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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | est un(e) (attribut) | néphroblastome | 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) | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with early overgrowth (disorder) | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of face (disorder) | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du poumon | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | est un(e) (attribut) | Lesion of lung | true | Inferred relationship | Some | ||
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 1 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un poumon | true | Inferred relationship | Some | 1 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | localisation d'une constatation (attribut) | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | morphologie associée (attribut) | Nephroblastoma | true | Inferred relationship | Some | 2 | |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR