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717225001: epilepsie myoclonique bénigne familiale de l'adulte (trouble)


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
3308729017 Benign adult familial myoclonic epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308730010 Benign adult familial myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308731014 BAFME - Benign adult familial myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308732019 Autosomal dominant cortical myoclonus and epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308733012 Benign adult familial myoclonus epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
750761000241112 epilepsie myoclonique bénigne familiale de l'adulte (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
878021000172114 epilepsie myoclonique bénigne familiale de l'adulte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
983331000172119 ADCME - autosomal dominant cortical myoclonus and epilepsy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3308734018 An inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308735017 An inherited epileptic syndrome characterised by cortical hand tremors, myoclonic jerks and occasional generalised or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high 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
Benign adult familial myoclonic epilepsy (disorder) interprète (attribut) Movement (observable entity) true Inferred relationship Some 3
Benign adult familial myoclonic epilepsy (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Benign adult familial myoclonic epilepsy (disorder) est un(e) (attribut) Myoclonic seizure true Inferred relationship Some
Benign adult familial myoclonic epilepsy (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Benign adult familial myoclonic epilepsy (disorder) survenue (attribut) Adulthood (qualifier value) true Inferred relationship Some 1
Benign adult familial myoclonic epilepsy (disorder) localisation d'une constatation (attribut) structure du cerveau true Inferred relationship Some 2
Benign adult familial myoclonic epilepsy (disorder) est défini par la manifestation de (attribut) convulsion false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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