15973301000119100: Congenital deformity of bilateral lower limbs (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital deformity of right lower limb\Bilateral congenital deformity of lower limbs
\Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of lower limb (disorder)\Congenital deformity of right lower limb\Bilateral congenital deformity of lower limbs

\Finding of limb structure (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital deformity of right lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Congenital anomaly of left lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\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 deformity of right lower limb\Bilateral congenital deformity of lower limbs
\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 deformity of right lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital deformity of right lower limb\Bilateral congenital deformity of lower limbs
\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 deformity of right lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital deformity of right lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Finding of lower limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Finding of lower limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital deformity of right lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Congenital anomaly of left lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\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 deformity of right lower limb\Bilateral congenital deformity of lower limbs
\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 deformity of right lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital deformity of left lower limb\Bilateral congenital deformity of lower limbs
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital deformity of right lower limb\Bilateral congenital deformity of lower limbs

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bilateral congenital deformity of lower limbs	Is a	Congenital deformity of right lower limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral congenital deformity of lower limbs	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral congenital deformity of lower limbs	Is a	Congenital deformity of left lower limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral congenital deformity of lower limbs	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral congenital deformity of lower limbs	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral congenital deformity of lower limbs	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral congenital deformity of lower limbs	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral congenital deformity of lower limbs	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral congenital deformity of lower limbs	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral congenital deformity of lower limbs	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral congenital deformity of lower limbs	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral congenital deformity of lower limbs	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral congenital deformity of lower limbs	Associated morphology	Deformity (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral congenital deformity of lower limbs	Associated morphology	Deformity (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral congenital dislocation of hip (disorder)	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetra-amelia syndrome	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral webbed toes of both feet	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital bilateral short Achilles tendons	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral congenital absence of feet (disorder)	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral unstable hip	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital bilateral internal tibial torsion	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Accessory bilateral tarsal navicular bones (disorder)	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital retroversion of bilateral femurs (finding)	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deformity of bilateral feet (disorder)	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral congenital anteversion of femurs	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral congenital deformity of hip joints	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral tarsal coalitions of feet	Is a	False	Bilateral congenital deformity of lower limbs	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	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Acheiropodia	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral congenital lower limb hypertrophy	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dislocation of bilateral knees (disorder)	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of all bilateral toes	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Syndactyly of toes of bilateral feet (disorder)	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital complete absence of bilateral lower limbs	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral postaxial polydactyly of toes	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Central polydactyly of bilateral toes (disorder)	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral preaxial polydactyly of toes	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of bilateral tibias	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral congenital tibiofibular synostosis	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral dysplastic hip (disorder)	Is a	False	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Longitudinal deficiency of bilateral fibulae	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral complete phocomelia of lower limb	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital bowing of bilateral femurs (disorder)	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deformity of bilateral knee joints	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital bilateral coxa valga	Is a	True	Bilateral congenital deformity of lower limbs	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital contracture of bilateral gastrocnemius (disorder)	Is a	True	Bilateral congenital deformity of lower limbs	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
3645202016	Congenital deformity of bilateral lower limbs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645203014	Congenital deformity of both lower limbs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645204015	Bilateral congenital deformity of lower limbs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645205019	Congenital deformity of bilateral lower limbs (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645202016	Congenital deformity of bilateral lower limbs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645203014	Congenital deformity of both lower limbs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645204015	Bilateral congenital deformity of lower limbs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3645205019	Congenital deformity of bilateral lower limbs (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5868491000241115	déformation congénitale bilatérale des membres inférieurs	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5868501000241110	déformation congénitale des deux membres inférieurs	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5868491000241115	déformation congénitale bilatérale des membres inférieurs	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5868501000241110	déformation congénitale des deux membres inférieurs	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module