79177001: Congenital absence of tibia (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 lower leg (disorder)\Congenital anomaly of tibia\Congenital absence of tibia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Finding of bone of lower limb (finding)\Absence of tibia\Congenital absence of tibia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital absence of tibia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Absence of lower limb (finding)\Absence of tibia\Congenital absence of tibia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital absence of tibia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia

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

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

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 tibia	Is a	Longitudinal deficiency of tibia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Is a	Congenital absence of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Is a	Phocomelia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of tibia	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital absence of tibia	Finding site	Musculoskeletal structure of lower limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Finding site	Bone structure of tibia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Finding site	Bone structure of tibia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital absence of tibia	Is a	Congenital anomaly of tibia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Is a	Congenital complete absence of lower limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Finding site	Bone structure of tibia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of tibia	Finding site	Bone structure of tibia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of tibia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of tibia	Is a	Partial congenital absence of limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Is a	Absence of tibia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Finding site	Entire tibia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Associated morphology	Agenesis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of tibia	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital tibial deficiency type I	Is a	True	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital tibial deficiency type II	Is a	False	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital tibial deficiency type III	Is a	True	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of tibia and fibula	Is a	True	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of tibia (disorder)	Is a	False	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of tibia (disorder)	Is a	False	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	Is a	False	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of bilateral tibias	Is a	True	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of tibia (disorder)	Is a	True	Congenital absence of tibia	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
131383018	Congenital absence of tibia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
131385013	Tibial hemimelia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820198018	Congenital absence of tibia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
131383018	Congenital absence of tibia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
131383018	Congenital absence of tibia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
131384012	Agenesis of tibia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
131384012	Agenesis of tibia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
131385013	Tibial hemimelia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
131385013	Tibial hemimelia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820198018	Congenital absence of tibia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
820198018	Congenital absence of tibia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4648771000241118	absence congénitale du tibia	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4648771000241118	absence congénitale du tibia	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module