771223000: Infantile epileptic dyskinetic encephalopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Infantile epileptic dyskinetic encephalopathy (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\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Infantile epileptic dyskinetic encephalopathy (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Infantile epileptic dyskinetic encephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705165013	Infantile epileptic dyskinetic encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705166014	Infantile epileptic dyskinetic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705169019	A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705170018	A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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