1222660008: Pancreatic agenesis, holoprosencephaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Digestive system finding (finding)\Finding of pancreas\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \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 (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \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 (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \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 (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Genetic disease\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital malformation of pancreas (disorder)\Congenital absence of pancreas\Aplasia of pancreas (disorder)\agénésie pancréatique\Pancreatic agenesis, holoprosencephaly syndrome (disorder)

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
5399994019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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 and dysmorphic craniofacial features, and agenesis of the gallbladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399995018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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 and dysmorphic craniofacial features, and agenesis of the gallbladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5399994019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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 and dysmorphic craniofacial features, and agenesis of the gallbladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399995018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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 and dysmorphic craniofacial features, and agenesis of the gallbladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3435761001000112	Pankreasagenesie-Holoprosenzephalie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435761001000112	Pankreasagenesie-Holoprosenzephalie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start