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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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 generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Symptomatic generalised 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 generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome

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

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

\Generalised epilepsy\Symptomatic generalised 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\Intellectual ability - finding\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome

\Muscle finding\Muscle tone - finding\Hypertonia\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome

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

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

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

\Generalised epilepsy\Symptomatic generalised 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\Neurological disorder\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Myopathy\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Symptomatic generalised epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Symptomatic generalised 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, Primitive. 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 Case sensitive SNOMED CT core

3440998011 X-linked spasticity, intellectual disability, epilepsy syndrome en Synonym Active Case sensitive SNOMED CT core

3440999015 This syndrome is characterized by myoclonic epilepsy with generalized spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13). en Definition Active Case sensitive SNOMED CT core

3441000016 This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3440997018	X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3440998011	X-linked spasticity, intellectual disability, epilepsy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3440999015	This syndrome is characterized by myoclonic epilepsy with generalized spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).	en	Definition	Active	Case sensitive	SNOMED CT core
3441000016	This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).	en	Definition	Active	Case sensitive	SNOMED CT core