890222006: Congenital complete absence of bilateral lower limbs (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs

\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 right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\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 left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\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 complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\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 complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Fetal and/or neonatal disorder\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 (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Congenital anomaly of right lower limb (disorder)\Congenital absence of right lower limb (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Congenital complete absence of limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Developmental 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 (disorder)\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital absence of left lower limb (disorder)\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of left lower limb\Congenital complete absence of bilateral lower limbs
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital complete absence of lower limb\Congenital complete absence of right lower limb (disorder)\Congenital complete absence of bilateral lower limbs

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4009961011 Bilateral amelia of lower limbs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4012139010 Congenital complete absence of bilateral lower limbs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4012140012 Congenital complete absence of bilateral lower limbs (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5867311000241116 absence congénitale complète bilatérale des membres inférieurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5867321000241111 absence congénitale totale des deux membres inférieurs 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 complete absence of bilateral lower limbs	Is a	Congenital absence of left lower limb (disorder)	false	Inferred relationship	Some
Congenital complete absence of bilateral lower limbs	Is a	Congenital absence of right lower limb (disorder)	false	Inferred relationship	Some
Congenital complete absence of bilateral lower limbs	Is a	Bilateral congenital deformity of lower limbs	false	Inferred relationship	Some
Congenital complete absence of bilateral lower limbs	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital complete absence of bilateral lower limbs	Finding site	Entire right lower limb	true	Inferred relationship	Some	1
Congenital complete absence of bilateral lower limbs	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital complete absence of bilateral lower limbs	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital complete absence of bilateral lower limbs	Finding site	Entire left lower limb (body structure)	true	Inferred relationship	Some	2
Congenital complete absence of bilateral lower limbs	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Some	2
Congenital complete absence of bilateral lower limbs	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital complete absence of bilateral lower limbs	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Congenital complete absence of bilateral lower limbs	Is a	Congenital complete absence of right lower limb (disorder)	true	Inferred relationship	Some
Congenital complete absence of bilateral lower limbs	Is a	Congenital complete absence of left lower limb	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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	True	Congenital complete absence of bilateral lower limbs	Inferred relationship	Some
A genetic syndrome characterized by the absence of all four limbs.	Is a	True	Congenital complete absence of bilateral lower limbs	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set