1187210007: Intellectual disability, epilepsy, extrapyramidal syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Intellectual disability, epilepsy, extrapyramidal syndrome
• \General finding of soft tissue\Poor muscle tone\Intellectual disability, epilepsy, extrapyramidal syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Functional finding\Motor function\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Functional finding\Developmental disorder of motor function\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Muscle finding (finding)\Finding of muscle tone (finding)\Poor muscle tone\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Musculoskeletal finding (finding)\Poor muscle tone\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental disorder of motor function\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Intellectual disability, epilepsy, extrapyramidal syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Intellectual disability, epilepsy, extrapyramidal syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4672728014	Intellectual disability, epilepsy, extrapyramidal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672729018	Intellectual disability, epilepsy, extrapyramidal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399588015	A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399589011	A rare genetic neurological disorder characterised by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672728014	Intellectual disability, epilepsy, extrapyramidal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672729018	Intellectual disability, epilepsy, extrapyramidal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672730011	A rare genetic neurological disorder with characteristics of hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399588015	A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399589011	A rare genetic neurological disorder characterised by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3420311001000115	Intelligenzminderung-Epilepsie-extrapyramidale Störung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6398071000241110	syndrome extrapyramidal avec déficience intellectuelle et épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6398071000241110	syndrome extrapyramidal avec déficience intellectuelle et épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420311001000115	Intelligenzminderung-Epilepsie-extrapyramidale Störung-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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