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 |
| 3313421013 | A recently described syndrome with characteristics of severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. This syndrome is caused by an interstitial deletion encompassing 14q12. They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402153012 | 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402154018 | 14q12 microdeletion syndrome is a recently described syndrome characterised by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3313396013 | 14q12 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313397016 | 14q12 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313420014 | Monosomy 14q12 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Is a | Anomaly of chromosome pair 14 | false | Inferred relationship | Some | ||
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Is a | Deletion of part of autosome | false | Inferred relationship | Some | ||
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Finding site | Chromosome pair 14 | true | Inferred relationship | Some | 2 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Finding site | Chromosome pair 14 | false | Inferred relationship | Some | 3 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Associated morphology | Deletion of long arm | false | Inferred relationship | Some | 3 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Is a | Deletion of part of chromosome 14 (disorder) | false | Inferred relationship | Some | ||
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Is a | Partial deletion of long arm of chromosome 14 (disorder) | true | Inferred relationship | Some | ||
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR