205496008: Osteogenesis imperfecta type II (disorder)

SNOMED CT Concept\Clinical finding\...

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta type II

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

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

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

315121011 Osteogenesis imperfecta, perinatal lethal en Synonym Active Entire term case insensitive SNOMED CT core module

315122016 Osteogenesis imperfecta type II en Synonym Active Only initial character case insensitive SNOMED CT core module

315123014 Osteogenesis imperfecta, type II en Synonym Active Only initial character case insensitive SNOMED CT core module

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

4694546013 Lethal osteogenesis imperfecta en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta type IIA	Is a	True	Osteogenesis imperfecta type II	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta type IIB	Is a	True	Osteogenesis imperfecta type II	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	True	Osteogenesis imperfecta type II	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, dominant perinatal lethal	Is a	True	Osteogenesis imperfecta type II	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal	Is a	True	Osteogenesis imperfecta type II	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta type IIC	Is a	True	Osteogenesis imperfecta type II	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315121011	Osteogenesis imperfecta, perinatal lethal	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
315122016	Osteogenesis imperfecta type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
315123014	Osteogenesis imperfecta, type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
590871014	Osteogenesis imperfecta type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4694546013	Lethal osteogenesis imperfecta	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module