722110003: Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

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

\Finding of brain\Seizure\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disorder of head\Disorder of brain\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\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, retinopathy, seizures, intellectual disability syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\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, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3330731014 Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3330732019 Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3330733012 Al Gazali Nair syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Is a	Retinal disorder	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Is a	Osteogenesis imperfecta	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Is a	Seizure disorder	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier	5
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	6
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	6
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	3
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Interprets	Bone formation, function	true	Inferred relationship	Existential restriction modifier	4
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	4
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

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
3330731014	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3330732019	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3330733012	Al Gazali Nair syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module