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 |
766251000241110 | syndrome d'arc aortique anormal-dysmorphie-déficience intellectuelle (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
869301000172117 | syndrome d'arc aortique anormal-dysmorphie-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3643033013 | A developmental anomaly with characteristics as birth 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) | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | est un(e) (attribut) | Right aortic arch | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Transposition, right | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | arc aortique (structure corporelle) | true | Inferred relationship | Some | 2 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets