205496008: Osteogenesis imperfecta type II (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

315121011 Osteogenesis imperfecta, perinatal lethal en Synonym Active Case insensitive SNOMED CT core

315122016 Osteogenesis imperfecta type II en Synonym Active Initial character case insensitive SNOMED CT core

315123014 Osteogenesis imperfecta, type II en Synonym Active Initial character case insensitive SNOMED CT core

4694546013 Lethal osteogenesis imperfecta en Synonym Active Case insensitive SNOMED CT core

590871014 Osteogenesis imperfecta type II (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta, perinatal lethal	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Pathological process	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
Osteogenesis imperfecta, perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Is a	Osteogenesis imperfecta	true	Inferred relationship	Some
Osteogenesis imperfecta, perinatal lethal	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Finding site	Bone structure	false	Inferred relationship	Some	1
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	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	Congenital dysplasia	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta type IIC	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 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

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
315121011	Osteogenesis imperfecta, perinatal lethal	en	Synonym	Active	Case insensitive	SNOMED CT core
315122016	Osteogenesis imperfecta type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
315123014	Osteogenesis imperfecta, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4694546013	Lethal osteogenesis imperfecta	en	Synonym	Active	Case insensitive	SNOMED CT core
590871014	Osteogenesis imperfecta type II (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core