78314001: Osteogenesis imperfecta (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Osteogenesis imperfecta

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Osteogenesis imperfecta

\Disease\Genetic disease\Osteogenesis imperfecta
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Osteogenesis imperfecta
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Osteogenesis imperfecta
\Disease\Developmental disorder\Congenital malformation\Osteogenesis imperfecta

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

129958015 Osteogenesis imperfecta en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
129960018 Osteopsathyrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
129961019 Fragilitas ossium en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
129962014 Brittle bone syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
503805018 Brittle bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
503806017 OI - Osteogenesis imperfecta en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)
819241013 Osteogenesis imperfecta (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta	Is a	Functional finding	true	Inferred relationship	Some
Osteogenesis imperfecta	Is a	Congenital malformation	true	Inferred relationship	Some
Osteogenesis imperfecta	Is a	Disorder of bone (disorder)	true	Inferred relationship	Some
Osteogenesis imperfecta	Is a	Genetic disease	true	Inferred relationship	Some
Osteogenesis imperfecta	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	1
Osteogenesis imperfecta	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta	Interprets	Bone formation	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary