254110009: Osteogenesis imperfecta type IIA (disorder)

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

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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 type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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 type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.

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 type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Is a	Osteogenesis imperfecta, perinatal lethal	true	Inferred relationship	Some
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Finding site	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Finding site	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Interprets	Bone formation	true	Inferred relationship	Some	2

Inbound Relationships

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Characteristic

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Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4694544011	Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4694545012	Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modelling of the femur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
378269018	Osteogenesis imperfecta type IIA	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378270017	Osteogenesis imperfecta congenita neonatal lethal form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378271018	Osteogenesis imperfecta, neonatal lethal	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644956016	Osteogenesis imperfecta type IIA (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7299421000241119	ostéogenèse imparfaite de type Vrolik	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7299431000241117	OI (ostéogénèse imparfaite) de type IIA	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7299441000241110	ostéogénèse imparfaite de type IIA	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module