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716006003: Bifid femur co-occurrent with monodactylous ectrodactyly (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
3304392013 Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304393015 Bifid femur co-occurrent with monodactylous ectrodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304394014 Gollop Wolfgang complex en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304396011 Bifid femur with monodactylous ectrodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401200010 A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401201014 A rare congenital limb malformation characterised by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304392013 Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304392013 Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304393015 Bifid femur co-occurrent with monodactylous ectrodactyly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304393015 Bifid femur co-occurrent with monodactylous ectrodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304394014 Gollop Wolfgang complex en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304396011 Bifid femur with monodactylous ectrodactyly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304396011 Bifid femur with monodactylous ectrodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304395010 A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401200010 A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401201014 A rare congenital limb malformation characterised by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3383871001000110 Gollop-Wolfgang-Komplex de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5476781000241114 fémur bifide concomitant d'une ectrodactylie monodactyle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5476781000241114 fémur bifide concomitant d'une ectrodactylie monodactyle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383871001000110 Gollop-Wolfgang-Komplex 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
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a Ectrodactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a Congenital anomaly of femur (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Associated morphology Congenital notch (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Finding site Bone structure of femur false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Associated morphology Congenital notch (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Finding site Structure of femur false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a Congenital abnormal shape of femur (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Finding site Bone structure of femur 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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