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 |
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 |
3431261001000118 | Hypoplastischer Pankreas-Intestinalatresie-Hypoplastische Gallenblase-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6256771000241113 | 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) | SNOMED CT Switzerland NRC maintained Module |
6256781000241110 | 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) | SNOMED CT Switzerland NRC maintained Module |
6256771000241113 | 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) | SNOMED CT Switzerland NRC maintained Module |
6256781000241110 | 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) | SNOMED CT Switzerland NRC maintained Module |
3431261001000118 | Hypoplastischer Pankreas-Intestinalatresie-Hypoplastische Gallenblase-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets