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 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\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\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\Congenital disease (disorder)\Congenital malformation\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

3302911012 Rare syndrome with manifestations of mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus also reported. So far, it has been described in four unrelated infants, it is 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

1015851000172111 syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1008411000172118 spiegelpolydactylie, vertebrale segmentatie, ledemaatdefectensyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Is a	congenitaal malformatiesyndroom met betrokkenheid van extremiteit	false	Inferred relationship	Some
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	2
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	2
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	3
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	2
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	1
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
3302911012	Rare syndrome with manifestations of mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus also reported. So far, it has been described in four unrelated infants, it is 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
1015851000172111	syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1008411000172118	spiegelpolydactylie, vertebrale segmentatie, ledemaatdefectensyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)