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 |
| 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 | Inactive | 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 | Inactive | 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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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. | Due to | Folic acid deficiency | true | Inferred relationship | Some | 3 | |
| 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. | Is a | Megaloblastic anemia due to folate deficiency | true | Inferred relationship | Some | ||
| 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. | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| 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. | Is a | mental retardering | false | Inferred relationship | Some | ||
| 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. | Is a | Cystic fibrosis | true | Inferred relationship | Some | ||
| 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. | Is a | Helicobacter pylori gastrointestinal tract infection | false | Inferred relationship | Some | ||
| 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. | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Hereditary red blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| 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. | Is a | Gastritis caused by Helicobacter pylori (disorder) | true | Inferred relationship | Some | ||
| 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. | Finding site | Erythrocyte | true | Inferred relationship | Some | 5 | |
| 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. | Has definitional manifestation | Erytrocytopeni | false | Inferred relationship | Some | ||
| 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. | Has interpretation | Below reference range | false | Inferred relationship | Some | 6 | |
| 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. | Associated morphology | Inflammation | false | Inferred relationship | Some | 7 | |
| 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. | Causative agent | Helicobacter pylori | true | Inferred relationship | Some | 7 | |
| 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. | Finding site | Stomach structure | true | Inferred relationship | Some | 7 | |
| 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. | Pathological process (attribute) | Infectious process (qualifier value) | true | Inferred relationship | Some | 7 | |
| 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. | Has interpretation | Below reference range | false | Inferred relationship | Some | 8 | |
| 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. | Interprets | Red blood cell count | false | Inferred relationship | Some | 6 | |
| 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. | Interprets | Measurement of total haemoglobin concentration | false | Inferred relationship | Some | 8 | |
| 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. | Associated morphology | Defekt | false | Inferred relationship | Some | 1 | |
| 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. | Finding site | Respiratory tract structure | true | Inferred relationship | Some | 1 | |
| 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. | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| 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. | Interprets | Mucociliary clearance | true | Inferred relationship | Some | 2 | |
| 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. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| 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. | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
| 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. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Gastrointestinal complication | true | Inferred relationship | Some | ||
| 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. | Is a | Respiratory complication | true | Inferred relationship | Some | ||
| 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. | Interprets | Intellectual ability | true | Inferred relationship | Some | 6 | |
| 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. | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| 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. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
| 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. | 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)
FHIR