal bone formation	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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

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
129958015	Osteogenesis imperfecta	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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 sensitive (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	Only initial character 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	Only initial character 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	Only initial character case insensitive (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
948641000195111	osteogenesi imperfetta	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3427371001000110	Osteogenesis imperfecta	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
444151000172117	osteogenesis imperfecta	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
452311000172113	ostéogenèse imparfaite	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
444151000172117	osteogenesis imperfecta	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
452311000172113	ostéogenèse imparfaite	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948641000195111	osteogenesi imperfetta	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3427371001000110	Osteogenesis imperfecta	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module