385482004: Osteogenesis imperfecta type I (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteogenesis imperfecta type I
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteogenesis imperfecta type I
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I
\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 type I
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I
\Disease\Developmental disorder\Developmental hereditary disorder\Osteogenesis imperfecta type I
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I

Status: current, Primitive. Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1459661014 Osteogenesis imperfecta type I (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

1479688017 Osteogenesis imperfecta type I en Synonym Active Initial character case insensitive SNOMED CT core

3542113016 van de Hoeve syndrome en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta type I	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta type I	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta type I	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta type I	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Osteogenesis imperfecta type I	Interprets	Bone formation	true	Inferred relationship	Some	2
Osteogenesis imperfecta type I	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Osteogenesis imperfecta type I	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteogenesis imperfecta type I	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Osteogenesis imperfecta type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta type I	Is a	Osteogenesis imperfecta	true	Inferred relationship	Some
Osteogenesis imperfecta type I	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta type I	Finding site	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta type I	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta type I	Has definitional manifestation	Blue sclerae	false	Inferred relationship	Some
Osteogenesis imperfecta type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteogenesis imperfecta type I	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta type I	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteogenesis imperfecta type I	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteogenesis imperfecta type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Is a	True	Osteogenesis imperfecta type I	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	True	Osteogenesis imperfecta type I	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
1459661014	Osteogenesis imperfecta type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
1479688017	Osteogenesis imperfecta type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3542113016	van de Hoeve syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core