1172630000: Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634873019	Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634875014	Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399362019	A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399363012	A rare genetic neurological disorder characterised by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634873019	Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634875014	Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634874013	A rare genetic neurological disorder with characteristics of infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea) or mild dysmorphic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399362019	A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399363012	A rare genetic neurological disorder characterised by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424531001000114	Allgemeine Entwicklungsverzögerung-neuroophthalmologische Anomalien-Krämpfe-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6238341000241119	syndrome de retard global de développement, anomalies neuro-ophtalmologiques, épilepsie et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6238341000241119	syndrome de retard global de développement, anomalies neuro-ophtalmologiques, épilepsie et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3424531001000114	Allgemeine Entwicklungsverzögerung-neuroophthalmologische Anomalien-Krämpfe-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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