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720953006: Fibular dimelia diplopodia syndrome (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
3322626019 Leg duplication mirror foot syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322628018 Fibular dimelia diplopodia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322629014 Fibular dimelia diplopodia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402526015 A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402527012 A very rare, genetic, congenital limb malformation syndrome characterised by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322626019 Leg duplication mirror foot syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322626019 Leg duplication mirror foot syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322628018 Fibular dimelia diplopodia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322628018 Fibular dimelia diplopodia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322629014 Fibular dimelia diplopodia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322629014 Fibular dimelia diplopodia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322627011 Fibular dimelia accompanied by complete tibial agenesis and mirror polydactyly or foot duplication is a rare developmental anomaly reported in at least 11 cases. It can be isolated or associated with ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. The cause is unknown, but has been suggested that a teratogenic event occurs as developmental specification reaches the level of the future knee. A central role for the mesenchymal precursor, from which chondro-osseous morphology emerges, has also been suggested. Treatment is surgical and prosthesis is needed in order to improve the quality of life of affected children. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402526015 A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402527012 A very rare, genetic, congenital limb malformation syndrome characterised by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3396041001000115 Fibuläre Dimelie-Diplopodie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884621000172115 duplication de la jambe et du pied en miroir fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925411000172113 syndrome de dimélie fibulaire-diplopodie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884621000172115 duplication de la jambe et du pied en miroir fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925411000172113 syndrome de dimélie fibulaire-diplopodie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396041001000115 Fibuläre Dimelie-Diplopodie-Syndrom 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
Fibular dimelia diplopodia syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Fibular dimelia diplopodia syndrome (disorder) Is a Duplication of fibula true Inferred relationship Existential restriction modifier (core metadata concept)
Fibular dimelia diplopodia syndrome (disorder) Is a Congenital anomaly of foot true Inferred relationship Existential restriction modifier (core metadata concept)
Fibular dimelia diplopodia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibular dimelia diplopodia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Fibular dimelia diplopodia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibular dimelia diplopodia syndrome (disorder) Finding site Foot structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibular dimelia diplopodia syndrome (disorder) Associated morphology Double structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Fibular dimelia diplopodia syndrome (disorder) Finding site Bone structure of fibula false Inferred relationship Existential restriction modifier (core metadata concept) 3
Fibular dimelia diplopodia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular dimelia diplopodia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular dimelia diplopodia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibular dimelia diplopodia syndrome (disorder) Finding site Bone structure of fibula true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular dimelia diplopodia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibular dimelia diplopodia syndrome (disorder) Associated morphology Double structure true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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