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720953006: syndroom van duplicatuur van fibula, agenesie van tibia en spiegelvoet (aandoening)


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
6748791000146115 syndroom van fibulaire dimelie en diplopodie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748811000146119 syndroom van beenduplicatie en spiegelvoet nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8339141000146112 syndroom van duplicatuur van fibula, agenesie van tibia en spiegelvoet (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8339151000146110 syndroom van duplicatuur van fibula, agenesie van tibia en spiegelvoet nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Fibular dimelia diplopodia syndrome (disorder) Is a Duplication of fibula true Inferred relationship Some
Fibular dimelia diplopodia syndrome (disorder) Is a Congenital abnormality of foot and toes (disorder) true Inferred relationship Some
Fibular dimelia diplopodia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Fibular dimelia diplopodia syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) Finding site Foot structure true Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) Associated morphology Double structure false Inferred relationship Some 3
Fibular dimelia diplopodia syndrome (disorder) Finding site Bone structure of fibula false Inferred relationship Some 3
Fibular dimelia diplopodia syndrome (disorder) Occurrence Congenital 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Fibular dimelia diplopodia syndrome (disorder) Finding site Bone structure of fibula 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) Associated morphology Double structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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