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784342008: Familial infantile myoclonic epilepsy (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3763690018 Familial infantile myoclonus epilepsy en Synonym Active Case insensitive SNOMED CT core
3763691019 FIME - familial infantile myoclonic epilepsy en Synonym Active Case sensitive SNOMED CT core
3763692014 Familial infantile myoclonic epilepsy en Synonym Active Case insensitive SNOMED CT core
3763693016 Familial infantile myoclonic epilepsy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3763694010 A rare genetic infantile epilepsy syndrome disease with characteristics of neonatal to infancy onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial infantile myoclonic epilepsy Is a Myoclonic seizure false Inferred relationship Some
Familial infantile myoclonic epilepsy Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Familial infantile myoclonic epilepsy Finding site Structure of cerebrum true Inferred relationship Some 1
Familial infantile myoclonic epilepsy Is a Hereditary disorder of nervous system true Inferred relationship Some
Familial infantile myoclonic epilepsy Occurrence Infancy true Inferred relationship Some 1
Familial infantile myoclonic epilepsy Is a Familial disease true Inferred relationship Some
Familial infantile myoclonic epilepsy Interprets Movement false Inferred relationship Some 2
Familial infantile myoclonic epilepsy Is a Generalised epilepsy true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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