Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3759775016 | X-linked intellectual disability due to GRIA3 mutations | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759776015 | X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 (core metadata concept) | SNOMED CT core |
| 3760051017 | A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3760052012 | A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408614012 | A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self-injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408615013 | A rare, genetic, X-linked syndromic intellectual disability disorder characterised by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self-injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability due to GRIA3 mutations | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability due to GRIA3 mutations | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability due to GRIA3 mutations | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| X-linked intellectual disability due to GRIA3 mutations | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| X-linked intellectual disability due to GRIA3 mutations | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability due to GRIA3 mutations | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability due to GRIA3 mutations | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability due to GRIA3 mutations | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability due to GRIA3 mutations | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability due to GRIA3 mutations | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability due to GRIA3 mutations | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability due to GRIA3 mutations | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability due to GRIA3 mutations | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability due to GRIA3 mutations | Is a | Genetic intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR