Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3316813015 | 17q11.2 microduplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316814014 | 17q11.2 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316815010 | Trisomy 17q11.2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316816011 | Grisart Destree syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317001017 | Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 17q11.2 microduplication syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| 17q11.2 microduplication syndrome (disorder) | Is a | 17q partial trisomy syndrome | true | Inferred relationship | Some | ||
| 17q11.2 microduplication syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| 17q11.2 microduplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| 17q11.2 microduplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 17q11.2 microduplication syndrome (disorder) | Finding site | Chromosome pair 17 | true | Inferred relationship | Some | 1 | |
| 17q11.2 microduplication syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| 17q11.2 microduplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| 17q11.2 microduplication syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 17q11.2 microduplication syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| 17q11.2 microduplication syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| 17q11.2 microduplication syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| 17q11.2 microduplication syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR