15669321000119104: Congenital absence of right lower limb (disorder)

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

\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Finding of limb structure (finding)\Finding of lower limb (finding)\Absence of lower limb (finding)\Congenital absence of right lower limb
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb

\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 right lower limb (disorder)\Congenital absence of right lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Disease\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of right lower limb	Finding site	Entire right lower limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of right lower limb	Associated morphology	Agenesis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of right lower limb	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of right lower limb	Is a	Congenital complete absence of lower limb (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of right lower limb	Is a	Congenital deformity of right lower limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of right lower limb	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of right lower limb	Is a	Absence of lower limb (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of right lower limb	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of right lower limb	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of right lower limb	Is a	Congenital anomaly of right lower limb (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tetra-amelia syndrome	Is a	False	Congenital absence of right lower limb	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	False	Congenital absence of right lower limb	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital complete absence of bilateral lower limbs	Is a	False	Congenital absence of right lower limb	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital complete absence of right lower limb	Is a	True	Congenital absence of right lower limb	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of right foot	Is a	True	Congenital absence of right lower limb	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of bilateral tibias	Is a	True	Congenital absence of right lower limb	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
3791967010	Congenital absence of right lower limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791968017	Congenital absence of right lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4944960019	Congenital absence of right lower extremity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791966018	Amelia of right lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791967010	Congenital absence of right lower limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791968017	Congenital absence of right lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4944960019	Congenital absence of right lower extremity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5898821000241117	absence congénitale du membre inférieur droit	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5898821000241117	absence congénitale du membre inférieur droit	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module