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1172589000: Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634492010 Gershoni Baruch syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634494011 Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634495012 Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634493017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635740010 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, generalised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Is a Congenital omphalocele true Inferred relationship Some
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Is a Genetic disease true Inferred relationship Some
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Finding site Umbilical structure true Inferred relationship Some 1
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Some 1
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence Congenital true Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Finding site Structure of organ within abdominopelvic cavity (body structure) false Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence Congenital true Inferred relationship Some 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Finding site Limb structure true Inferred relationship Some 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence Congenital true Inferred relationship Some 4
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Finding site Face structure true Inferred relationship Some 4
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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