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773673002: Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)


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


0 descendants.

Expanded Value Set


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

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