725163002: X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

\General finding of soft tissue\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

\Muscle finding\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

\Musculoskeletal finding\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3440997018 X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3440998011 X-linked spasticity, intellectual disability, epilepsy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403430012 A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403431011 A rare ARX-related epileptic encephalopathy characterised by infantile onset of myoclonic epilepsy with generalised spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalised hyperreflexia. Late onset progressive spastic ataxia has also been reported. 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
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Myoclonic encephalopathy	true	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Spasticity	true	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	2
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	3
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Has interpretation	Increased	true	Inferred relationship	Some	4
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Interprets	Muscle tone	true	Inferred relationship	Some	4
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

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
3440997018	X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440998011	X-linked spasticity, intellectual disability, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403430012	A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403431011	A rare ARX-related epileptic encephalopathy characterised by infantile onset of myoclonic epilepsy with generalised spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalised hyperreflexia. Late onset progressive spastic ataxia has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core