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93259002: Congenital hypoplasia of gallbladder (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
154308016 Congenital hypoplasia of gallbladder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
154309012 Congenital small gallbladder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
836954016 Congenital hypoplasia of gallbladder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1235787018 Hypoplasia of gallbladder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1431791000005113 Kongenit galdeblærehypoplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of gallbladder Is a Congenital anomaly of gallbladder true Inferred relationship Some
Congenital hypoplasia of gallbladder Associated morphology dysgenese false Inferred relationship Some 1
Congenital hypoplasia of gallbladder Finding site Gallbladder structure (body structure) true Inferred relationship Some 1
Congenital hypoplasia of gallbladder Associated morphology kongenit hypoplasi false Inferred relationship Some 1
Congenital hypoplasia of gallbladder Occurrence Congenital false Inferred relationship Some
Congenital hypoplasia of gallbladder Finding site Digestive organ structure false Inferred relationship Some 1
Congenital hypoplasia of gallbladder Is a Congenital malformation false Inferred relationship Some
Congenital hypoplasia of gallbladder Occurrence Congenital false Inferred relationship Some
Congenital hypoplasia of gallbladder Finding site Gallbladder structure (body structure) false Inferred relationship Some 1
Congenital hypoplasia of gallbladder Associated morphology kongenit hypoplasi false Inferred relationship Some 1
Congenital hypoplasia of gallbladder Occurrence Congenital false Inferred relationship Some 2
Congenital hypoplasia of gallbladder Finding site Gallbladder structure (body structure) false Inferred relationship Some 2
Congenital hypoplasia of gallbladder Associated morphology Hypoplasia false Inferred relationship Some 2
Congenital hypoplasia of gallbladder Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital hypoplasia of gallbladder Occurrence Congenital true Inferred relationship Some 1
Congenital hypoplasia of gallbladder Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital hypoplasia of gallbladder Is a Congenital anomaly of biliary tract false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True Congenital hypoplasia of gallbladder Inferred relationship Some

This concept is not in any reference sets

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