1222660008: Pancreatic agenesis, holoprosencephaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Genetic disease\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048352017	Pancreatic agenesis, holoprosencephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048353010	Pancreatic agenesis, holoprosencephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048354016	A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability, dysmorphic craniofacial features and agenesis of the gallbladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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