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Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome (disorder)
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome
Gershoni Baruch syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.
congenitaal syndroom van omfalocele, hernia diaphragmatica, cardiovasculaire afwijkingen en radiusdefect
aangeboren syndroom van navelstrengbreuk, middenrifbreuk, cardiovasculaire afwijkingen en radiusdefect
aangeboren syndroom van hernia funiculi umbilicalis, hernia diaphragmatica, cardiovasculaire afwijkingen en radiusdefect
aangeboren syndroom van omfalokèle, middenrifbreuk, cardiovasculaire afwijkingen en radiusdefect
Id1172589000
StatusPrimitive
Associated morphologyHernial opening
Finding siteUmbilical structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHernia
Finding siteOrgan within abdominopelvic cavity
OccurrenceCongenital
Associated morphologyMorphologically abnormal structure
Finding siteLimb structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified