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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
• \Disease\trouble du développement\retard de développement\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
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

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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