Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3725616010 | Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725617018 | Hypoplastic pancreas, intestinal atresia, hypoplastic gallbladder syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725618011 | Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725619015 | A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725620014 | A rare potentially fatal genetic visceral malformation syndrome characterised by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinaemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | localisation d'une constatation (attribut) | vésicule biliaire (structure corporelle) | true | Inferred relationship | Some | 2 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | localisation d'une constatation (attribut) | structure du pancréas | true | Inferred relationship | Some | 3 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | est un(e) (attribut) | Congenital hypoplasia of gallbladder | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | est un(e) (attribut) | Congenital hypoplasia of pancreas | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | localisation d'une constatation (attribut) | intestins | true | Inferred relationship | Some | 1 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | est un(e) (attribut) | Congenital atresia of intestinal tract | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets