Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697296018 | Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697297010 | Intellectual disability, loss of expressive language, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697298017 | Intellectual disability, expressive aphasia, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399770014 | A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399771013 | A rare genetic syndromic intellectual disability characterised by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioural difficulties, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Is a | Expressive dysphasia | true | Inferred relationship | Some | ||
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Interprets | Speech observable | true | Inferred relationship | Some | 2 | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR