47276000: Congenital absence of femur (disorder)

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

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

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

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of femur	Is a	Congenital anomaly of femur (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Is a	Phocomelia of lower limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Is a	Congenital absence of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Is a	Congenital complete absence of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of femur	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of femur	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of femur	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Finding site	Musculoskeletal structure of lower limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Finding site	Bone structure of femur	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Is a	Congenital complete absence of lower limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Finding site	Bone structure of femur	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Is a	Bone absent (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of femur	Finding site	Bone structure of femur	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of femur	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of femur	Is a	Incomplete congenital absence of thigh AND leg	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Is a	Partial congenital absence of limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Is a	Absence of lower limb (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of femur	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Finding site	Entire femur	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Associated morphology	Agenesis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of femur	Finding site	Structure of femur	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Transverse deficiency lower limb - through femur	Is a	False	Congenital absence of femur	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of femur (disorder)	Is a	False	Congenital absence of femur	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete phocomelia of lower limb (disorder)	Is a	False	Congenital absence of femur	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of femur	Is a	True	Congenital absence of femur	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
78811017	Congenital absence of femur	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78812012	Proximal phocomelia of lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
784716014	Congenital absence of femur (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1230437012	Congenital absence of thigh only	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78811017	Congenital absence of femur	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
78811017	Congenital absence of femur	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78812012	Proximal phocomelia of lower limb	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
78812012	Proximal phocomelia of lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78813019	Agenesis of femur	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
78813019	Agenesis of femur	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
784716014	Congenital absence of femur (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
784716014	Congenital absence of femur (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1230437012	Congenital absence of thigh only	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1230437012	Congenital absence of thigh only	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4544411000241117	absence fémorale congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4544411000241117	absence fémorale congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module