86470003: Osteogenesis imperfecta, recessive perinatal lethal (disorder)

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

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)

\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, recessive perinatal lethal (disorder)
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\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, recessive perinatal lethal (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\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, recessive perinatal lethal (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\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, recessive perinatal lethal (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal (disorder)

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, recessive perinatal lethal (disorder)	Is a	Osteogenesis imperfecta, perinatal lethal (disorder)	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Finding site	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Is a	Osteogenesis imperfecta, perinatal lethal	true	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Interprets	Bone formation	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	False	Osteogenesis imperfecta, recessive perinatal lethal (disorder)	Inferred relationship	Some

Reference Sets

Belgian subset for medical problems in patient health records

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Id	Description	Lang	Type	Status	Case?	Module
143392014	Osteogenesis imperfecta, recessive perinatal lethal	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
143393016	Vrolik disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
143394010	Osteogenesis imperfecta, type II, recessive form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
143395011	Porak-Durante syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
143396012	Osteogenesis imperfecta, Vrolik type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
828740016	Osteogenesis imperfecta, recessive perinatal lethal (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7652181000172119	ostéogénèse imparfaite de type 2 à transmission récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7652191000172116	ostéogénèse imparfaite à transmission récessive, létale périnatale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7652201000172118	OI (ostéogénèse imparfaite) à transmission récessive, létale périnatale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5522931000172112	recessieve perinatale letale osteogenesis imperfecta	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5522941000172117	recessieve osteogenesis imperfecta type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5522951000172115	recessieve osteogenesis imperfecta type II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)