123561001: Congenital anomaly of femur (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 thigh (disorder)\Congenital anomaly of femur
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of femur
\Finding of limb structure\Finding of lower limb\Finding of thigh (finding)\Disorder of thigh (disorder)\Congenital anomaly of femur
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of thigh (disorder)\Congenital anomaly of femur
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of femur
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of femur
\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 femur
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur

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

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

192050015 Congenital anomaly of femur en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

726520015 Congenital anomaly of femur (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4766901000241111 anomalie congénitale du fémur 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 femur	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital anomaly of femur	Is a	Congenital anomaly of lower limb	true	Inferred relationship	Some
Congenital anomaly of femur	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of femur	Finding site	Bone structure of femur	false	Inferred relationship	Some	1
Congenital anomaly of femur	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Congenital anomaly of femur	Is a	Disorder of thigh (disorder)	true	Inferred relationship	Some
Congenital anomaly of femur	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of femur	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	1
Congenital anomaly of femur	Is a	Congenital abnormality of lower limb and pelvic girdle (disorder)	false	Inferred relationship	Some
Congenital anomaly of femur	Finding site	Bone structure of femur	true	Inferred relationship	Some	1
Congenital anomaly of femur	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of femur	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of femur	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of femur	Finding site	Bone structure of femur	false	Inferred relationship	Some	2
Congenital anomaly of femur	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of femur	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of femur	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of femur	Finding site	Structure of femur	false	Inferred relationship	Some	1
Congenital anomaly of femur	Is a	Finding of bone of lower limb (finding)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Transverse deficiency lower limb - through femur	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Duplication of femur	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Congenital anteversion of femur	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Congenital coxa valga	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Congenital absence of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Longitudinal deficiency of femur	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Congenital coxa vara	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Congenital abnormal fusion of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Congenital abnormal shape of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Congenital malposition of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Congenital thickening of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Incomplete ossification of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Lack of ossification of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Congenital hypoplasia of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Congenital bowing of femur	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Duplication of femur	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Longitudinal deficiency of femur	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Bilateral congenital retroversion of femurs	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Monostotic fibrous dysplasia of left femur (disorder)	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
Monostotic fibrous dysplasia of right femur	Is a	False	Congenital anomaly of femur	Inferred relationship	Some
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Melorheostosis of femur (disorder)	Is a	True	Congenital anomaly of femur	Inferred relationship	Some
Congenital dysplasia of head of femur (disorder)	Is a	True	Congenital anomaly of femur	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
192050015	Congenital anomaly of femur	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
726520015	Congenital anomaly of femur (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4766901000241111	anomalie congénitale du fémur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module