86470003: Osteogenesis imperfecta, recessive perinatal lethal (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

143392014 Osteogenesis imperfecta, recessive perinatal lethal en Synonym Active Entire term case insensitive SNOMED CT core module

143393016 Vrolik disease en Synonym Active Entire term case sensitive SNOMED CT core module

143394010 Osteogenesis imperfecta, type II, recessive form en Synonym Active Only initial character case insensitive SNOMED CT core module

143395011 Porak-Durante syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

143396012 Osteogenesis imperfecta, Vrolik type en Synonym Active Only initial character case insensitive SNOMED CT core module

828740016 Osteogenesis imperfecta, recessive perinatal lethal (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta, recessive perinatal lethal	Is a	Osteogenesis imperfecta, perinatal lethal (disorder)	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal	Is a	Osteogenesis imperfecta type II	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, recessive perinatal lethal	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, recessive perinatal lethal	Interprets	Bone formation, function	true	Inferred relationship	Existential restriction modifier	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	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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