782781006: High bone mass osteogenesis imperfecta (disorder)

SNOMED CT Concept\constatation clinique\...

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755741014 High bone mass osteogenesis imperfecta en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755742019 High bone mass osteogenesis imperfecta (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755743012 A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
High bone mass osteogenesis imperfecta	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
High bone mass osteogenesis imperfecta	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
High bone mass osteogenesis imperfecta	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
High bone mass osteogenesis imperfecta	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
High bone mass osteogenesis imperfecta	survenue (attribut)	congénital	true	Inferred relationship	Some	1
High bone mass osteogenesis imperfecta	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
High bone mass osteogenesis imperfecta	est un(e) (attribut)	Osteogenesis imperfecta	true	Inferred relationship	Some
High bone mass osteogenesis imperfecta	interprète (attribut)	Bone formation, function (observable entity)	true	Inferred relationship	Some	2
High bone mass osteogenesis imperfecta	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
High bone mass osteogenesis imperfecta	est un(e) (attribut)	Developmental hereditary disorder	true	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
3755741014	High bone mass osteogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755742019	High bone mass osteogenesis imperfecta (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755743012	A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core