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 (disorder)\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, epilepsy, extrapyramidal syndrome

\General finding of soft tissue\Poor muscle tone (finding)\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 (disorder)\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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)\Intellectual disability\Intellectual disability, epilepsy, extrapyramidal syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, epilepsy, extrapyramidal syndrome
\Functional finding\Developmental disorder of motor function\Intellectual disability, epilepsy, extrapyramidal syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, epilepsy, extrapyramidal syndrome

\Muscle finding\Finding of muscle tone (finding)\Poor muscle tone (finding)\Intellectual disability, epilepsy, extrapyramidal syndrome
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Intellectual disability, epilepsy, extrapyramidal syndrome

\Musculoskeletal finding\Poor muscle tone (finding)\Intellectual disability, epilepsy, extrapyramidal syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, epilepsy, extrapyramidal syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Hereditary disorder of nervous system\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\Hereditary disorder of nervous system\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 (disorder)\Seizure disorder\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental disorder of motor function\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, epilepsy, extrapyramidal syndrome
\Disease\Developmental 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Seizure disorder	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Mental disorder in infancy	false	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Developmental disorder of motor function	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Poor muscle tone (finding)	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Interprets	Muscle tone	true	Inferred relationship	Some	5
Intellectual disability, epilepsy, extrapyramidal syndrome	Interprets	Ability to perform function / activity	true	Inferred relationship	Some	4
Intellectual disability, epilepsy, extrapyramidal syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Intellectual disability, epilepsy, extrapyramidal syndrome	Occurrence	Infancy	true	Inferred relationship	Some	1
Intellectual disability, epilepsy, extrapyramidal syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Intellectual disability, epilepsy, extrapyramidal syndrome	Occurrence	Infancy	true	Inferred relationship	Some	2
Intellectual disability, epilepsy, extrapyramidal syndrome	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	2
Intellectual disability, epilepsy, extrapyramidal syndrome	Occurrence	Infancy	true	Inferred relationship	Some	3
Intellectual disability, epilepsy, extrapyramidal syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Intellectual disability, epilepsy, extrapyramidal syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Intellectual disability, epilepsy, extrapyramidal syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Intellectual disability, epilepsy, extrapyramidal syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Intellectual disability, epilepsy, extrapyramidal syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	Motor function	true	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Interprets	Motor function	true	Inferred relationship	Some	8

Inbound Relationships

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Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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