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

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

Descriptions:

Id Description Lang Type Status Case? Module
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
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
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Is a Childhood seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Occurrence Early childhood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) 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. true Inferred relationship Existential restriction modifier (core metadata concept) 1
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Is a Mental disorder in childhood false Inferred relationship Existential restriction modifier (core metadata concept)
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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