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783702009: X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3759775016 X-linked intellectual disability due to GRIA3 mutations en Synonym Active Entire term case sensitive SNOMED CT core module
3759776015 X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations en Synonym Active Entire term case sensitive SNOMED CT core module
3759777012 X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Finding site Face structure true Inferred relationship Existential restriction modifier 1
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Is a Intellectual disability true Inferred relationship Existential restriction modifier
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Occurrence Congenital true Inferred relationship Existential restriction modifier 1
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Has interpretation Impaired true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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