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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3725617018 Hypoplastic pancreas, intestinal atresia, hypoplastic gallbladder syndrome en Synonym Active Case insensitive SNOMED CT core
3725618011 Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive 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 Is a Digestive system hereditary disorder true Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Associated morphology Congenital atresia true Inferred relationship Some 1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Occurrence Congenital true Inferred relationship Some 2
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Finding site Gallbladder structure true Inferred relationship Some 2
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Finding site Pancreatic structure true Inferred relationship Some 3
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Associated morphology Hypoplasia true Inferred relationship Some 2
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a Congenital hypoplasia of gallbladder true Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Associated morphology Hypoplasia true Inferred relationship Some 3
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a Congenital hypoplasia of pancreas true Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Occurrence Congenital true Inferred relationship Some 1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Occurrence Congenital true Inferred relationship Some 3
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Finding site Intestinal structure true Inferred relationship Some 1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a Congenital atresia of intestinal tract true Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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