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773421009: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (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
3723490014 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723491013 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723492018 A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioural abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723493011 A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. 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
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Occurrence Infancy true Inferred relationship Some 1
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Finding site Temporal lobe structure true Inferred relationship Some 1
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a Temporal lobe epilepsy false Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a Mesial temporal lobe epilepsy (disorder) true Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a Developmental and epileptic encephalopathy true Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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