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 |
3320635015 | Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3320636019 | Cystic fibrosis with gastritis and megaloblastic anemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322185018 | Cystic fibrosis with gastritis and megaloblastic anaemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322186017 | Lubani Al-Saleh Teebi syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402308019 | A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402309010 | A rare genetic disease characterised by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, and intellectual disability. There have been no further descriptions in the literature since 1991. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Due to | Folic acid deficiency | true | Inferred relationship | Some | 3 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Megaloblastic anemia due to folate deficiency | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Cystic fibrosis | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Helicobacter pylori gastrointestinal tract infection | false | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Hereditary red blood cell disorder (disorder) | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Gastritis caused by Helicobacter pylori (disorder) | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 5 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Has definitional manifestation | Erythropenia | false | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Has interpretation | Below reference range | false | Inferred relationship | Some | 6 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 7 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Causative agent | Helicobacter pylori | true | Inferred relationship | Some | 7 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Finding site | Stomach structure | true | Inferred relationship | Some | 7 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Pathological process (attribute) | Infectious process (qualifier value) | true | Inferred relationship | Some | 7 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Has interpretation | Below reference range | false | Inferred relationship | Some | 8 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Interprets | Red blood cell count | false | Inferred relationship | Some | 6 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Interprets | Measurement of total haemoglobin concentration | false | Inferred relationship | Some | 8 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Associated morphology | Defect | false | Inferred relationship | Some | 1 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Finding site | Respiratory tract structure | true | Inferred relationship | Some | 1 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Interprets | Mucociliary clearance | true | Inferred relationship | Some | 2 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Gastrointestinal complication | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Is a | Respiratory complication | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)