86470003: Osteogenesis imperfecta, recessive perinatal lethal (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

143392014 Osteogenesis imperfecta, recessive perinatal lethal en Synonym Active Case insensitive SNOMED CT core
143393016 Vrolik disease en Synonym Active Case sensitive SNOMED CT core
143394010 Osteogenesis imperfecta, type II, recessive form en Synonym Active Initial character case insensitive SNOMED CT core
143395011 Porak-Durante syndrome en Synonym Active Case sensitive SNOMED CT core
143396012 Osteogenesis imperfecta, Vrolik type en Synonym Active Initial character case insensitive SNOMED CT core
828740016 Osteogenesis imperfecta, recessive perinatal lethal (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta, recessive perinatal lethal	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Interprets	Bone formation	true	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Is a	Osteogenesis imperfecta, perinatal lethal	true	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	Is a	Fragilitas ossium congenita	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Connective tissue structure	false	Inferred relationship	Some

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	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
143392014	Osteogenesis imperfecta, recessive perinatal lethal	en	Synonym	Active	Case insensitive	SNOMED CT core
143393016	Vrolik disease	en	Synonym	Active	Case sensitive	SNOMED CT core
143394010	Osteogenesis imperfecta, type II, recessive form	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
143395011	Porak-Durante syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
143396012	Osteogenesis imperfecta, Vrolik type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
828740016	Osteogenesis imperfecta, recessive perinatal lethal (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core