74245009: Congenital absence of fibula (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Absence of fibula\Congenital absence of fibula
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital absence of fibula
\Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Absence of fibula\Congenital absence of fibula
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Absence of fibula\Congenital absence of fibula
\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital absence of fibula
\Musculoskeletal finding\Bone finding\Bone absent\Absence of fibula\Congenital absence of fibula
\Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone\Congenital absence of fibula
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

123286010 Congenital absence of fibula en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

814723015 Congenital absence of fibula (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4633051000241119 absence congénitale 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
Congenital absence of fibula	Is a	Congenital absence of skeletal bone	true	Inferred relationship	Some
Congenital absence of fibula	Is a	Longitudinal deficiency of fibula	false	Inferred relationship	Some
Congenital absence of fibula	Is a	Phocomelia	false	Inferred relationship	Some
Congenital absence of fibula	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital absence of fibula	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Congenital absence of fibula	Finding site	Bone structure of fibula	false	Inferred relationship	Some	1
Congenital absence of fibula	Finding site	Bone structure of fibula	false	Inferred relationship	Some	8
Congenital absence of fibula	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital absence of fibula	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of fibula	Associated morphology	Congenital absence	false	Inferred relationship	Some	8
Congenital absence of fibula	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of fibula	Finding site	Musculoskeletal structure of lower limb	false	Inferred relationship	Some	1
Congenital absence of fibula	Is a	Congenital anomaly of fibula	true	Inferred relationship	Some
Congenital absence of fibula	Is a	Congenital complete absence of lower limb	false	Inferred relationship	Some
Congenital absence of fibula	Finding site	Bone structure of fibula	true	Inferred relationship	Some	1
Congenital absence of fibula	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of fibula	Is a	Absence of fibula	true	Inferred relationship	Some
Congenital absence of fibula	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital absence of fibula	Finding site	Bone structure of fibula	false	Inferred relationship	Some	2
Congenital absence of fibula	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of fibula	Is a	Partial congenital absence of limb	true	Inferred relationship	Some
Congenital absence of fibula	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of fibula	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of fibula	Associated morphology	Agenesis (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital absence of fibula	Finding site	Entire fibula	false	Inferred relationship	Some	1
Congenital absence of fibula	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital fibular deficiency type I	Is a	False	Congenital absence of fibula	Inferred relationship	Some
Congenital fibular deficiency type II	Is a	False	Congenital absence of fibula	Inferred relationship	Some
Congenital fibular deficiency type III	Is a	False	Congenital absence of fibula	Inferred relationship	Some
Congenital absence of tibia and fibula	Is a	True	Congenital absence of fibula	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	Is a	False	Congenital absence of fibula	Inferred relationship	Some
Agenesis of fibula	Is a	False	Congenital 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	Congenital 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	Congenital absence of fibula	Inferred relationship	Some
Gruca tibial bifurcation procedure	Has focus	True	Congenital absence of fibula	Inferred relationship	Some	2
Aplasia of fibula	Is a	True	Congenital absence of fibula	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
123286010	Congenital absence of fibula	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
814723015	Congenital absence of fibula (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4633051000241119	absence congénitale du péroné	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module