205496008: Osteogenesis imperfecta type II (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation fonctionnelle\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal

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

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\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, perinatal lethal
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\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, perinatal lethal
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta, perinatal lethal	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	interprète (attribut)	Bone formation, function (observable entity)	true	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	est un(e) (attribut)	Osteogenesis imperfecta	true	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	localisation d'une constatation (attribut)	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	localisation d'une constatation (attribut)	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	survenue (attribut)	congénital	false	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta type IIC (disorder)	est un(e) (attribut)	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	est un(e) (attribut)	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta, dominant perinatal lethal	est un(e) (attribut)	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	est un(e) (attribut)	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta type IIA	est un(e) (attribut)	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta type IIB	est un(e) (attribut)	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1000241000172117	OI type 2 - ostéogenèse imparfaite type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
315121011	Osteogenesis imperfecta, perinatal lethal	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315122016	Osteogenesis imperfecta type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
315123014	Osteogenesis imperfecta, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4694546013	Lethal osteogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
527841000241116	ostéogenèse imparfaite type 2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
590871014	Osteogenesis imperfecta type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
958441000172118	ostéogenèse imparfaite type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)