Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2018. Module: SNOMED CT core module
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 | SNOMED CT core module |
3505251017 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3505252012 | Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3505253019 | ATR-16 syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
3505254013 | Alpha thalassemia intellectual disability syndrome, deletion type | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3505255014 | Alpha thalassaemia intellectual disability syndrome, deletion type | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Is a | Alpha thalassemia | true | Inferred relationship | Existential restriction modifier | ||
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Is a | Deletion of part of short arm of chromosome 16 | true | Inferred relationship | Existential restriction modifier | ||
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 5 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Finding site | Chromosome pair 16 | false | Inferred relationship | Existential restriction modifier | 5 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 6 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 7 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 8 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Interprets | Measurement of total hemoglobin concentration | true | Inferred relationship | Existential restriction modifier | 8 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 9 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Interprets | Red blood cell count | true | Inferred relationship | Existential restriction modifier | 9 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Associated morphology | Deletion of short arm | false | Inferred relationship | Existential restriction modifier | 6 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Finding site | Chromosome pair 16 | false | Inferred relationship | Existential restriction modifier | 6 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Finding site | Erythrocyte | true | Inferred relationship | Existential restriction modifier | 7 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Associated morphology | Partial monosomy | false | Inferred relationship | Existential restriction modifier | 5 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Finding site | Short arm of chromosome | true | Inferred relationship | Existential restriction modifier | 1 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Associated morphology | Partial monosomy | true | Inferred relationship | Existential restriction modifier | 2 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Is a | Congenital malformation | true | Inferred relationship | Existential restriction modifier | ||
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Finding site | Chromosome pair 16 | true | Inferred relationship | Existential restriction modifier | 2 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Associated morphology | Partial monosomy | true | Inferred relationship | Existential restriction modifier | 1 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Is a | Congenital anemia | true | Inferred relationship | Existential restriction modifier | ||
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 6 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 3 | |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets