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 |
| 3314293013 | Chromosome Xq27.3q28 duplication syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3314294019 | Chromosome Xq27.3q28 duplication syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3314295018 | A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Is a | Duplication of chromosome | false | Inferred relationship | Some | ||
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Is a | Trisomy and partial trisomy of autosome | false | Inferred relationship | Some | ||
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Associated morphology | Chromosomal morphology | false | Inferred relationship | Some | 1 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Finding site | Sex chromosome X | false | Inferred relationship | Some | 1 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 2 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Chromosome Xq27.3q28 duplication syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR