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

SNOMED CT Concept\Clinical finding (finding)\...

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Osteogenesis imperfecta with blue sclerae AND normal teeth
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\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 (disorder)\Osteogenesis imperfecta with blue sclerae AND normal teeth

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

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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 (disorder)	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Disorder of digestive organ (disorder)	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Osteogenesis imperfecta with blue sclerae	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Scleral structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Occurrence	Congenital	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Connective tissue	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Connective tissue structure	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Blue colour	false	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Blue colour	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Tooth structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Has definitional manifestation	blå sklera	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Disorder of sclera	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Osteogenesis imperfecta type I (disorder)	true	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of sclera	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Sclera and episclera finding	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Congenital anomaly of sclera	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Scleral structure	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Disorder of sclera	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Occurrence	Congenital	true	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Lesion of eye structure	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Anomaly of eye (disorder)	false	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	Scleral structure	true	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	Blue sclera (disorder)	true	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Interprets	Bone formation	true	Inferred relationship	Some	3
Osteogenesis imperfecta with blue sclerae AND normal teeth	Has interpretation	Abnormal	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
107055015	Osteogenesis imperfecta with blue sclerae AND normal teeth	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
107057011	Osteogenesis imperfecta, type IB	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
803794017	Osteogenesis imperfecta with blue sclerae AND normal teeth (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3435811000052112	osteogenesis imperfecta med blå senhinna och normala tänder	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)