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771223000: Infantile epileptic dyskinetic encephalopathy (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3705166014 Infantile epileptic dyskinetic encephalopathy en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Infantile epileptic dyskinetic encephalopathy Interprets Movement true Inferred relationship Some 3
Infantile epileptic dyskinetic encephalopathy Is a X-linked recessive hereditary disease true Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy Finding site Extrapyramidal system structure true Inferred relationship Some 1
Infantile epileptic dyskinetic encephalopathy Is a Dystonia true Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy Is a X-linked hereditary disease false Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy Finding site Structure of cerebrum true Inferred relationship Some 2
Infantile epileptic dyskinetic encephalopathy Is a Epileptic encephalopathy true Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy Is a Hereditary disorder of nervous system 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

Problem/Diagnosis reference set

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