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 |
| 3302294013 | In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302295014 | In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behavior. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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