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 |
3322194012 | A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of 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 |
3322195013 | A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of 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 |
This concept is not in any reference sets