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784342008: Familial infantile myoclonic epilepsy (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3763690018 Familial infantile myoclonus epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3763691019 FIME - familial infantile myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3763692014 Familial infantile myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3763693016 Familial infantile myoclonic epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 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 Generalized epilepsy false Inferred relationship Some
Familial infantile myoclonic epilepsy Is a Epilepsy true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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