78314001: Osteogenesis imperfecta (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation fonctionnelle\Abnormal bone formation\Osteogenesis imperfecta

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Musculoskeletal finding\constatation à propos de l'os\Abnormal bone formation\Osteogenesis imperfecta
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta

\Disease\Genetic disease\Osteogenesis imperfecta
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta
\Disease\trouble du développement\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	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteogenesis imperfecta	est un(e) (attribut)	Musculoskeletal and connective tissue disorder (disorder)	false	Inferred relationship	Some
Osteogenesis imperfecta	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Osteogenesis imperfecta	est un(e) (attribut)	Functional bone disorder	false	Inferred relationship	Some
Osteogenesis imperfecta	interprète (attribut)	Bone formation, function (observable entity)	true	Inferred relationship	Some	2
Osteogenesis imperfecta	est un(e) (attribut)	Genetic disease	true	Inferred relationship	Some
Osteogenesis imperfecta	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteogenesis imperfecta	est un(e) (attribut)	Abnormal bone formation	true	Inferred relationship	Some
Osteogenesis imperfecta	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Osteogenesis imperfecta	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta	est un(e) (attribut)	maladie métabolique de l'os	false	Inferred relationship	Some
Osteogenesis imperfecta	est un(e) (attribut)	Metabolic disease of collagen	false	Inferred relationship	Some
Osteogenesis imperfecta	est un(e) (attribut)	Dysplasia with decreased bone density	false	Inferred relationship	Some
Osteogenesis imperfecta	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteogenesis imperfecta	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Osteogenesis imperfecta	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Osteogenesis imperfecta	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Osteogenesis imperfecta	survenue (attribut)	congénital	false	Inferred relationship	Some
Osteogenesis imperfecta	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Osteogenesis imperfecta	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta	localisation d'une constatation (attribut)	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Osteogenesis imperfecta	localisation d'une constatation (attribut)	Connective tissue structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
High bone mass osteogenesis imperfecta	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta type 5 (disorder)	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta type III (disorder)	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	est un(e) (attribut)	False	Osteogenesis imperfecta	Inferred relationship	Some
Feline osteogenesis imperfecta	est un(e) (attribut)	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta with progressive deformity AND normal sclerae (disorder)	est un(e) (attribut)	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteopsathyrosis	est un(e) (attribut)	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta with normal sclerae, dominant form	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta - unclassifiable	est un(e) (attribut)	False	Osteogenesis imperfecta	Inferred relationship	Some
Osteogenesis imperfecta NOS	est un(e) (attribut)	False	Osteogenesis imperfecta	Inferred relationship	Some
Family history of osteogenesis imperfecta	constatation associée (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some	1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Osteoporosis with pseudoglioma	est un(e) (attribut)	True	Osteogenesis imperfecta	Inferred relationship	Some
Fragilitas ossium congenita	est un(e) (attribut)	False	Osteogenesis imperfecta	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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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
444151000172117	osteogenesis imperfecta	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
452311000172113	ostéogenèse imparfaite	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
468291000241110	ostéogenèse imparfaite (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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