275347009: Absence of fibula (finding)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Finding of lower limb\...

\Finding of bone of lower limb (finding)\Absence of fibula

\Absence of lower limb (finding)\Absence of fibula

\Musculoskeletal finding\Bone finding\...

\Finding of bone of lower limb (finding)\Absence of fibula

\Bone absent\Absence of fibula

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

411314013 Absence of fibula en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

668206019 Absence of fibula (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5120381000241111 absence du péroné fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Absence of fibula	Is a	Bone absent	true	Inferred relationship	Some
Absence of fibula	Finding site	Bone structure of fibula	true	Inferred relationship	Some	1
Absence of fibula	Is a	Finding of lower limb	false	Inferred relationship	Some
Absence of fibula	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	1
Absence of fibula	Finding site	Bone structure of fibula	false	Inferred relationship	Some	1
Absence of fibula	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Absence of fibula	Is a	Absence of lower limb (finding)	true	Inferred relationship	Some
Absence of fibula	Is a	Finding of bone of lower limb (finding)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of fibula	Is a	True	Absence of fibula	Inferred relationship	Some
Congenital absence of tibia and fibula	Is a	False	Absence of fibula	Inferred relationship	Some
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.	Is a	False	Absence of fibula	Inferred relationship	Some
A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).	Is a	False	Absence of fibula	Inferred relationship	Some

This concept is not in any reference sets