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
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

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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