7134007: dominante osteogenesis imperfecta type II (aandoening)

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

\Functional finding\Finding of ossification\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal

\Musculoskeletal finding\Bone finding\Finding of ossification\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\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, dominant perinatal lethal
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\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, dominant perinatal lethal
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\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, dominant perinatal lethal
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\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, dominant perinatal lethal
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, dominant perinatal lethal
\Disease\Developmental disorder\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta, dominant perinatal lethal	Is a	Osteogenesis imperfecta, perinatal lethal (disorder)	false	Inferred relationship	Some
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Is a	Osteogenesis imperfecta, perinatal lethal	true	Inferred relationship	Some
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Osteogenesis imperfecta, dominant perinatal lethal	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta, dominant perinatal lethal	Interprets	Bone formation	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
6875941000146119	dominante perinatale letale osteogenesis imperfecta	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6875951000146116	dominante osteogenesis imperfecta type II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7331661000146110	dominante osteogenesis imperfecta type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13584111000146117	dominante osteogenesis imperfecta type II (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)