123562008: Congenital anomaly 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
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly 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
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of fibula
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly 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
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly 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
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly 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
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly 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
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly 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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly 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

192051016 Congenital anomaly of fibula en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

726521016 Congenital anomaly of fibula (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4766921000241118 anomalie 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 anomaly of fibula	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital anomaly of fibula	Is a	Congenital anomaly of lower limb	true	Inferred relationship	Some
Congenital anomaly of fibula	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Congenital anomaly of fibula	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of fibula	Finding site	Bone structure of fibula	true	Inferred relationship	Some	1
Congenital anomaly of fibula	Is a	Disorder of lower leg (disorder)	true	Inferred relationship	Some
Congenital anomaly of fibula	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	1
Congenital anomaly of fibula	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of fibula	Is a	Congenital abnormality of lower limb and pelvic girdle (disorder)	false	Inferred relationship	Some
Congenital anomaly of fibula	Finding site	Bone structure of fibula	false	Inferred relationship	Some	1
Congenital anomaly of fibula	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of fibula	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of fibula	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of fibula	Finding site	Bone structure of fibula	false	Inferred relationship	Some	2
Congenital anomaly of fibula	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of fibula	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of fibula	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of fibula	Is a	Finding of bone of lower limb (finding)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Longitudinal deficiency of tibia AND/OR fibula	Is a	False	Congenital anomaly of fibula	Inferred relationship	Some
Duplication of fibula	Is a	False	Congenital anomaly of fibula	Inferred relationship	Some
Longitudinal deficiency of fibula	Is a	False	Congenital anomaly of fibula	Inferred relationship	Some
Congenital abnormal fusion of fibula	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Congenital abnormal shape of fibula	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Lack of ossification of fibula	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Congenital malposition of fibula	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Congenital thickening of fibula	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Incomplete ossification of fibula	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Congenital absence of fibula	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Congenital hypoplasia of fibula	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some
Duplication of fibula	Is a	True	Congenital anomaly 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 anomaly of fibula	Inferred relationship	Some
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.	Is a	True	Congenital anomaly 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 anomaly of fibula	Inferred relationship	Some
Congenital absence of tibia and fibula	Is a	False	Congenital anomaly of fibula	Inferred relationship	Some
Mesomelic dysplasia of lower limb	Is a	True	Congenital anomaly of fibula	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
192051016	Congenital anomaly of fibula	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
726521016	Congenital anomaly of fibula (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4766921000241118	anomalie congénitale du péroné	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module