Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5400832014 | A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400833016 | A rare X-linked syndromic intellectual disability characterised by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302289013 | Alpha thalassemia X-linked intellectual disability syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302290016 | Alpha thalassemia X-linked intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302291017 | Alpha thalassaemia X-linked intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302292012 | Alpha thalassemia X-linked intellectual deficit | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302293019 | Alpha thalassaemia X-linked intellectual deficit | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Is a | Alpha thalassemia (disorder) | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Is a | X-linked hereditary disease (disorder) | false | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Finding site | Erythrocyte | false | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Has definitional manifestation | Erytrocytopeni | false | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Interprets | Measurement of total haemoglobin concentration | false | Inferred relationship | Some | 1 | |
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Interprets | Red blood cell count | false | Inferred relationship | Some | 2 | |
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Finding site | Erythrocyte | true | Inferred relationship | Some | 3 | |
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 2 | |
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Is a | Congenital anemia | true | Inferred relationship | Some | ||
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. | Interprets | Red blood cell count | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR