205496008: 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

\Musculoskeletal finding\Bone finding\Finding of ossification\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, 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
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, 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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, 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
\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
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, 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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, 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
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, 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, perinatal lethal	Is a	Osteogenesis imperfecta	true	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	Finding site	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Finding site	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	Interprets	Bone formation	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta type IIA	Is a	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta type IIB	Is a	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta, dominant perinatal lethal	Is a	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	Is a	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some
Osteogenesis imperfecta type IIC (disorder)	Is a	True	Osteogenesis imperfecta, perinatal lethal	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315121011	Osteogenesis imperfecta, perinatal lethal	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315122016	Osteogenesis imperfecta type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
315123014	Osteogenesis imperfecta, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
590871014	Osteogenesis imperfecta type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4694546013	Lethal osteogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6875501000146114	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)
7331521000146116	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)
8366831000146113	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)