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 |
| 8136491000146114 | X-gebonden verstandelijke beperking door mutaties van ionotrope glutamaatreceptor AMPA-type subeenheid 3 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8136501000146116 | X-gebonden verstandelijke handicap door GRIA3-mutaties | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8136511000146119 | X-gebonden mentale retardatie door GRIA3-mutaties | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8136521000146112 | X-gebonden verstandelijke beperking door mutaties van ionotrope glutamaatreceptor AMPA-type subeenheid 3 (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Active | 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 | 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 | true | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR