Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643031010 | Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643032015 | Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5404105012 | A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404106013 | A developmental anomaly characterised at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Is a | Right aortic arch | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Associated morphology | Transposition, right | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Finding site | Aortic arch structure | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability 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)