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 |
12706011000172113 | syndrome d'hypoplasie pancréatique, atrésie intestinale et hypoplasie de la vésicule biliaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
12706021000172115 | syndrome d'hypoplasie du pancréas, atrésie de l'intestin et hypoplasie de la vésicule biliaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4603641000172110 | syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4603651000172112 | syndroom van hypoplastische pancreas, intestinale atresie en hypoplastische galblaas | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Is a | Digestive system hereditary disorder (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) | Associated morphology | Congenital atresia | true | Inferred relationship | Some | 1 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Finding site | Gallbladder structure | true | Inferred relationship | Some | 2 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Finding site | Pancreatic structure | 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) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Is a | Congenital hypoplasia of gallbladder | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Is a | Congenital hypoplasia of pancreas | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Occurrence | Congenital | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Finding site | Intestinal structure | true | Inferred relationship | Some | 1 | |
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Is a | Congenital atresia of intestinal tract | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets