86470003: Osteogenesis imperfecta, recessive perinatal lethal (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive 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\Osteogenesis imperfecta, recessive 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\Osteogenesis imperfecta, recessive 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\Osteogenesis imperfecta, recessive 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\Osteogenesis imperfecta, recessive perinatal lethal
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive 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, recessive perinatal lethal	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	interprète (attribut)	Bone formation, function (observable entity)	true	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	est un(e) (attribut)	Osteogenesis imperfecta, perinatal lethal	true	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	est un(e) (attribut)	Fragilitas ossium congenita	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	survenue (attribut)	congénital	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	localisation d'une constatation (attribut)	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	localisation d'une constatation (attribut)	Connective tissue structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	est un(e) (attribut)	False	Osteogenesis imperfecta, recessive perinatal lethal	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
143392014	Osteogenesis imperfecta, recessive perinatal lethal	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143393016	Vrolik disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
143394010	Osteogenesis imperfecta, type II, recessive form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
143395011	Porak-Durante syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
143396012	Osteogenesis imperfecta, Vrolik type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
828740016	Osteogenesis imperfecta, recessive perinatal lethal (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core