716230005: Shprintzen Goldberg omphalocele syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele 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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Hernia of abdominal cavity\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Umbilicus finding\Disorder of umbilicus (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Umbilicus finding\Disorder of umbilicus (disorder)\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Hernia of abdominal cavity\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele 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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Hernia of abdominal cavity\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele 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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of body wall\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of body wall (disorder)\Disorder of abdominal wall (disorder)\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of body wall (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of body wall (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of body wall (disorder)\Disorder of abdominal wall (disorder)\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele 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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Disorder of umbilicus (disorder)\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of abdominal wall (disorder)\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Hernia of abdominal cavity\Hernia of anterior abdominal wall (disorder)\Umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of body wall\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \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 anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Shprintzen Goldberg omphalocele syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of anterior abdominal wall\Congenital umbilical defect\Congenital umbilical hernia (disorder)\Congenital omphalocele\Shprintzen Goldberg omphalocele syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305151017	Shprintzen Goldberg omphalocele syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305152012	Shprintzen Goldberg omphalocele syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305153019	Omphalocele syndrome Shprintzen Goldberg type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401269013	Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401270014	Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterised by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

Back to Start