Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4669041016 | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4669042011 | STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4669043018 | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4669044012 | STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4669045013 | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13250401000146116 | syndroom van 'stromal antigen 1'-gerelateerde verstandelijke beperking, faciale dysmorfie en gastro-oesofageale reflux | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13250411000146119 | syndroom van STAG1-gerelateerde verstandelijke handicap, faciale dysmorfie en GOR | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13250421000146112 | syndroom van STAG1-gerelateerde mentale retardatie, faciale dysmorfie en gastro-oesofageale reflux | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13250431000146114 | syndroom van 'stromal antigen 1'-gerelateerde verstandelijke beperking, faciale dysmorfie en gastro-oesofageale reflux (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13250441000146118 | syndroom van STAG1-gerelateerde verstandelijke beperking, faciale dysmorfie en gastro-oesofageale reflux | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4669046014 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, variable degrees of intellectual disability and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastrooesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4669047017 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR