Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3505250016 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3505251017 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3505252012 | Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3505253019 | ATR-16 syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3505254013 | Alpha thalassemia intellectual disability syndrome, deletion type | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3505255014 | Alpha thalassaemia intellectual disability syndrome, deletion type | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3505256010 | A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin level or mild anemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3505257018 | A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterised by microcytosis, hypochromia, normal haemoglobin level or mild anaemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 986591000172118 | syndrome ATR associé au chromosome 16 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1005791000172114 | syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Is a | Alpha thalassemia (disorder) | true | Inferred relationship | Some | ||
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Is a | retard mental | false | Inferred relationship | Some | ||
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Is a | Deletion of part of short arm of chromosome 16 (disorder) | true | Inferred relationship | Some | ||
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Finding site | Chromosome pair 16 | false | Inferred relationship | Some | 5 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 8 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 8 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 9 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 9 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Associated morphology | Deletion of short arm | false | Inferred relationship | Some | 6 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Finding site | Chromosome pair 16 | false | Inferred relationship | Some | 6 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 7 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some | ||
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Finding site | Chromosome pair 16 | true | Inferred relationship | Some | 2 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Is a | Congenital anemia | true | Inferred relationship | Some | ||
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | 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