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

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\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 (disorder)\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 (disorder)\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome

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

\Finding of brain\Seizure\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome

\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\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\Hereditary disorder of nervous system\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\Hereditary disorder of nervous system\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
\Disease\Developmental 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

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

12686171000172110 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) Belgian module (core metadata concept)

7264041000172110 syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, convulsies en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7264051000172112 syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, epileptische aanvallen en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7264061000172114 syndroom van algemene ontwikkelingsachterstand, neuro-oftalmologische afwijking, insulten en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Is a	Seizure disorder	true	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
12686171000172110	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)	Belgian module (core metadata concept)
7264041000172110	syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, convulsies en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7264051000172112	syndroom van algehele ontwikkelingsachterstand, neuro-oftalmologische afwijking, epileptische aanvallen en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7264061000172114	syndroom van algemene ontwikkelingsachterstand, neuro-oftalmologische afwijking, insulten en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)