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720953006: syndrome de dimélie fibulaire-diplopodie (trouble)


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
756711000241113 syndrome de dimélie fibulaire-diplopodie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
925411000172113 syndrome de dimélie fibulaire-diplopodie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fibular dimelia diplopodia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Fibular dimelia diplopodia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Fibular dimelia diplopodia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) localisation d'une constatation (attribut) fibula (structure corporelle) true Inferred relationship Some 1
Fibular dimelia diplopodia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) morphologie associée (attribut) Double structure true Inferred relationship Some 1
Fibular dimelia diplopodia syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Fibular dimelia diplopodia syndrome (disorder) est un(e) (attribut) Duplication of fibula true Inferred relationship Some
Fibular dimelia diplopodia syndrome (disorder) est un(e) (attribut) Congenital anomaly of foot true Inferred relationship Some
Fibular dimelia diplopodia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Fibular dimelia diplopodia syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) morphologie associée (attribut) Double structure false Inferred relationship Some 3
Fibular dimelia diplopodia syndrome (disorder) localisation d'une constatation (attribut) fibula (structure corporelle) false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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