64404003: Osteogenesis imperfecta with blue sclerae AND normal teeth (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Finding of head region\Globe finding\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Eye / vision finding\Globe finding\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\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 I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\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 I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Developmental disorder\Developmental hereditary disorder\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type I\Osteogenesis imperfecta with blue sclerae AND normal teeth

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

107055015 Osteogenesis imperfecta with blue sclerae AND normal teeth en Synonym Active Only initial character case insensitive SNOMED CT core module

803794017 Osteogenesis imperfecta with blue sclerae AND normal teeth (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4694521013 Osteogenesis imperfecta type IA en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Disorder of upper digestive tract	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Disorder of digestive organ	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Osteogenesis imperfecta with blue sclerae	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Scleral structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Blue color	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Blue color	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Tooth structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Has definitional manifestation	Blue sclerae	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Disorder of sclera	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Osteogenesis imperfecta type I	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of sclera	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Sclera and episclera finding	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of sclera	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Scleral structure	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Disorder of sclera	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Lesion of eye	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Anomaly of eye	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Scleral structure	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Blue sclera	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth	Interprets	Bone formation, function	true	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta with blue sclerae AND normal teeth	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3

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
107055015	Osteogenesis imperfecta with blue sclerae AND normal teeth	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
803794017	Osteogenesis imperfecta with blue sclerae AND normal teeth (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4694521013	Osteogenesis imperfecta type IA	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module