715523005: Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect 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 limb defect as major feature\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Mirror polydactyly, vertebral segmentation and limb defect 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
3302909015	Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302910013	Mirror polydactyly, vertebral segmentation and limb defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400937019	A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400938012	A rare disorder characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening programme carried out in Spain. The prevalence was estimated at around 1 in 330,000. The aetiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	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)

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