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

SNOMED CT Concept\Clinical finding\...

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

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

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome

\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome

\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome

\Muscle finding\Finding of muscle tone\Increased muscle tone\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome
\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome

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

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome

\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked spasticity, intellectual disability, epilepsy syndrome
\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked spasticity, intellectual disability, epilepsy syndrome

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

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 SNOMED CT core module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	Myoclonic encephalopathy	true	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	Spasticity	true	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	2
X-linked spasticity, intellectual disability, epilepsy syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	3
X-linked spasticity, intellectual disability, epilepsy syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Has interpretation	Increased	true	Inferred relationship	Existential restriction modifier	4
X-linked spasticity, intellectual disability, epilepsy syndrome	Interprets	Muscle tone	true	Inferred relationship	Existential restriction modifier	4
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
X-linked spasticity, intellectual disability, epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
X-linked spasticity, intellectual disability, epilepsy syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
X-linked spasticity, intellectual disability, epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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