725163002: X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie (aandoening)

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

6960511000146117 X-gebonden syndroom van spasticiteit, mentale retardatie en epilepsie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7495481000146115 X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7718581000146119 X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7797431000146116 X-gebonden syndroom van spasticiteit, verstandelijke handicap en epilepsie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) 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 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	mentale retardatie	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
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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
6960511000146117	X-gebonden syndroom van spasticiteit, mentale retardatie en epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495481000146115	X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7718581000146119	X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7797431000146116	X-gebonden syndroom van spasticiteit, verstandelijke handicap en epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core