719044008: Partial agenesis of pancreas (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis

\Digestive system finding\Finding of pancreas\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Partial pancreatic agenesis
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Partial pancreatic agenesis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Partial pancreatic agenesis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Partial pancreatic agenesis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Partial pancreatic agenesis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Partial pancreatic agenesis
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Partial pancreatic agenesis
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Partial pancreatic agenesis
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Partial pancreatic agenesis
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Developmental disorder\Developmental hereditary disorder\Partial pancreatic agenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of pancreas\Congenital absence of pancreas\Partial pancreatic agenesis

Status: current, Defined. 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 Case insensitive SNOMED CT core

3314781017 Partial agenesis of pancreas en Synonym Active Case insensitive SNOMED CT core

3314782012 Partial pancreatic agenesis en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial pancreatic agenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Partial pancreatic agenesis	Is a	Congenital anomaly of pancreas	false	Inferred relationship	Some
Partial pancreatic agenesis	Finding site	Pancreatic structure	true	Inferred relationship	Some	1
Partial pancreatic agenesis	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Partial pancreatic agenesis	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Partial pancreatic agenesis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Partial pancreatic agenesis	Is a	Congenital absence of pancreas	true	Inferred relationship	Some
Partial pancreatic agenesis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Partial pancreatic agenesis	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Partial pancreatic agenesis	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial pancreatic agenesis	Finding site	Pancreas part	false	Inferred relationship	Some	1
Partial pancreatic agenesis	Is a	Digestive system 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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314780016	Partial agenesis of pancreas (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3314781017	Partial agenesis of pancreas	en	Synonym	Active	Case insensitive	SNOMED CT core
3314782012	Partial pancreatic agenesis	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core