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719043002: Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401936019 A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401937011 A rare multiple congenital anomalies characterised by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheooesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314775013 Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314776014 Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314777017 Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-oesophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314778010 VACTERL syndrome with hydrocephalus en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
7600041000241114 syndrome de VACTERL (vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect) avec hydrocéphalie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7600051000241112 syndrome d'anomalies vertébrales, atrésie anale, cardiopathie congénitale, fistule trachéo-œsophagienne, troubles rénaux et anomalies des membres avec hydrocéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445461001000119 VACTERL-Assoziation mit Hydrozephalus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Is a Congenital hydrocephalus true Inferred relationship Some
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Is a Multiple system malformation syndrome true Inferred relationship Some
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Is a Hereditary disorder of nervous system true Inferred relationship Some
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Associated morphology Congenital dilatation false Inferred relationship Some 1
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Occurrence Congenital true Inferred relationship Some 1
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 1
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Associated morphology Dilatation true Inferred relationship Some 1
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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