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780827006: Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3743659014 A neurological disorder with characteristics of moderate to severe intellectual disability that is evident in early childhood. Early manifestations include delayed development of speech and motor skills, hypotonia, developmental regression, recurrent epilepsy, hyperactivity and autism spectrum disorder. Caused by mutations in the SYNGAP1 gene preventing the production of functional SynGAP protein from one copy of the gene which results in reduced protein activity in cells. May be inherited in an autosomal dominant manner or as a new mutation in the gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3743656019 SYNGAP1-related intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3743657011 Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3743658018 Synaptic Ras GTPase activating protein 1- related intellectual disability en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    7658731000241110 syndrome MRD5 (mental retardation autosomal dominant 5) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    7658741000241117 déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Is a Childhood seizure false Inferred relationship Some
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Occurrence Early childhood (qualifier value) false Inferred relationship Some 1
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Is a Intellectual disability false Inferred relationship Some
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Is a A disease of the brain characterized by an enduring predisposition to generate epileptic seizures. false Inferred relationship Some
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) 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 Some 1
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Is a Mental disorder in childhood false Inferred relationship Some
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Interprets Intellectual ability false Inferred relationship Some 2
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Has interpretation Impaired false Inferred relationship Some 2
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Interprets Adaptation behavior (observable entity) false Inferred relationship Some 3
    déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Has interpretation Impaired false Inferred relationship Some 3
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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