| congenitaal syndroom van omfalocele, hernia diaphragmatica, cardiovasculaire afwijkingen en radiusdefect (aandoening) | | congenitaal syndroom van omfalocele, hernia diaphragmatica, 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
aangeboren syndroom van navelstrengbreuk, middenrifbreuk, cardiovasculaire afwijkingen en radiusdefect
| | 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. |
| | Id | 1172589000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 496693 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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