1222660008: Pancreatic agenesis, holoprosencephaly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Digestive system finding (finding)\constatation à propos du pancréas\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\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 (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\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 (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\holoprosencéphalie (trouble)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Genetic disease\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection du tronc\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 (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\affection de la tête\Congenital anomaly of head\holoprosencéphalie (trouble)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\holoprosencéphalie (trouble)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\holoprosencéphalie (trouble)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease\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 (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\holoprosencéphalie (trouble)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\holoprosencéphalie (trouble)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\trouble du développement\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 (disorder)\Pancreatic agenesis, holoprosencephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Agenesis of pancreas (disorder)\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

Back to Start