7134007: Osteogenesis imperfecta, dominant perinatal lethal (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant 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, dominant 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, dominant 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, dominant 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, dominant perinatal lethal
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant 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, dominant perinatal lethal
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant 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, dominant perinatal lethal

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

Descriptions:

Id Description Lang Type Status Case? Module

12770010 Osteogenesis imperfecta, dominant perinatal lethal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12771014 Osteogenesis imperfecta type II, dominant form en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

12772019 Neonatal lethal osteogenesis imperfecta congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

811496019 Osteogenesis imperfecta, dominant perinatal lethal (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
12770010	Osteogenesis imperfecta, dominant perinatal lethal	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12771014	Osteogenesis imperfecta type II, dominant form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12772019	Neonatal lethal osteogenesis imperfecta congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
811496019	Osteogenesis imperfecta, dominant perinatal lethal (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core