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773673002: syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas (aandoening)


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
6845711000146118 syndroom van hypoplastische pancreas, intestinale atresie en hypoplastische galblaas nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7853481000146118 syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7853491000146116 syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) 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 atresie (afwijkende morfologie) false 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
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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