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1222656005: Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (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
5048332018 Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048333011 SYNGAP1-related developmental and epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048334017 Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5399986014 A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399987017 A rare genetic developmental and epileptic encephalopathy (DEE) characterised by developmental delay, generalised epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048332018 Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048333011 SYNGAP1-related developmental and epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048334017 Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048335016 A rare genetic developmental and epileptic encephalopathy with characteristics of developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). The SYNGAP1 gene (6p21.32) encodes the synaptic Ras-GTPase-activating protein 1, mainly expressed in the synapses of excitatory neurons. Loss of function mutations in SYNGAP1 impairs neuronal homeostasis and development. This disorder is caused by heterozygous pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions encompassing the SYNGAP1 gene. The pattern of inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048336015 A rare genetic developmental and epileptic encephalopathy with characteristics of developmental delay, generalised epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). The SYNGAP1 gene (6p21.32) encodes the synaptic Ras-GTPase-activating protein 1, mainly expressed in the synapses of excitatory neurons. Loss of function mutations in SYNGAP1 impairs neuronal homeostasis and development. This disorder is caused by heterozygous pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions encompassing the SYNGAP1 gene. The pattern of inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399986014 A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399987017 A rare genetic developmental and epileptic encephalopathy (DEE) characterised by developmental delay, generalised epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3444201001000115 SYNGAP1-assoziierte Entwicklungsverzögerung mit epileptischer Enzephalopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444201001000115 SYNGAP1-assoziierte Entwicklungsverzögerung mit epileptischer Enzephalopathie 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
SYNGAP1-related developmental and epileptic encephalopathy Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a A type of epilepsy characterized by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying etiology is thought to be the only cause of developmental impairment. false Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy 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) 1
SYNGAP1-related developmental and epileptic encephalopathy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
SYNGAP1-related developmental and epileptic encephalopathy Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
SYNGAP1-related developmental and epileptic encephalopathy Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
SYNGAP1-related developmental and epileptic encephalopathy Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
SYNGAP1-related developmental and epileptic encephalopathy Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
SYNGAP1-related developmental and epileptic encephalopathy Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
SYNGAP1-related developmental and epileptic encephalopathy Is a Developmental and epileptic encephalopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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