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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Encephalopathy\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\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\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\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\Encephalopathy\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\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\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\Intellectual ability - finding\Intellectual disability\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\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\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\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, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\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\Encephalopathy\Seizure disorder\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

3330732019 Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3330733012 Al Gazali Nair syndrome en Synonym Active Case sensitive SNOMED CT core

3330734018 This syndrome has characteristics of osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two siblings born to consanguineous parents. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
3330731014	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330732019	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330733012	Al Gazali Nair syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330734018	This syndrome has characteristics of osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two siblings born to consanguineous parents.	en	Definition	Active	Case sensitive	SNOMED CT core