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 |
| 3317474016 | 8p11.2 deletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317475015 | 8p11.2 deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317476019 | Monosomy 8p11.2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317477011 | A contiguous gene syndrome with characteristics of the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. It has been described in 8 patients to date. Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 8p11.2 deletion syndrome (disorder) | Is a | 8p partial monosomy syndrome | true | Inferred relationship | Some | ||
| 8p11.2 deletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 8p11.2 deletion syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 2 | |
| 8p11.2 deletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 8p11.2 deletion syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 3 | |
| 8p11.2 deletion syndrome (disorder) | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 2 | |
| 8p11.2 deletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR