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 of skeletal system\Skeletal dysplasia\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 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\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\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\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\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 foetus and/or newborn\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 of skeletal system\Skeletal dysplasia\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 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\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\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\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\Skeletal dysplasia\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:

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

1454751000005118 Osteogenesis imperfecta, type 2A da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

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 (substance)	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	kongenit dysplasi	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	kongenit dysplasi	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	kongenit dysplasi	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

Refinability

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Reference Sets

GB English

US English

Back to Start

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
1454751000005118	Osteogenesis imperfecta, type 2A	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)