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1228857005: Progressive myoclonic epilepsy type 9 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5063469013 Progressive myoclonic epilepsy type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063470014 Progressive myoclonic epilepsy type 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063471013 Progressive myoclonic epilepsy due to LMNB2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5063472018 Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5063473011 Progressive myoclonus epilepsy type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5245428014 PME (progressive myoclonic epilepsy) type 9 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400040016 A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400041017 A rare, genetic, neurological disorder characterised by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5063469013 Progressive myoclonic epilepsy type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063470014 Progressive myoclonic epilepsy type 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063471013 Progressive myoclonic epilepsy due to LMNB2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5063472018 Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5063473011 Progressive myoclonus epilepsy type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063474017 PME type 9 - progressive myoclonic epilepsy type 9 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5245428014 PME (progressive myoclonic epilepsy) type 9 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5063475016 A rare genetic neurological disorder with characteristics of childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts and simplified gyration (frontally). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400040016 A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400041017 A rare, genetic, neurological disorder characterised by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3451401001000119 Myoklonusepilepsie, progressive, Typ 9 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451401001000119 Myoklonusepilepsie, progressive, Typ 9 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive myoclonic epilepsy type 9 Is a Progressive myoclonic epilepsy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 9 Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 9 Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 9 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 9 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive myoclonic epilepsy type 9 Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive myoclonic epilepsy type 9 Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive myoclonic epilepsy type 9 Is a Movement disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 9 Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

GB English

US English

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