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 |
1017281000172114 | syndrome de Lubani-Al Saleh-Teebi | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 |
755271000241118 | syndrome de mucoviscidose-gastrite-anémie mégaloblastique (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
936681000172112 | syndrome de mucoviscidose-gastrite-anémie mégaloblastique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | morphologie associée (attribut) | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Gastrointestinal complication | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Respiratory complication | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | Due to | carence en acide folique | true | Inferred relationship | Some | 3 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | anémie causée par une carence en acide folique | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Cystic fibrosis | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | infection du tractus gastro-intestinal par Helicobacter pylori | false | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Hereditary red blood cell disorder (disorder) | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Gastritis caused by Helicobacter pylori (disorder) | true | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | localisation d'une constatation (attribut) | Erythrocyte | true | Inferred relationship | Some | 5 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est défini par la manifestation de (attribut) | Erythropenia | false | Inferred relationship | Some | ||
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | false | Inferred relationship | Some | 6 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | morphologie associée (attribut) | 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) | localisation d'une constatation (attribut) | structure de l'estomac | 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) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | false | Inferred relationship | Some | 8 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | interprète (attribut) | Red blood cell count | false | Inferred relationship | Some | 6 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | interprète (attribut) | Measurement of total haemoglobin concentration | false | Inferred relationship | Some | 8 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | morphologie associée (attribut) | Defect | true | Inferred relationship | Some | 1 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | localisation d'une constatation (attribut) | structure des voies respiratoires | true | Inferred relationship | Some | 1 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 2 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | interprète (attribut) | Mucociliary clearance | true | Inferred relationship | Some | 2 | |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets