7134007: Osteogenesis imperfecta, dominant perinatal lethal (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

12770010 Osteogenesis imperfecta, dominant perinatal lethal en Synonym Active Entire term case insensitive SNOMED CT core module

12771014 Osteogenesis imperfecta type II, dominant form en Synonym Active Only initial character case insensitive SNOMED CT core module

12772019 Neonatal lethal osteogenesis imperfecta congenita en Synonym Active Entire term case insensitive SNOMED CT core module

811496019 Osteogenesis imperfecta, dominant 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, dominant perinatal lethal	Is a	Osteogenesis imperfecta, perinatal lethal (disorder)	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, dominant perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, dominant perinatal lethal	Is a	Osteogenesis imperfecta type II	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, dominant perinatal lethal	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, dominant perinatal lethal	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, dominant perinatal lethal	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, dominant perinatal lethal	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, dominant perinatal lethal	Interprets	Bone formation, function	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
12770010	Osteogenesis imperfecta, dominant perinatal lethal	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
12771014	Osteogenesis imperfecta type II, dominant form	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
12772019	Neonatal lethal osteogenesis imperfecta congenita	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
811496019	Osteogenesis imperfecta, dominant perinatal lethal (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module