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719044008: Partial agenesis of pancreas (disorder)


Status: current, 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
3314780016 Partial agenesis of pancreas (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314781017 Partial agenesis of pancreas en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314782012 Partial pancreatic agenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314783019 Partial agenesis of the pancreas is an absence of a critical mass of pancreatic tissue. It is a rare disorder with only around 50 cases being reported in the literature so far. The severity of the disease depends on the amount of functional pancreatic tissue present. Pancreatic agenesis is commonly associated with other malformations, in particular pancreaticobiliary duct anomalies or more rarely, polysplenia. In the majority of cases, patients are diagnosed after reporting abdominal pain. Agenesis of the dorsal pancreas usually manifests as diabetes. Pancreatic agenesis has been associated with mutations in the PDX1 gene (13q12.1), which encodes the insulin promoter factor-1 (IPF-1) transcription factor. 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
Partial agenesis of pancreas (disorder) Is a Congenital absence of pancreas true Inferred relationship Some
Partial agenesis of pancreas (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Partial agenesis of pancreas (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Partial agenesis of pancreas (disorder) Occurrence Congenital true Inferred relationship Some 1
Partial agenesis of pancreas (disorder) Finding site Pancreas part false Inferred relationship Some 1
Partial agenesis of pancreas (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Partial agenesis of pancreas (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Partial agenesis of pancreas (disorder) Is a Congenital malformation of pancreas false Inferred relationship Some
Partial agenesis of pancreas (disorder) Finding site Pancreatic structure true Inferred relationship Some 1
Partial agenesis of pancreas (disorder) Associated morphology Aplasia true Inferred relationship Some 1
Partial agenesis of pancreas (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Partial agenesis of pancreas (disorder) Is a 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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