385482004: ostéogenèse imparfaite type 1 (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation fonctionnelle\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)

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

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Osteogenesis imperfecta type I (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteogenesis imperfecta type I (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)
\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\Osteogenesis imperfecta type I (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Osteogenesis imperfecta type I (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta type I (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteogenesis imperfecta type I (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta type I (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Osteogenesis imperfecta type I (disorder)	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta type I (disorder)	interprète (attribut)	Bone formation, function (observable entity)	true	Inferred relationship	Some	2
Osteogenesis imperfecta type I (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta type I (disorder)	est un(e) (attribut)	Osteogenesis imperfecta	true	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	localisation d'une constatation (attribut)	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteogenesis imperfecta type I (disorder)	est défini par la manifestation de (attribut)	Blue sclerae	false	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta type I (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Osteogenesis imperfecta type I (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Osteogenesis imperfecta type I (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Osteogenesis imperfecta type I (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	est un(e) (attribut)	True	Osteogenesis imperfecta type I (disorder)	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	est un(e) (attribut)	True	Osteogenesis imperfecta type I (disorder)	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
1459661014	Osteogenesis imperfecta type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1479688017	Osteogenesis imperfecta type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3542113016	van de Hoeve syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
617781000241115	ostéogenèse imparfaite type 1 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
897281000172111	ostéogenèse imparfaite type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
940951000172111	OI type 1 - ostéogenèse imparfaite type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)