783156008: Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome

\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Associated morphology	Abnormal shortening	true	Inferred relationship	Some	1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Finding site	Entire limb	true	Inferred relationship	Some	1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Is a	Congenital deformity	false	Inferred relationship	Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3757863014	Hecht Scott syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757865019	FATCO syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757868017	Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757869013	Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757871013	A rare genetic congenital limb malformation syndrome with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12124401000172113	syndrome d'aplasie fibulaire, campomélie tibiale et oligosyndactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12124411000172111	syndrome FATCO (fibular aplasia, tibial campomelia, oligosyndactyly)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12124421000172118	syndrome de Hecht-Scott	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4914371000172113	FACTO-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4914381000172111	syndroom van aplasie van fibula, tibiale campomelie en oligosyndactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4914391000172114	aplasie van fibula, tibiale campomelie, oligosyndactylie syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)