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717223008: X-linked epilepsy with learning disability and behavior disorder syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308719012 X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308720018 X-linked epilepsy with learning disability and behavior disorder syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308721019 X-linked epilepsy with learning disability and behaviour disorder syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401513017 X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401514011 X-linked epilepsy-learning disabilities-behaviour disorders syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a Developmental academic disorder true Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a Disruptive behavior disorder true Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a Epilepsy true Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Finding site Cerebrum false Inferred relationship Some 1
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Has definitional manifestation Seizure false Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Finding site Brain structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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