Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755485012 | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755486013 | GLOW syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755487016 | GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755488014 | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755489018 | GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumour) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755490010 | Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755491014 | A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755492019 | A rare genetic overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5590481000241117 | retard de développement global, kystes pulmonaires, prolifération, tumeur de Wilms | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Is a | Nephroblastoma | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Is a | Multiple malformation syndrome with early overgrowth | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Is a | Congenital anomaly of face (disorder) | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Is a | Congenital anomaly of lung | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Is a | Lesion of lung (disorder) | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Finding site | Lung structure | true | Inferred relationship | Some | 1 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Finding site | Structure of parenchyma of kidney | true | Inferred relationship | Some | 2 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Associated morphology | Nephroblastoma | true | Inferred relationship | Some | 2 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Is a | Developmental hereditary disorder | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR